ClinVar

NM_005357.4(LIPE):c.3221G>C (p.Gly1074Ala)

Genes:

LIPE-AS1:LIPE antisense RNA 1 [Gene - HGNC]
LIPE:lipase E, hormone sensitive type [Gene - OMIM - HGNC]
LOC101930071:uncharacterized LOC101930071 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

• Chr19: 42401822 (on Assembly GRCh38)
• Chr19: 42905974 (on Assembly GRCh37)

Preferred name:

NM_005357.4(LIPE):c.3221G>C (p.Gly1074Ala)

HGVS:

• NC_000019.10:g.42401822C>G
• NG_034246.1:g.30605G>C
• NG_199000.1:g.274C>G
• NM_001416100.1:c.2471G>C
• NM_001416101.1:c.2456G>C
• NM_001416102.1:c.2351G>C
• NM_001416103.1:c.2318G>C
• NM_001416104.1:c.2318G>C
• NM_001416105.1:c.2228G>C
• NM_001416106.1:c.2123G>C
• NM_001416107.1:c.1634G>C
• NM_001416108.1:c.1580G>C
• NM_005357.3:c.3221G>C
• NM_005357.4:c.3221G>CMANE SELECT
• NP_001403029.1:p.Gly824Ala
• NP_001403030.1:p.Gly819Ala
• NP_001403031.1:p.Gly784Ala
• NP_001403032.1:p.Gly773Ala
• NP_001403033.1:p.Gly773Ala
• NP_001403034.1:p.Gly743Ala
• NP_001403035.1:p.Gly708Ala
• NP_001403036.1:p.Gly545Ala
• NP_001403037.1:p.Gly527Ala
• NP_005348.2:p.Gly1074Ala
• NC_000019.9:g.42905974C>G

This HGVS expression did not pass validation

Protein change:

G1074A

Molecular consequence:

• NM_001416100.1:c.2471G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001416101.1:c.2456G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001416102.1:c.2351G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001416103.1:c.2318G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001416104.1:c.2318G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001416105.1:c.2228G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001416106.1:c.2123G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001416107.1:c.1634G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001416108.1:c.1580G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_005357.4:c.3221G>C - missense variant - [Sequence Ontology: SO:0001583]