Canonical Allele Identifier: CA400557904

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566064G>T (hg19) ; chr17:g.63488703G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488703G>T , CM000679.2:g.63488703G>T	GRCh38
NC_000017.10:g.61566064G>T , CM000679.1:g.61566064G>T	GRCh37
NC_000017.9:g.58919796G>T	NCBI36
NG_011648.1:g.16631G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2361G>T MANE Select	ENSP00000290866.4:p.Trp787Cys
ENST00000290863.10:c.639G>T	ENSP00000290863.6:p.Trp213Cys
ENST00000290866.9:c.2361G>T	ENSP00000290866.4:p.Trp787Cys
ENST00000413513.7:c.639G>T	ENSP00000392247.3:p.Trp213Cys
ENST00000428043.5:c.2361G>T	ENSP00000397593.2:p.Trp787Cys
ENST00000577647.2:c.639G>T	ENSP00000464149.1:p.Trp213Cys
ENST00000578839.5:c.*431G>T	ENSP00000462110.2:n.*431G>T
ENST00000579204.1:c.620G>T	ENSP00000464629.1:n.620G>T
ENST00000579314.5:c.*90G>T	ENSP00000462599.1:n.*90G>T
ENST00000582005.5:c.*281G>T	ENSP00000462002.1:n.*281G>T
ENST00000582761.1:c.129G>T	ENSP00000462909.1:p.Trp43Cys
ENST00000584865.5:n.307G>T
NM_000789.3:c.2361G>T	NP_000780.1:p.Trp787Cys
NM_001178057.1:c.639G>T	NP_001171528.1:p.Trp213Cys
NM_152830.2:c.639G>T	NP_690043.1:p.Trp213Cys
XM_005257110.1:c.1812G>T	XP_005257167.1:p.Trp604Cys
XM_006721737.2:c.699G>T	XP_006721800.2:p.Trp233Cys
XM_006721737.3:c.699G>T	XP_006721800.2:p.Trp233Cys
NM_000789.4:c.2361G>T MANE Select	NP_000780.1:p.Trp787Cys
NM_001178057.2:c.639G>T	NP_001171528.1:p.Trp213Cys
NM_152830.3:c.639G>T	NP_690043.1:p.Trp213Cys
NM_001382700.1:c.1794G>T	NP_001369629.1:p.Trp598Cys
NM_001382701.1:c.1509G>T	NP_001369630.1:p.Trp503Cys
NM_001382702.1:c.291G>T	NP_001369631.1:p.Trp97Cys
NR_168483.1:n.739G>T