Canonical Allele Identifier: CA400556949

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61564426T>G (hg19) ; chr17:g.63487065T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63487065T>G , CM000679.2:g.63487065T>G	GRCh38
NC_000017.10:g.61564426T>G , CM000679.1:g.61564426T>G	GRCh37
NC_000017.9:g.58918158T>G	NCBI36
NG_011648.1:g.14993T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2297T>G MANE Select	ENSP00000290866.4:p.Leu766Arg
ENST00000290863.10:c.575T>G	ENSP00000290863.6:p.Leu192Arg
ENST00000290866.9:c.2297T>G	ENSP00000290866.4:p.Leu766Arg
ENST00000413513.7:c.575T>G	ENSP00000392247.3:p.Leu192Arg
ENST00000428043.5:c.2297T>G	ENSP00000397593.2:p.Leu766Arg
ENST00000577647.2:c.575T>G	ENSP00000464149.1:p.Leu192Arg
ENST00000578839.5:c.*367T>G	ENSP00000462110.2:n.*367T>G
ENST00000579204.1:c.478T>G	ENSP00000464629.1:n.478T>G
ENST00000579314.5:c.575T>G	ENSP00000462599.1:p.Leu192Arg
ENST00000579726.5:c.859T>G
ENST00000582005.5:c.*217T>G	ENSP00000462002.1:n.*217T>G
ENST00000582761.1:c.65T>G	ENSP00000462909.1:p.Leu22Arg
ENST00000584865.5:n.243T>G
NM_000789.3:c.2297T>G	NP_000780.1:p.Leu766Arg
NM_001178057.1:c.575T>G	NP_001171528.1:p.Leu192Arg
NM_152830.2:c.575T>G	NP_690043.1:p.Leu192Arg
XM_005257110.1:c.1748T>G	XP_005257167.1:p.Leu583Arg
XM_006721737.2:c.635T>G	XP_006721800.2:p.Leu212Arg
XM_006721737.3:c.635T>G	XP_006721800.2:p.Leu212Arg
NM_000789.4:c.2297T>G MANE Select	NP_000780.1:p.Leu766Arg
NM_001178057.2:c.575T>G	NP_001171528.1:p.Leu192Arg
NM_152830.3:c.575T>G	NP_690043.1:p.Leu192Arg
NM_001382700.1:c.1730T>G	NP_001369629.1:p.Leu577Arg
NM_001382701.1:c.1445T>G	NP_001369630.1:p.Leu482Arg
NM_001382702.1:c.227T>G	NP_001369631.1:p.Leu76Arg
NR_168483.1:n.597T>G