Canonical Allele Identifier: CA8700655

Gene: ACE

Linked Data

• dbSNP Id: rs762056936
• ExAC: 17:61574561 C / T
• gnomAD v2: 17-61574561-C-T
• gnomAD v3: 17-63497200-C-T
• gnomAD v4: 17-63497200-C-T
• COSMIC: COSM1181584 ; COSM1181585
• MyVariant Identifiers: chr17:g.61574561C>T (hg19) ; chr17:g.63497200C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497200C>T , CM000679.2:g.63497200C>T	GRCh38
NC_000017.10:g.61574561C>T , CM000679.1:g.61574561C>T	GRCh37
NC_000017.9:g.58928293C>T	NCBI36
NG_011648.1:g.25128C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3755C>T MANE Select	ENSP00000290866.4:p.Ala1252Val
ENST00000290863.10:c.2033C>T	ENSP00000290863.6:p.Ala678Val
ENST00000290866.9:c.3755C>T	ENSP00000290866.4:p.Ala1252Val
ENST00000413513.7:c.1910C>T	ENSP00000392247.3:p.Ala637Val
ENST00000428043.5:c.*177C>T	ENSP00000397593.2:n.*177C>T
ENST00000577647.2:c.1969+215C>T	ENSP00000464149.1:n.1969+215C>T
ENST00000578839.5:c.*1510C>T	ENSP00000462110.2:n.*1510C>T
ENST00000579314.5:c.*1484C>T	ENSP00000462599.1:n.*1484C>T
NM_000789.3:c.3755C>T	NP_000780.1:p.Ala1252Val
NM_001178057.1:c.1910C>T	NP_001171528.1:p.Ala637Val
NM_152830.2:c.2033C>T	NP_690043.1:p.Ala678Val
XM_005257110.1:c.3206C>T	XP_005257167.1:p.Ala1069Val
XM_006721737.2:c.2093C>T	XP_006721800.2:p.Ala698Val
XM_006721737.3:c.2093C>T	XP_006721800.2:p.Ala698Val
NM_000789.4:c.3755C>T MANE Select	NP_000780.1:p.Ala1252Val
NM_001178057.2:c.1910C>T	NP_001171528.1:p.Ala637Val
NM_152830.3:c.2033C>T	NP_690043.1:p.Ala678Val
NM_001382700.1:c.3188C>T	NP_001369629.1:p.Ala1063Val
NM_001382701.1:c.2903C>T	NP_001369630.1:p.Ala968Val
NM_001382702.1:c.1370C>T	NP_001369631.1:p.Ala457Val
NR_168483.1:n.2133C>T