Canonical Allele Identifier: CA400558325

Gene: ACE

Linked Data

• COSMIC: COSM982597 ; COSM1589054
• MyVariant Identifiers: chr17:g.61566369G>T (hg19) ; chr17:g.63489008G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63489008G>T , CM000679.2:g.63489008G>T	GRCh38
NC_000017.10:g.61566369G>T , CM000679.1:g.61566369G>T	GRCh37
NC_000017.9:g.58920101G>T	NCBI36
NG_011648.1:g.16936G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2517G>T MANE Select	ENSP00000290866.4:p.Glu839Asp
ENST00000290863.10:c.795G>T	ENSP00000290863.6:p.Glu265Asp
ENST00000290866.9:c.2517G>T	ENSP00000290866.4:p.Glu839Asp
ENST00000413513.7:c.795G>T	ENSP00000392247.3:p.Glu265Asp
ENST00000428043.5:c.2517G>T	ENSP00000397593.2:p.Glu839Asp
ENST00000577647.2:c.795G>T	ENSP00000464149.1:p.Glu265Asp
ENST00000578839.5:c.*519+217G>T	ENSP00000462110.2:n.*519+217G>T
ENST00000579204.1:c.776G>T	ENSP00000464629.1:n.776G>T
ENST00000579314.5:c.*246G>T	ENSP00000462599.1:n.*246G>T
ENST00000582005.5:c.*437G>T	ENSP00000462002.1:n.*437G>T
ENST00000582761.1:c.285G>T	ENSP00000462909.1:p.Glu95Asp
ENST00000584865.5:n.463G>T
NM_000789.3:c.2517G>T	NP_000780.1:p.Glu839Asp
NM_001178057.1:c.795G>T	NP_001171528.1:p.Glu265Asp
NM_152830.2:c.795G>T	NP_690043.1:p.Glu265Asp
XM_005257110.1:c.1968G>T	XP_005257167.1:p.Glu656Asp
XM_006721737.2:c.855G>T	XP_006721800.2:p.Glu285Asp
XM_006721737.3:c.855G>T	XP_006721800.2:p.Glu285Asp
NM_000789.4:c.2517G>T MANE Select	NP_000780.1:p.Glu839Asp
NM_001178057.2:c.795G>T	NP_001171528.1:p.Glu265Asp
NM_152830.3:c.795G>T	NP_690043.1:p.Glu265Asp
NM_001382700.1:c.1950G>T	NP_001369629.1:p.Glu650Asp
NM_001382701.1:c.1665G>T	NP_001369630.1:p.Glu555Asp
NM_001382702.1:c.379+217G>T	NP_001369631.1:n.379+217G>T
NR_168483.1:n.895G>T