Canonical Allele Identifier: CA400568955

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574611C>A (hg19) ; chr17:g.63497250C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497250C>A , CM000679.2:g.63497250C>A	GRCh38
NC_000017.10:g.61574611C>A , CM000679.1:g.61574611C>A	GRCh37
NC_000017.9:g.58928343C>A	NCBI36
NG_011648.1:g.25178C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3805C>A MANE Select	ENSP00000290866.4:p.Leu1269Met
ENST00000290863.10:c.2083C>A	ENSP00000290863.6:p.Leu695Met
ENST00000290866.9:c.3805C>A	ENSP00000290866.4:p.Leu1269Met
ENST00000413513.7:c.1960C>A	ENSP00000392247.3:p.Leu654Met
ENST00000428043.5:c.*227C>A	ENSP00000397593.2:n.*227C>A
ENST00000577647.2:c.1969+265C>A	ENSP00000464149.1:n.1969+265C>A
ENST00000578839.5:c.*1560C>A	ENSP00000462110.2:n.*1560C>A
ENST00000579314.5:c.*1534C>A	ENSP00000462599.1:n.*1534C>A
NM_000789.3:c.3805C>A	NP_000780.1:p.Leu1269Met
NM_001178057.1:c.1960C>A	NP_001171528.1:p.Leu654Met
NM_152830.2:c.2083C>A	NP_690043.1:p.Leu695Met
XM_005257110.1:c.3256C>A	XP_005257167.1:p.Leu1086Met
XM_006721737.2:c.2143C>A	XP_006721800.2:p.Leu715Met
XM_006721737.3:c.2143C>A	XP_006721800.2:p.Leu715Met
NM_000789.4:c.3805C>A MANE Select	NP_000780.1:p.Leu1269Met
NM_001178057.2:c.1960C>A	NP_001171528.1:p.Leu654Met
NM_152830.3:c.2083C>A	NP_690043.1:p.Leu695Met
NM_001382700.1:c.3238C>A	NP_001369629.1:p.Leu1080Met
NM_001382701.1:c.2953C>A	NP_001369630.1:p.Leu985Met
NM_001382702.1:c.1420C>A	NP_001369631.1:p.Leu474Met
NR_168483.1:n.2183C>A