ClinVar

NM_000789.4(ACE):c.3708C>T (p.Pro1236=)

Gene:

ACE:angiotensin I converting enzyme [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q23.3

Genomic location:

• Chr17: 63497153 (on Assembly GRCh38)
• Chr17: 61574514 (on Assembly GRCh37)

Preferred name:

NM_000789.4(ACE):c.3708C>T (p.Pro1236=)

HGVS:

• NC_000017.11:g.63497153C>T
• NG_011648.1:g.25081C>T
• NM_000789.4:c.3708C>TMANE SELECT
• NM_001178057.2:c.1863C>T
• NM_001382700.1:c.3141C>T
• NM_001382701.1:c.2856C>T
• NM_001382702.1:c.1323C>T
• NM_152830.3:c.1986C>T
• NP_000780.1:p.Pro1236=
• NP_001171528.1:p.Pro621=
• NP_001369629.1:p.Pro1047=
• NP_001369630.1:p.Pro952=
• NP_001369631.1:p.Pro441=
• NP_690043.1:p.Pro662=
• NC_000017.10:g.61574514C>T
• NR_168483.1:n.2086C>T

This HGVS expression did not pass validation

Molecular consequence:

• NR_168483.1:n.2086C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000789.4:c.3708C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001178057.2:c.1863C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382700.1:c.3141C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382701.1:c.2856C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382702.1:c.1323C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_152830.3:c.1986C>T - synonymous variant - [Sequence Ontology: SO:0001819]