Canonical Allele Identifier: CA400557890

Gene: ACE

Linked Data

• gnomAD v4: 17-63488697-G-T
• COSMIC: COSM212035
• MyVariant Identifiers: chr17:g.61566058G>T (hg19) ; chr17:g.63488697G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488697G>T , CM000679.2:g.63488697G>T	GRCh38
NC_000017.10:g.61566058G>T , CM000679.1:g.61566058G>T	GRCh37
NC_000017.9:g.58919790G>T	NCBI36
NG_011648.1:g.16625G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2355G>T MANE Select	ENSP00000290866.4:p.Trp785Cys
ENST00000290863.10:c.633G>T	ENSP00000290863.6:p.Trp211Cys
ENST00000290866.9:c.2355G>T	ENSP00000290866.4:p.Trp785Cys
ENST00000413513.7:c.633G>T	ENSP00000392247.3:p.Trp211Cys
ENST00000428043.5:c.2355G>T	ENSP00000397593.2:p.Trp785Cys
ENST00000577647.2:c.633G>T	ENSP00000464149.1:p.Trp211Cys
ENST00000578839.5:c.*425G>T	ENSP00000462110.2:n.*425G>T
ENST00000579204.1:c.614G>T	ENSP00000464629.1:n.614G>T
ENST00000579314.5:c.*84G>T	ENSP00000462599.1:n.*84G>T
ENST00000582005.5:c.*275G>T	ENSP00000462002.1:n.*275G>T
ENST00000582761.1:c.123G>T	ENSP00000462909.1:p.Trp41Cys
ENST00000584865.5:n.301G>T
NM_000789.3:c.2355G>T	NP_000780.1:p.Trp785Cys
NM_001178057.1:c.633G>T	NP_001171528.1:p.Trp211Cys
NM_152830.2:c.633G>T	NP_690043.1:p.Trp211Cys
XM_005257110.1:c.1806G>T	XP_005257167.1:p.Trp602Cys
XM_006721737.2:c.693G>T	XP_006721800.2:p.Trp231Cys
XM_006721737.3:c.693G>T	XP_006721800.2:p.Trp231Cys
NM_000789.4:c.2355G>T MANE Select	NP_000780.1:p.Trp785Cys
NM_001178057.2:c.633G>T	NP_001171528.1:p.Trp211Cys
NM_152830.3:c.633G>T	NP_690043.1:p.Trp211Cys
NM_001382700.1:c.1788G>T	NP_001369629.1:p.Trp596Cys
NM_001382701.1:c.1503G>T	NP_001369630.1:p.Trp501Cys
NM_001382702.1:c.285G>T	NP_001369631.1:p.Trp95Cys
NR_168483.1:n.733G>T