Canonical Allele Identifier: CA400556578

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61564355G>C (hg19) ; chr17:g.63486994G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486994G>C , CM000679.2:g.63486994G>C	GRCh38
NC_000017.10:g.61564355G>C , CM000679.1:g.61564355G>C	GRCh37
NC_000017.9:g.58918087G>C	NCBI36
NG_011648.1:g.14922G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2226G>C MANE Select	ENSP00000290866.4:p.Lys742Asn
ENST00000290863.10:c.504G>C	ENSP00000290863.6:p.Lys168Asn
ENST00000290866.9:c.2226G>C	ENSP00000290866.4:p.Lys742Asn
ENST00000413513.7:c.504G>C	ENSP00000392247.3:p.Lys168Asn
ENST00000428043.5:c.2226G>C	ENSP00000397593.2:p.Lys742Asn
ENST00000577647.2:c.504G>C	ENSP00000464149.1:p.Lys168Asn
ENST00000578839.5:c.*296G>C	ENSP00000462110.2:n.*296G>C
ENST00000579204.1:c.407G>C	ENSP00000464629.1:n.407G>C
ENST00000579314.5:c.504G>C	ENSP00000462599.1:p.Lys168Asn
ENST00000579726.5:c.788G>C
ENST00000582005.5:c.*146G>C	ENSP00000462002.1:n.*146G>C
ENST00000584865.5:n.172G>C
NM_000789.3:c.2226G>C	NP_000780.1:p.Lys742Asn
NM_001178057.1:c.504G>C	NP_001171528.1:p.Lys168Asn
NM_152830.2:c.504G>C	NP_690043.1:p.Lys168Asn
XM_005257110.1:c.1677G>C	XP_005257167.1:p.Lys559Asn
XM_006721737.2:c.564G>C	XP_006721800.2:p.Lys188Asn
XM_006721737.3:c.564G>C	XP_006721800.2:p.Lys188Asn
NM_000789.4:c.2226G>C MANE Select	NP_000780.1:p.Lys742Asn
NM_001178057.2:c.504G>C	NP_001171528.1:p.Lys168Asn
NM_152830.3:c.504G>C	NP_690043.1:p.Lys168Asn
NM_001382700.1:c.1659G>C	NP_001369629.1:p.Lys553Asn
NM_001382701.1:c.1374G>C	NP_001369630.1:p.Lys458Asn
NM_001382702.1:c.156G>C	NP_001369631.1:p.Lys52Asn
NR_168483.1:n.526G>C