Canonical Allele Identifier: CA400557916

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566071T>A (hg19) ; chr17:g.63488710T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488710T>A , CM000679.2:g.63488710T>A	GRCh38
NC_000017.10:g.61566071T>A , CM000679.1:g.61566071T>A	GRCh37
NC_000017.9:g.58919803T>A	NCBI36
NG_011648.1:g.16638T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2368T>A MANE Select	ENSP00000290866.4:p.Trp790Arg
ENST00000290863.10:c.646T>A	ENSP00000290863.6:p.Trp216Arg
ENST00000290866.9:c.2368T>A	ENSP00000290866.4:p.Trp790Arg
ENST00000413513.7:c.646T>A	ENSP00000392247.3:p.Trp216Arg
ENST00000428043.5:c.2368T>A	ENSP00000397593.2:p.Trp790Arg
ENST00000577647.2:c.646T>A	ENSP00000464149.1:p.Trp216Arg
ENST00000578839.5:c.*438T>A	ENSP00000462110.2:n.*438T>A
ENST00000579204.1:c.627T>A	ENSP00000464629.1:n.627T>A
ENST00000579314.5:c.*97T>A	ENSP00000462599.1:n.*97T>A
ENST00000582005.5:c.*288T>A	ENSP00000462002.1:n.*288T>A
ENST00000582761.1:c.136T>A	ENSP00000462909.1:p.Trp46Arg
ENST00000584865.5:n.314T>A
NM_000789.3:c.2368T>A	NP_000780.1:p.Trp790Arg
NM_001178057.1:c.646T>A	NP_001171528.1:p.Trp216Arg
NM_152830.2:c.646T>A	NP_690043.1:p.Trp216Arg
XM_005257110.1:c.1819T>A	XP_005257167.1:p.Trp607Arg
XM_006721737.2:c.706T>A	XP_006721800.2:p.Trp236Arg
XM_006721737.3:c.706T>A	XP_006721800.2:p.Trp236Arg
NM_000789.4:c.2368T>A MANE Select	NP_000780.1:p.Trp790Arg
NM_001178057.2:c.646T>A	NP_001171528.1:p.Trp216Arg
NM_152830.3:c.646T>A	NP_690043.1:p.Trp216Arg
NM_001382700.1:c.1801T>A	NP_001369629.1:p.Trp601Arg
NM_001382701.1:c.1516T>A	NP_001369630.1:p.Trp506Arg
NM_001382702.1:c.298T>A	NP_001369631.1:p.Trp100Arg
NR_168483.1:n.746T>A