Canonical Allele Identifier: CA400556562

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61564353A>C (hg19) ; chr17:g.63486992A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486992A>C , CM000679.2:g.63486992A>C	GRCh38
NC_000017.10:g.61564353A>C , CM000679.1:g.61564353A>C	GRCh37
NC_000017.9:g.58918085A>C	NCBI36
NG_011648.1:g.14920A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2224A>C MANE Select	ENSP00000290866.4:p.Lys742Gln
ENST00000290863.10:c.502A>C	ENSP00000290863.6:p.Lys168Gln
ENST00000290866.9:c.2224A>C	ENSP00000290866.4:p.Lys742Gln
ENST00000413513.7:c.502A>C	ENSP00000392247.3:p.Lys168Gln
ENST00000428043.5:c.2224A>C	ENSP00000397593.2:p.Lys742Gln
ENST00000577647.2:c.502A>C	ENSP00000464149.1:p.Lys168Gln
ENST00000578839.5:c.*294A>C	ENSP00000462110.2:n.*294A>C
ENST00000579204.1:c.405A>C	ENSP00000464629.1:n.405A>C
ENST00000579314.5:c.502A>C	ENSP00000462599.1:p.Lys168Gln
ENST00000579726.5:c.786A>C
ENST00000582005.5:c.*144A>C	ENSP00000462002.1:n.*144A>C
ENST00000584865.5:n.170A>C
NM_000789.3:c.2224A>C	NP_000780.1:p.Lys742Gln
NM_001178057.1:c.502A>C	NP_001171528.1:p.Lys168Gln
NM_152830.2:c.502A>C	NP_690043.1:p.Lys168Gln
XM_005257110.1:c.1675A>C	XP_005257167.1:p.Lys559Gln
XM_006721737.2:c.562A>C	XP_006721800.2:p.Lys188Gln
XM_006721737.3:c.562A>C	XP_006721800.2:p.Lys188Gln
NM_000789.4:c.2224A>C MANE Select	NP_000780.1:p.Lys742Gln
NM_001178057.2:c.502A>C	NP_001171528.1:p.Lys168Gln
NM_152830.3:c.502A>C	NP_690043.1:p.Lys168Gln
NM_001382700.1:c.1657A>C	NP_001369629.1:p.Lys553Gln
NM_001382701.1:c.1372A>C	NP_001369630.1:p.Lys458Gln
NM_001382702.1:c.154A>C	NP_001369631.1:p.Lys52Gln
NR_168483.1:n.524A>C