Canonical Allele Identifier: CA400568822

Gene: ACE

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3782T>C MANE Select	ENSP00000290866.4:p.Leu1261Pro
ENST00000290863.10:c.2060T>C	ENSP00000290863.6:p.Leu687Pro
ENST00000290866.9:c.3782T>C	ENSP00000290866.4:p.Leu1261Pro
ENST00000413513.7:c.1937T>C	ENSP00000392247.3:p.Leu646Pro
ENST00000428043.5:c.*204T>C	ENSP00000397593.2:n.*204T>C
ENST00000577647.2:c.1969+242T>C	ENSP00000464149.1:n.1969+242T>C
ENST00000578839.5:c.*1537T>C	ENSP00000462110.2:n.*1537T>C
ENST00000579314.5:c.*1511T>C	ENSP00000462599.1:n.*1511T>C
NM_000789.3:c.3782T>C	NP_000780.1:p.Leu1261Pro
NM_001178057.1:c.1937T>C	NP_001171528.1:p.Leu646Pro
NM_152830.2:c.2060T>C	NP_690043.1:p.Leu687Pro
XM_005257110.1:c.3233T>C	XP_005257167.1:p.Leu1078Pro
XM_006721737.2:c.2120T>C	XP_006721800.2:p.Leu707Pro
XM_006721737.3:c.2120T>C	XP_006721800.2:p.Leu707Pro
NM_000789.4:c.3782T>C MANE Select	NP_000780.1:p.Leu1261Pro
NM_001178057.2:c.1937T>C	NP_001171528.1:p.Leu646Pro
NM_152830.3:c.2060T>C	NP_690043.1:p.Leu687Pro
NM_001382700.1:c.3215T>C	NP_001369629.1:p.Leu1072Pro
NM_001382701.1:c.2930T>C	NP_001369630.1:p.Leu977Pro
NM_001382702.1:c.1397T>C	NP_001369631.1:p.Leu466Pro
NR_168483.1:n.2160T>C