Canonical Allele Identifier: CA400556248

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61564038C>A (hg19) ; chr17:g.63486677C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486677C>A , CM000679.2:g.63486677C>A	GRCh38
NC_000017.10:g.61564038C>A , CM000679.1:g.61564038C>A	GRCh37
NC_000017.9:g.58917770C>A	NCBI36
NG_011648.1:g.14605C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2179C>A MANE Select	ENSP00000290866.4:p.Leu727Ile
ENST00000290863.10:c.457C>A	ENSP00000290863.6:p.Leu153Ile
ENST00000290866.9:c.2179C>A	ENSP00000290866.4:p.Leu727Ile
ENST00000413513.7:c.457C>A	ENSP00000392247.3:p.Leu153Ile
ENST00000428043.5:c.2179C>A	ENSP00000397593.2:p.Leu727Ile
ENST00000577647.2:c.457C>A	ENSP00000464149.1:p.Leu153Ile
ENST00000578839.5:c.*249C>A	ENSP00000462110.2:n.*249C>A
ENST00000579204.1:c.360C>A	ENSP00000464629.1:n.360C>A
ENST00000579314.5:c.457C>A	ENSP00000462599.1:p.Leu153Ile
ENST00000579726.5:c.741C>A
ENST00000582005.5:c.*99C>A	ENSP00000462002.1:n.*99C>A
NM_000789.3:c.2179C>A	NP_000780.1:p.Leu727Ile
NM_001178057.1:c.457C>A	NP_001171528.1:p.Leu153Ile
NM_152830.2:c.457C>A	NP_690043.1:p.Leu153Ile
XM_005257110.1:c.1630C>A	XP_005257167.1:p.Leu544Ile
XM_006721737.2:c.517C>A	XP_006721800.2:p.Leu173Ile
XM_006721737.3:c.517C>A	XP_006721800.2:p.Leu173Ile
NM_000789.4:c.2179C>A MANE Select	NP_000780.1:p.Leu727Ile
NM_001178057.2:c.457C>A	NP_001171528.1:p.Leu153Ile
NM_152830.3:c.457C>A	NP_690043.1:p.Leu153Ile
NM_001382700.1:c.1612C>A	NP_001369629.1:p.Leu538Ile
NM_001382701.1:c.1327C>A	NP_001369630.1:p.Leu443Ile
NM_001382702.1:c.109C>A	NP_001369631.1:p.Leu37Ile
NR_168483.1:n.479C>A