Canonical Allele Identifier: CA400555979

Gene: ACE

Linked Data

• COSMIC: COSM1630329 ; COSM1630330
• MyVariant Identifiers: chr17:g.61563990C>A (hg19) ; chr17:g.63486629C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486629C>A , CM000679.2:g.63486629C>A	GRCh38
NC_000017.10:g.61563990C>A , CM000679.1:g.61563990C>A	GRCh37
NC_000017.9:g.58917722C>A	NCBI36
NG_011648.1:g.14557C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2131C>A MANE Select	ENSP00000290866.4:p.Gln711Lys
ENST00000290863.10:c.409C>A	ENSP00000290863.6:p.Gln137Lys
ENST00000290866.9:c.2131C>A	ENSP00000290866.4:p.Gln711Lys
ENST00000413513.7:c.409C>A	ENSP00000392247.3:p.Gln137Lys
ENST00000428043.5:c.2131C>A	ENSP00000397593.2:p.Gln711Lys
ENST00000577647.2:c.409C>A	ENSP00000464149.1:p.Gln137Lys
ENST00000578839.5:c.*201C>A	ENSP00000462110.2:n.*201C>A
ENST00000579204.1:c.312C>A	ENSP00000464629.1:n.312C>A
ENST00000579314.5:c.409C>A	ENSP00000462599.1:p.Gln137Lys
ENST00000579726.5:c.693C>A
ENST00000582005.5:c.*51C>A	ENSP00000462002.1:n.*51C>A
NM_000789.3:c.2131C>A	NP_000780.1:p.Gln711Lys
NM_001178057.1:c.409C>A	NP_001171528.1:p.Gln137Lys
NM_152830.2:c.409C>A	NP_690043.1:p.Gln137Lys
XM_005257110.1:c.1582C>A	XP_005257167.1:p.Gln528Lys
XM_006721737.2:c.469C>A	XP_006721800.2:p.Gln157Lys
XM_006721737.3:c.469C>A	XP_006721800.2:p.Gln157Lys
NM_000789.4:c.2131C>A MANE Select	NP_000780.1:p.Gln711Lys
NM_001178057.2:c.409C>A	NP_001171528.1:p.Gln137Lys
NM_152830.3:c.409C>A	NP_690043.1:p.Gln137Lys
NM_001382700.1:c.1564C>A	NP_001369629.1:p.Gln522Lys
NM_001382701.1:c.1279C>A	NP_001369630.1:p.Gln427Lys
NM_001382702.1:c.61C>A	NP_001369631.1:p.Gln21Lys
NR_168483.1:n.431C>A