Canonical Allele Identifier: CA400566689

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574190T>C (hg19) ; chr17:g.63496829T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496829T>C , CM000679.2:g.63496829T>C	GRCh38
NC_000017.10:g.61574190T>C , CM000679.1:g.61574190T>C	GRCh37
NC_000017.9:g.58927922T>C	NCBI36
NG_011648.1:g.24757T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3535T>C MANE Select	ENSP00000290866.4:p.Trp1179Arg
ENST00000290863.10:c.1813T>C	ENSP00000290863.6:p.Trp605Arg
ENST00000290866.9:c.3535T>C	ENSP00000290866.4:p.Trp1179Arg
ENST00000413513.7:c.1690T>C	ENSP00000392247.3:p.Trp564Arg
ENST00000428043.5:c.3535T>C	ENSP00000397593.2:p.Trp1179Arg
ENST00000577418.5:n.545T>C
ENST00000577647.2:c.1813T>C	ENSP00000464149.1:p.Trp605Arg
ENST00000578839.5:c.*1290T>C	ENSP00000462110.2:n.*1290T>C
ENST00000579314.5:c.*1264T>C	ENSP00000462599.1:n.*1264T>C
ENST00000579409.1:c.222T>C
ENST00000582244.1:n.409T>C
NM_000789.3:c.3535T>C	NP_000780.1:p.Trp1179Arg
NM_001178057.1:c.1690T>C	NP_001171528.1:p.Trp564Arg
NM_152830.2:c.1813T>C	NP_690043.1:p.Trp605Arg
XM_005257110.1:c.2986T>C	XP_005257167.1:p.Trp996Arg
XM_006721737.2:c.1873T>C	XP_006721800.2:p.Trp625Arg
XM_006721737.3:c.1873T>C	XP_006721800.2:p.Trp625Arg
NM_000789.4:c.3535T>C MANE Select	NP_000780.1:p.Trp1179Arg
NM_001178057.2:c.1690T>C	NP_001171528.1:p.Trp564Arg
NM_152830.3:c.1813T>C	NP_690043.1:p.Trp605Arg
NM_001382700.1:c.2968T>C	NP_001369629.1:p.Trp990Arg
NM_001382701.1:c.2683T>C	NP_001369630.1:p.Trp895Arg
NM_001382702.1:c.1150T>C	NP_001369631.1:p.Trp384Arg
NR_168483.1:n.1913T>C