Canonical Allele Identifier: CA400558475

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566395T>G (hg19) ; chr17:g.63489034T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63489034T>G , CM000679.2:g.63489034T>G	GRCh38
NC_000017.10:g.61566395T>G , CM000679.1:g.61566395T>G	GRCh37
NC_000017.9:g.58920127T>G	NCBI36
NG_011648.1:g.16962T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2543T>G MANE Select	ENSP00000290866.4:p.Leu848Arg
ENST00000290863.10:c.821T>G	ENSP00000290863.6:p.Leu274Arg
ENST00000290866.9:c.2543T>G	ENSP00000290866.4:p.Leu848Arg
ENST00000413513.7:c.821T>G	ENSP00000392247.3:p.Leu274Arg
ENST00000428043.5:c.2543T>G	ENSP00000397593.2:p.Leu848Arg
ENST00000577647.2:c.821T>G	ENSP00000464149.1:p.Leu274Arg
ENST00000578839.5:c.*519+243T>G	ENSP00000462110.2:n.*519+243T>G
ENST00000579204.1:c.802T>G	ENSP00000464629.1:n.802T>G
ENST00000579314.5:c.*272T>G	ENSP00000462599.1:n.*272T>G
ENST00000582005.5:c.*463T>G	ENSP00000462002.1:n.*463T>G
ENST00000582761.1:c.311T>G	ENSP00000462909.1:p.Leu104Arg
ENST00000584865.5:n.489T>G
NM_000789.3:c.2543T>G	NP_000780.1:p.Leu848Arg
NM_001178057.1:c.821T>G	NP_001171528.1:p.Leu274Arg
NM_152830.2:c.821T>G	NP_690043.1:p.Leu274Arg
XM_005257110.1:c.1994T>G	XP_005257167.1:p.Leu665Arg
XM_006721737.2:c.881T>G	XP_006721800.2:p.Leu294Arg
XM_006721737.3:c.881T>G	XP_006721800.2:p.Leu294Arg
NM_000789.4:c.2543T>G MANE Select	NP_000780.1:p.Leu848Arg
NM_001178057.2:c.821T>G	NP_001171528.1:p.Leu274Arg
NM_152830.3:c.821T>G	NP_690043.1:p.Leu274Arg
NM_001382700.1:c.1976T>G	NP_001369629.1:p.Leu659Arg
NM_001382701.1:c.1691T>G	NP_001369630.1:p.Leu564Arg
NM_001382702.1:c.379+243T>G	NP_001369631.1:n.379+243T>G
NR_168483.1:n.921T>G