Canonical Allele Identifier: CA400567392

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574266T>G (hg19) ; chr17:g.63496905T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496905T>G , CM000679.2:g.63496905T>G	GRCh38
NC_000017.10:g.61574266T>G , CM000679.1:g.61574266T>G	GRCh37
NC_000017.9:g.58927998T>G	NCBI36
NG_011648.1:g.24833T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3611T>G MANE Select	ENSP00000290866.4:p.Leu1204Arg
ENST00000290863.10:c.1889T>G	ENSP00000290863.6:p.Leu630Arg
ENST00000290866.9:c.3611T>G	ENSP00000290866.4:p.Leu1204Arg
ENST00000413513.7:c.1766T>G	ENSP00000392247.3:p.Leu589Arg
ENST00000428043.5:c.3611T>G	ENSP00000397593.2:p.Leu1204Arg
ENST00000577418.5:n.621T>G
ENST00000577647.2:c.1889T>G	ENSP00000464149.1:p.Leu630Arg
ENST00000578839.5:c.*1366T>G	ENSP00000462110.2:n.*1366T>G
ENST00000579314.5:c.*1340T>G	ENSP00000462599.1:n.*1340T>G
ENST00000579409.1:c.298T>G
ENST00000582244.1:n.485T>G
NM_000789.3:c.3611T>G	NP_000780.1:p.Leu1204Arg
NM_001178057.1:c.1766T>G	NP_001171528.1:p.Leu589Arg
NM_152830.2:c.1889T>G	NP_690043.1:p.Leu630Arg
XM_005257110.1:c.3062T>G	XP_005257167.1:p.Leu1021Arg
XM_006721737.2:c.1949T>G	XP_006721800.2:p.Leu650Arg
XM_006721737.3:c.1949T>G	XP_006721800.2:p.Leu650Arg
NM_000789.4:c.3611T>G MANE Select	NP_000780.1:p.Leu1204Arg
NM_001178057.2:c.1766T>G	NP_001171528.1:p.Leu589Arg
NM_152830.3:c.1889T>G	NP_690043.1:p.Leu630Arg
NM_001382700.1:c.3044T>G	NP_001369629.1:p.Leu1015Arg
NM_001382701.1:c.2759T>G	NP_001369630.1:p.Leu920Arg
NM_001382702.1:c.1226T>G	NP_001369631.1:p.Leu409Arg
NR_168483.1:n.1989T>G