Canonical Allele Identifier: CA400556155

Gene: ACE

Linked Data

• dbSNP Id: rs1424703433
• gnomAD v2: 17-61564022-A-G
• gnomAD v3: 17-63486661-A-G
• gnomAD v4: 17-63486661-A-G
• COSMIC: COSM3520662 ; COSM3520663 ; COSM3520664
• MyVariant Identifiers: chr17:g.61564022A>G (hg19) ; chr17:g.63486661A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486661A>G , CM000679.2:g.63486661A>G	GRCh38
NC_000017.10:g.61564022A>G , CM000679.1:g.61564022A>G	GRCh37
NC_000017.9:g.58917754A>G	NCBI36
NG_011648.1:g.14589A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2163A>G MANE Select	ENSP00000290866.4:p.Ile721Met
ENST00000290863.10:c.441A>G	ENSP00000290863.6:p.Ile147Met
ENST00000290866.9:c.2163A>G	ENSP00000290866.4:p.Ile721Met
ENST00000413513.7:c.441A>G	ENSP00000392247.3:p.Ile147Met
ENST00000428043.5:c.2163A>G	ENSP00000397593.2:p.Ile721Met
ENST00000577647.2:c.441A>G	ENSP00000464149.1:p.Ile147Met
ENST00000578839.5:c.*233A>G	ENSP00000462110.2:n.*233A>G
ENST00000579204.1:c.344A>G	ENSP00000464629.1:n.344A>G
ENST00000579314.5:c.441A>G	ENSP00000462599.1:p.Ile147Met
ENST00000579726.5:c.725A>G
ENST00000582005.5:c.*83A>G	ENSP00000462002.1:n.*83A>G
NM_000789.3:c.2163A>G	NP_000780.1:p.Ile721Met
NM_001178057.1:c.441A>G	NP_001171528.1:p.Ile147Met
NM_152830.2:c.441A>G	NP_690043.1:p.Ile147Met
XM_005257110.1:c.1614A>G	XP_005257167.1:p.Ile538Met
XM_006721737.2:c.501A>G	XP_006721800.2:p.Ile167Met
XM_006721737.3:c.501A>G	XP_006721800.2:p.Ile167Met
NM_000789.4:c.2163A>G MANE Select	NP_000780.1:p.Ile721Met
NM_001178057.2:c.441A>G	NP_001171528.1:p.Ile147Met
NM_152830.3:c.441A>G	NP_690043.1:p.Ile147Met
NM_001382700.1:c.1596A>G	NP_001369629.1:p.Ile532Met
NM_001382701.1:c.1311A>G	NP_001369630.1:p.Ile437Met
NM_001382702.1:c.93A>G	NP_001369631.1:p.Ile31Met
NR_168483.1:n.463A>G