Canonical Allele Identifier: CA400569650

Gene: ACE

Linked Data

• dbSNP Id: rs1162756119
• gnomAD v2: 17-61574692-C-T
• MyVariant Identifiers: chr17:g.61574692C>T (hg19) ; chr17:g.63497331C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497331C>T , CM000679.2:g.63497331C>T	GRCh38
NC_000017.10:g.61574692C>T , CM000679.1:g.61574692C>T	GRCh37
NC_000017.9:g.58928424C>T	NCBI36
NG_011648.1:g.25259C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3886C>T MANE Select	ENSP00000290866.4:p.Gln1296Ter
ENST00000290863.10:c.2164C>T	ENSP00000290863.6:p.Gln722Ter
ENST00000290866.9:c.3886C>T	ENSP00000290866.4:p.Gln1296Ter
ENST00000413513.7:c.2041C>T	ENSP00000392247.3:p.Gln681Ter
ENST00000428043.5:c.*308C>T	ENSP00000397593.2:n.*308C>T
ENST00000577647.2:c.1969+346C>T	ENSP00000464149.1:n.1969+346C>T
ENST00000578839.5:c.*1641C>T	ENSP00000462110.2:n.*1641C>T
ENST00000579314.5:c.*1615C>T	ENSP00000462599.1:n.*1615C>T
NM_000789.3:c.3886C>T	NP_000780.1:p.Gln1296Ter
NM_001178057.1:c.2041C>T	NP_001171528.1:p.Gln681Ter
NM_152830.2:c.2164C>T	NP_690043.1:p.Gln722Ter
XM_005257110.1:c.3337C>T	XP_005257167.1:p.Gln1113Ter
XM_006721737.2:c.2224C>T	XP_006721800.2:p.Gln742Ter
XM_006721737.3:c.2224C>T	XP_006721800.2:p.Gln742Ter
NM_000789.4:c.3886C>T MANE Select	NP_000780.1:p.Gln1296Ter
NM_001178057.2:c.2041C>T	NP_001171528.1:p.Gln681Ter
NM_152830.3:c.2164C>T	NP_690043.1:p.Gln722Ter
NM_001382700.1:c.3319C>T	NP_001369629.1:p.Gln1107Ter
NM_001382701.1:c.3034C>T	NP_001369630.1:p.Gln1012Ter
NM_001382702.1:c.1501C>T	NP_001369631.1:p.Gln501Ter
NR_168483.1:n.2264C>T