Canonical Allele Identifier: CA400566877

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574211A>G (hg19) ; chr17:g.63496850A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496850A>G , CM000679.2:g.63496850A>G	GRCh38
NC_000017.10:g.61574211A>G , CM000679.1:g.61574211A>G	GRCh37
NC_000017.9:g.58927943A>G	NCBI36
NG_011648.1:g.24778A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3556A>G MANE Select	ENSP00000290866.4:p.Ile1186Val
ENST00000290863.10:c.1834A>G	ENSP00000290863.6:p.Ile612Val
ENST00000290866.9:c.3556A>G	ENSP00000290866.4:p.Ile1186Val
ENST00000413513.7:c.1711A>G	ENSP00000392247.3:p.Ile571Val
ENST00000428043.5:c.3556A>G	ENSP00000397593.2:p.Ile1186Val
ENST00000577418.5:n.566A>G
ENST00000577647.2:c.1834A>G	ENSP00000464149.1:p.Ile612Val
ENST00000578839.5:c.*1311A>G	ENSP00000462110.2:n.*1311A>G
ENST00000579314.5:c.*1285A>G	ENSP00000462599.1:n.*1285A>G
ENST00000579409.1:c.243A>G
ENST00000582244.1:n.430A>G
NM_000789.3:c.3556A>G	NP_000780.1:p.Ile1186Val
NM_001178057.1:c.1711A>G	NP_001171528.1:p.Ile571Val
NM_152830.2:c.1834A>G	NP_690043.1:p.Ile612Val
XM_005257110.1:c.3007A>G	XP_005257167.1:p.Ile1003Val
XM_006721737.2:c.1894A>G	XP_006721800.2:p.Ile632Val
XM_006721737.3:c.1894A>G	XP_006721800.2:p.Ile632Val
NM_000789.4:c.3556A>G MANE Select	NP_000780.1:p.Ile1186Val
NM_001178057.2:c.1711A>G	NP_001171528.1:p.Ile571Val
NM_152830.3:c.1834A>G	NP_690043.1:p.Ile612Val
NM_001382700.1:c.2989A>G	NP_001369629.1:p.Ile997Val
NM_001382701.1:c.2704A>G	NP_001369630.1:p.Ile902Val
NM_001382702.1:c.1171A>G	NP_001369631.1:p.Ile391Val
NR_168483.1:n.1934A>G