Canonical Allele Identifier: CA400567446

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574276G>T (hg19) ; chr17:g.63496915G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496915G>T , CM000679.2:g.63496915G>T	GRCh38
NC_000017.10:g.61574276G>T , CM000679.1:g.61574276G>T	GRCh37
NC_000017.9:g.58928008G>T	NCBI36
NG_011648.1:g.24843G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3621G>T MANE Select	ENSP00000290866.4:p.Trp1207Cys
ENST00000290863.10:c.1899G>T	ENSP00000290863.6:p.Trp633Cys
ENST00000290866.9:c.3621G>T	ENSP00000290866.4:p.Trp1207Cys
ENST00000413513.7:c.1776G>T	ENSP00000392247.3:p.Trp592Cys
ENST00000428043.5:c.3621G>T	ENSP00000397593.2:p.Trp1207Cys
ENST00000577418.5:n.631G>T
ENST00000577647.2:c.1899G>T	ENSP00000464149.1:p.Trp633Cys
ENST00000578839.5:c.*1376G>T	ENSP00000462110.2:n.*1376G>T
ENST00000579314.5:c.*1350G>T	ENSP00000462599.1:n.*1350G>T
ENST00000579409.1:c.308G>T
ENST00000582244.1:n.495G>T
NM_000789.3:c.3621G>T	NP_000780.1:p.Trp1207Cys
NM_001178057.1:c.1776G>T	NP_001171528.1:p.Trp592Cys
NM_152830.2:c.1899G>T	NP_690043.1:p.Trp633Cys
XM_005257110.1:c.3072G>T	XP_005257167.1:p.Trp1024Cys
XM_006721737.2:c.1959G>T	XP_006721800.2:p.Trp653Cys
XM_006721737.3:c.1959G>T	XP_006721800.2:p.Trp653Cys
NM_000789.4:c.3621G>T MANE Select	NP_000780.1:p.Trp1207Cys
NM_001178057.2:c.1776G>T	NP_001171528.1:p.Trp592Cys
NM_152830.3:c.1899G>T	NP_690043.1:p.Trp633Cys
NM_001382700.1:c.3054G>T	NP_001369629.1:p.Trp1018Cys
NM_001382701.1:c.2769G>T	NP_001369630.1:p.Trp923Cys
NM_001382702.1:c.1236G>T	NP_001369631.1:p.Trp412Cys
NR_168483.1:n.1999G>T