Canonical Allele Identifier: CA400556148

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61564020A>C (hg19) ; chr17:g.63486659A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486659A>C , CM000679.2:g.63486659A>C	GRCh38
NC_000017.10:g.61564020A>C , CM000679.1:g.61564020A>C	GRCh37
NC_000017.9:g.58917752A>C	NCBI36
NG_011648.1:g.14587A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2161A>C MANE Select	ENSP00000290866.4:p.Ile721Leu
ENST00000290863.10:c.439A>C	ENSP00000290863.6:p.Ile147Leu
ENST00000290866.9:c.2161A>C	ENSP00000290866.4:p.Ile721Leu
ENST00000413513.7:c.439A>C	ENSP00000392247.3:p.Ile147Leu
ENST00000428043.5:c.2161A>C	ENSP00000397593.2:p.Ile721Leu
ENST00000577647.2:c.439A>C	ENSP00000464149.1:p.Ile147Leu
ENST00000578839.5:c.*231A>C	ENSP00000462110.2:n.*231A>C
ENST00000579204.1:c.342A>C	ENSP00000464629.1:n.342A>C
ENST00000579314.5:c.439A>C	ENSP00000462599.1:p.Ile147Leu
ENST00000579726.5:c.723A>C
ENST00000582005.5:c.*81A>C	ENSP00000462002.1:n.*81A>C
NM_000789.3:c.2161A>C	NP_000780.1:p.Ile721Leu
NM_001178057.1:c.439A>C	NP_001171528.1:p.Ile147Leu
NM_152830.2:c.439A>C	NP_690043.1:p.Ile147Leu
XM_005257110.1:c.1612A>C	XP_005257167.1:p.Ile538Leu
XM_006721737.2:c.499A>C	XP_006721800.2:p.Ile167Leu
XM_006721737.3:c.499A>C	XP_006721800.2:p.Ile167Leu
NM_000789.4:c.2161A>C MANE Select	NP_000780.1:p.Ile721Leu
NM_001178057.2:c.439A>C	NP_001171528.1:p.Ile147Leu
NM_152830.3:c.439A>C	NP_690043.1:p.Ile147Leu
NM_001382700.1:c.1594A>C	NP_001369629.1:p.Ile532Leu
NM_001382701.1:c.1309A>C	NP_001369630.1:p.Ile437Leu
NM_001382702.1:c.91A>C	NP_001369631.1:p.Ile31Leu
NR_168483.1:n.461A>C