ClinVar

NM_020843.4(SCAPER):c.3113G>A (p.Gly1038Glu)

Genes:

LOC126862183:BRD4-independent group 4 enhancer GRCh37_chr15:76726060-76727259 [Gene]
SCAPER:S-phase cyclin A associated protein in the ER [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q24.3

Genomic location:

• Chr15: 76434276 (on Assembly GRCh38)
• Chr15: 76726617 (on Assembly GRCh37)

Preferred name:

NM_020843.4(SCAPER):c.3113G>A (p.Gly1038Glu)

HGVS:

• NC_000015.10:g.76434276C>T
• NG_086681.1:g.658C>T
• NM_001145923.2:c.2375G>A
• NM_001353009.2:c.3131G>A
• NM_001353010.2:c.2711G>A
• NM_001353011.2:c.2729G>A
• NM_001353012.2:c.2711G>A
• NM_020843.4:c.3113G>AMANE SELECT
• NP_001139395.1:p.Gly792Glu
• NP_001339938.1:p.Gly1044Glu
• NP_001339939.1:p.Gly904Glu
• NP_001339940.1:p.Gly910Glu
• NP_001339941.1:p.Gly904Glu
• NP_065894.2:p.Gly1038Glu
• NC_000015.9:g.76726617C>T
• NM_020843.2:c.3113G>A
• NR_148227.2:n.3321G>A

This HGVS expression did not pass validation

Protein change:

G1038E

Molecular consequence:

• NM_001145923.2:c.2375G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353009.2:c.3131G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353010.2:c.2711G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353011.2:c.2729G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353012.2:c.2711G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_020843.4:c.3113G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_148227.2:n.3321G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]