Canonical Allele Identifier: CA400567565

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574295C>A (hg19) ; chr17:g.63496934C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496934C>A , CM000679.2:g.63496934C>A	GRCh38
NC_000017.10:g.61574295C>A , CM000679.1:g.61574295C>A	GRCh37
NC_000017.9:g.58928027C>A	NCBI36
NG_011648.1:g.24862C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3640C>A MANE Select	ENSP00000290866.4:p.Leu1214Met
ENST00000290863.10:c.1918C>A	ENSP00000290863.6:p.Leu640Met
ENST00000290866.9:c.3640C>A	ENSP00000290866.4:p.Leu1214Met
ENST00000413513.7:c.1795C>A	ENSP00000392247.3:p.Leu599Met
ENST00000428043.5:c.3640C>A	ENSP00000397593.2:p.Leu1214Met
ENST00000577418.5:n.650C>A
ENST00000577647.2:c.1918C>A	ENSP00000464149.1:p.Leu640Met
ENST00000578839.5:c.*1395C>A	ENSP00000462110.2:n.*1395C>A
ENST00000579314.5:c.*1369C>A	ENSP00000462599.1:n.*1369C>A
ENST00000579409.1:c.327C>A
ENST00000582244.1:n.514C>A
NM_000789.3:c.3640C>A	NP_000780.1:p.Leu1214Met
NM_001178057.1:c.1795C>A	NP_001171528.1:p.Leu599Met
NM_152830.2:c.1918C>A	NP_690043.1:p.Leu640Met
XM_005257110.1:c.3091C>A	XP_005257167.1:p.Leu1031Met
XM_006721737.2:c.1978C>A	XP_006721800.2:p.Leu660Met
XM_006721737.3:c.1978C>A	XP_006721800.2:p.Leu660Met
NM_000789.4:c.3640C>A MANE Select	NP_000780.1:p.Leu1214Met
NM_001178057.2:c.1795C>A	NP_001171528.1:p.Leu599Met
NM_152830.3:c.1918C>A	NP_690043.1:p.Leu640Met
NM_001382700.1:c.3073C>A	NP_001369629.1:p.Leu1025Met
NM_001382701.1:c.2788C>A	NP_001369630.1:p.Leu930Met
NM_001382702.1:c.1255C>A	NP_001369631.1:p.Leu419Met
NR_168483.1:n.2018C>A