Canonical Allele Identifier: CA400556333

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61564054T>G (hg19) ; chr17:g.63486693T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486693T>G , CM000679.2:g.63486693T>G	GRCh38
NC_000017.10:g.61564054T>G , CM000679.1:g.61564054T>G	GRCh37
NC_000017.9:g.58917786T>G	NCBI36
NG_011648.1:g.14621T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2195T>G MANE Select	ENSP00000290866.4:p.Leu732Arg
ENST00000290863.10:c.473T>G	ENSP00000290863.6:p.Leu158Arg
ENST00000290866.9:c.2195T>G	ENSP00000290866.4:p.Leu732Arg
ENST00000413513.7:c.473T>G	ENSP00000392247.3:p.Leu158Arg
ENST00000428043.5:c.2195T>G	ENSP00000397593.2:p.Leu732Arg
ENST00000577647.2:c.473T>G	ENSP00000464149.1:p.Leu158Arg
ENST00000578839.5:c.*265T>G	ENSP00000462110.2:n.*265T>G
ENST00000579204.1:c.376T>G	ENSP00000464629.1:n.376T>G
ENST00000579314.5:c.473T>G	ENSP00000462599.1:p.Leu158Arg
ENST00000579726.5:c.757T>G
ENST00000582005.5:c.*115T>G	ENSP00000462002.1:n.*115T>G
NM_000789.3:c.2195T>G	NP_000780.1:p.Leu732Arg
NM_001178057.1:c.473T>G	NP_001171528.1:p.Leu158Arg
NM_152830.2:c.473T>G	NP_690043.1:p.Leu158Arg
XM_005257110.1:c.1646T>G	XP_005257167.1:p.Leu549Arg
XM_006721737.2:c.533T>G	XP_006721800.2:p.Leu178Arg
XM_006721737.3:c.533T>G	XP_006721800.2:p.Leu178Arg
NM_000789.4:c.2195T>G MANE Select	NP_000780.1:p.Leu732Arg
NM_001178057.2:c.473T>G	NP_001171528.1:p.Leu158Arg
NM_152830.3:c.473T>G	NP_690043.1:p.Leu158Arg
NM_001382700.1:c.1628T>G	NP_001369629.1:p.Leu543Arg
NM_001382701.1:c.1343T>G	NP_001369630.1:p.Leu448Arg
NM_001382702.1:c.125T>G	NP_001369631.1:p.Leu42Arg
NR_168483.1:n.495T>G