Canonical Allele Identifier: CA501184670

Gene: ACE

Linked Data

• dbSNP Id: rs1314277860
• gnomAD v2: 17-61564068-C-T
• MyVariant Identifiers: chr17:g.61564068C>T (hg19) ; chr17:g.63486707C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486707C>T , CM000679.2:g.63486707C>T	GRCh38
NC_000017.10:g.61564068C>T , CM000679.1:g.61564068C>T	GRCh37
NC_000017.9:g.58917800C>T	NCBI36
NG_011648.1:g.14635C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2209C>T MANE Select	ENSP00000290866.4:p.Leu737=
ENST00000290863.10:c.487C>T	ENSP00000290863.6:p.Leu163=
ENST00000290866.9:c.2209C>T	ENSP00000290866.4:p.Leu737=
ENST00000413513.7:c.487C>T	ENSP00000392247.3:p.Leu163=
ENST00000428043.5:c.2209C>T	ENSP00000397593.2:p.Leu737=
ENST00000577647.2:c.487C>T	ENSP00000464149.1:p.Leu163=
ENST00000578839.5:c.*279C>T	ENSP00000462110.2:n.*279C>T
ENST00000579204.1:c.390C>T	ENSP00000464629.1:n.390C>T
ENST00000579314.5:c.487C>T	ENSP00000462599.1:p.Leu163=
ENST00000579726.5:c.771C>T
ENST00000582005.5:c.*129C>T	ENSP00000462002.1:n.*129C>T
NM_000789.3:c.2209C>T	NP_000780.1:p.Leu737=
NM_001178057.1:c.487C>T	NP_001171528.1:p.Leu163=
NM_152830.2:c.487C>T	NP_690043.1:p.Leu163=
XM_005257110.1:c.1660C>T	XP_005257167.1:p.Leu554=
XM_006721737.2:c.547C>T	XP_006721800.2:p.Leu183=
XM_006721737.3:c.547C>T	XP_006721800.2:p.Leu183=
NM_000789.4:c.2209C>T MANE Select	NP_000780.1:p.Leu737=
NM_001178057.2:c.487C>T	NP_001171528.1:p.Leu163=
NM_152830.3:c.487C>T	NP_690043.1:p.Leu163=
NM_001382700.1:c.1642C>T	NP_001369629.1:p.Leu548=
NM_001382701.1:c.1357C>T	NP_001369630.1:p.Leu453=
NM_001382702.1:c.139C>T	NP_001369631.1:p.Leu47=
NR_168483.1:n.509C>T