Canonical Allele Identifier: CA400556228

Gene: ACE

Linked Data

• COSMIC: COSM3520665 ; COSM3520666 ; COSM3520667
• MyVariant Identifiers: chr17:g.61564035G>A (hg19) ; chr17:g.63486674G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486674G>A , CM000679.2:g.63486674G>A	GRCh38
NC_000017.10:g.61564035G>A , CM000679.1:g.61564035G>A	GRCh37
NC_000017.9:g.58917767G>A	NCBI36
NG_011648.1:g.14602G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2176G>A MANE Select	ENSP00000290866.4:p.Asp726Asn
ENST00000290863.10:c.454G>A	ENSP00000290863.6:p.Asp152Asn
ENST00000290866.9:c.2176G>A	ENSP00000290866.4:p.Asp726Asn
ENST00000413513.7:c.454G>A	ENSP00000392247.3:p.Asp152Asn
ENST00000428043.5:c.2176G>A	ENSP00000397593.2:p.Asp726Asn
ENST00000577647.2:c.454G>A	ENSP00000464149.1:p.Asp152Asn
ENST00000578839.5:c.*246G>A	ENSP00000462110.2:n.*246G>A
ENST00000579204.1:c.357G>A	ENSP00000464629.1:n.357G>A
ENST00000579314.5:c.454G>A	ENSP00000462599.1:p.Asp152Asn
ENST00000579726.5:c.738G>A
ENST00000582005.5:c.*96G>A	ENSP00000462002.1:n.*96G>A
NM_000789.3:c.2176G>A	NP_000780.1:p.Asp726Asn
NM_001178057.1:c.454G>A	NP_001171528.1:p.Asp152Asn
NM_152830.2:c.454G>A	NP_690043.1:p.Asp152Asn
XM_005257110.1:c.1627G>A	XP_005257167.1:p.Asp543Asn
XM_006721737.2:c.514G>A	XP_006721800.2:p.Asp172Asn
XM_006721737.3:c.514G>A	XP_006721800.2:p.Asp172Asn
NM_000789.4:c.2176G>A MANE Select	NP_000780.1:p.Asp726Asn
NM_001178057.2:c.454G>A	NP_001171528.1:p.Asp152Asn
NM_152830.3:c.454G>A	NP_690043.1:p.Asp152Asn
NM_001382700.1:c.1609G>A	NP_001369629.1:p.Asp537Asn
NM_001382701.1:c.1324G>A	NP_001369630.1:p.Asp442Asn
NM_001382702.1:c.106G>A	NP_001369631.1:p.Asp36Asn
NR_168483.1:n.476G>A