Canonical Allele Identifier: CA400568283

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574501G>C (hg19) ; chr17:g.63497140G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497140G>C , CM000679.2:g.63497140G>C	GRCh38
NC_000017.10:g.61574501G>C , CM000679.1:g.61574501G>C	GRCh37
NC_000017.9:g.58928233G>C	NCBI36
NG_011648.1:g.25068G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3695G>C MANE Select	ENSP00000290866.4:p.Arg1232Pro
ENST00000290863.10:c.1973G>C	ENSP00000290863.6:p.Arg658Pro
ENST00000290866.9:c.3695G>C	ENSP00000290866.4:p.Arg1232Pro
ENST00000413513.7:c.1850G>C	ENSP00000392247.3:p.Arg617Pro
ENST00000428043.5:c.*117G>C	ENSP00000397593.2:n.*117G>C
ENST00000577418.5:n.705G>C
ENST00000577647.2:c.1969+155G>C	ENSP00000464149.1:n.1969+155G>C
ENST00000578839.5:c.*1450G>C	ENSP00000462110.2:n.*1450G>C
ENST00000579314.5:c.*1424G>C	ENSP00000462599.1:n.*1424G>C
ENST00000579409.1:c.533G>C
NM_000789.3:c.3695G>C	NP_000780.1:p.Arg1232Pro
NM_001178057.1:c.1850G>C	NP_001171528.1:p.Arg617Pro
NM_152830.2:c.1973G>C	NP_690043.1:p.Arg658Pro
XM_005257110.1:c.3146G>C	XP_005257167.1:p.Arg1049Pro
XM_006721737.2:c.2033G>C	XP_006721800.2:p.Arg678Pro
XM_006721737.3:c.2033G>C	XP_006721800.2:p.Arg678Pro
NM_000789.4:c.3695G>C MANE Select	NP_000780.1:p.Arg1232Pro
NM_001178057.2:c.1850G>C	NP_001171528.1:p.Arg617Pro
NM_152830.3:c.1973G>C	NP_690043.1:p.Arg658Pro
NM_001382700.1:c.3128G>C	NP_001369629.1:p.Arg1043Pro
NM_001382701.1:c.2843G>C	NP_001369630.1:p.Arg948Pro
NM_001382702.1:c.1310G>C	NP_001369631.1:p.Arg437Pro
NR_168483.1:n.2073G>C