Canonical Allele Identifier: CA400568924

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574606T>C (hg19) ; chr17:g.63497245T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497245T>C , CM000679.2:g.63497245T>C	GRCh38
NC_000017.10:g.61574606T>C , CM000679.1:g.61574606T>C	GRCh37
NC_000017.9:g.58928338T>C	NCBI36
NG_011648.1:g.25173T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3800T>C MANE Select	ENSP00000290866.4:p.Ile1267Thr
ENST00000290863.10:c.2078T>C	ENSP00000290863.6:p.Ile693Thr
ENST00000290866.9:c.3800T>C	ENSP00000290866.4:p.Ile1267Thr
ENST00000413513.7:c.1955T>C	ENSP00000392247.3:p.Ile652Thr
ENST00000428043.5:c.*222T>C	ENSP00000397593.2:n.*222T>C
ENST00000577647.2:c.1969+260T>C	ENSP00000464149.1:n.1969+260T>C
ENST00000578839.5:c.*1555T>C	ENSP00000462110.2:n.*1555T>C
ENST00000579314.5:c.*1529T>C	ENSP00000462599.1:n.*1529T>C
NM_000789.3:c.3800T>C	NP_000780.1:p.Ile1267Thr
NM_001178057.1:c.1955T>C	NP_001171528.1:p.Ile652Thr
NM_152830.2:c.2078T>C	NP_690043.1:p.Ile693Thr
XM_005257110.1:c.3251T>C	XP_005257167.1:p.Ile1084Thr
XM_006721737.2:c.2138T>C	XP_006721800.2:p.Ile713Thr
XM_006721737.3:c.2138T>C	XP_006721800.2:p.Ile713Thr
NM_000789.4:c.3800T>C MANE Select	NP_000780.1:p.Ile1267Thr
NM_001178057.2:c.1955T>C	NP_001171528.1:p.Ile652Thr
NM_152830.3:c.2078T>C	NP_690043.1:p.Ile693Thr
NM_001382700.1:c.3233T>C	NP_001369629.1:p.Ile1078Thr
NM_001382701.1:c.2948T>C	NP_001369630.1:p.Ile983Thr
NM_001382702.1:c.1415T>C	NP_001369631.1:p.Ile472Thr
NR_168483.1:n.2178T>C