Canonical Allele Identifier: CA501342408

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574634C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497273C>G , CM000679.2:g.63497273C>G	GRCh38
NC_000017.10:g.61574634C>G , CM000679.1:g.61574634C>G	GRCh37
NC_000017.9:g.58928366C>G	NCBI36
NG_011648.1:g.25201C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3828C>G MANE Select	ENSP00000290866.4:p.Leu1276=
ENST00000290863.10:c.2106C>G	ENSP00000290863.6:p.Leu702=
ENST00000290866.9:c.3828C>G	ENSP00000290866.4:p.Leu1276=
ENST00000413513.7:c.1983C>G	ENSP00000392247.3:p.Leu661=
ENST00000428043.5:c.*250C>G	ENSP00000397593.2:n.*250C>G
ENST00000577647.2:c.1969+288C>G	ENSP00000464149.1:n.1969+288C>G
ENST00000578839.5:c.*1583C>G	ENSP00000462110.2:n.*1583C>G
ENST00000579314.5:c.*1557C>G	ENSP00000462599.1:n.*1557C>G
NM_000789.3:c.3828C>G	NP_000780.1:p.Leu1276=
NM_001178057.1:c.1983C>G	NP_001171528.1:p.Leu661=
NM_152830.2:c.2106C>G	NP_690043.1:p.Leu702=
XM_005257110.1:c.3279C>G	XP_005257167.1:p.Leu1093=
XM_006721737.2:c.2166C>G	XP_006721800.2:p.Leu722=
XM_006721737.3:c.2166C>G	XP_006721800.2:p.Leu722=
NM_000789.4:c.3828C>G MANE Select	NP_000780.1:p.Leu1276=
NM_001178057.2:c.1983C>G	NP_001171528.1:p.Leu661=
NM_152830.3:c.2106C>G	NP_690043.1:p.Leu702=
NM_001382700.1:c.3261C>G	NP_001369629.1:p.Leu1087=
NM_001382701.1:c.2976C>G	NP_001369630.1:p.Leu992=
NM_001382702.1:c.1443C>G	NP_001369631.1:p.Leu481=
NR_168483.1:n.2206C>G