Canonical Allele Identifier: CA400568820

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574588T>A (hg19) ; chr17:g.63497227T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497227T>A , CM000679.2:g.63497227T>A	GRCh38
NC_000017.10:g.61574588T>A , CM000679.1:g.61574588T>A	GRCh37
NC_000017.9:g.58928320T>A	NCBI36
NG_011648.1:g.25155T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3782T>A MANE Select	ENSP00000290866.4:p.Leu1261Gln
ENST00000290863.10:c.2060T>A	ENSP00000290863.6:p.Leu687Gln
ENST00000290866.9:c.3782T>A	ENSP00000290866.4:p.Leu1261Gln
ENST00000413513.7:c.1937T>A	ENSP00000392247.3:p.Leu646Gln
ENST00000428043.5:c.*204T>A	ENSP00000397593.2:n.*204T>A
ENST00000577647.2:c.1969+242T>A	ENSP00000464149.1:n.1969+242T>A
ENST00000578839.5:c.*1537T>A	ENSP00000462110.2:n.*1537T>A
ENST00000579314.5:c.*1511T>A	ENSP00000462599.1:n.*1511T>A
NM_000789.3:c.3782T>A	NP_000780.1:p.Leu1261Gln
NM_001178057.1:c.1937T>A	NP_001171528.1:p.Leu646Gln
NM_152830.2:c.2060T>A	NP_690043.1:p.Leu687Gln
XM_005257110.1:c.3233T>A	XP_005257167.1:p.Leu1078Gln
XM_006721737.2:c.2120T>A	XP_006721800.2:p.Leu707Gln
XM_006721737.3:c.2120T>A	XP_006721800.2:p.Leu707Gln
NM_000789.4:c.3782T>A MANE Select	NP_000780.1:p.Leu1261Gln
NM_001178057.2:c.1937T>A	NP_001171528.1:p.Leu646Gln
NM_152830.3:c.2060T>A	NP_690043.1:p.Leu687Gln
NM_001382700.1:c.3215T>A	NP_001369629.1:p.Leu1072Gln
NM_001382701.1:c.2930T>A	NP_001369630.1:p.Leu977Gln
NM_001382702.1:c.1397T>A	NP_001369631.1:p.Leu466Gln
NR_168483.1:n.2160T>A