Canonical Allele Identifier: CA400555887

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61563975A>C (hg19) ; chr17:g.63486614A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486614A>C , CM000679.2:g.63486614A>C	GRCh38
NC_000017.10:g.61563975A>C , CM000679.1:g.61563975A>C	GRCh37
NC_000017.9:g.58917707A>C	NCBI36
NG_011648.1:g.14542A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2116A>C MANE Select	ENSP00000290866.4:p.Lys706Gln
ENST00000290863.10:c.394A>C	ENSP00000290863.6:p.Lys132Gln
ENST00000290866.9:c.2116A>C	ENSP00000290866.4:p.Lys706Gln
ENST00000413513.7:c.394A>C	ENSP00000392247.3:p.Lys132Gln
ENST00000428043.5:c.2116A>C	ENSP00000397593.2:p.Lys706Gln
ENST00000577647.2:c.394A>C	ENSP00000464149.1:p.Lys132Gln
ENST00000578839.5:c.*186A>C	ENSP00000462110.2:n.*186A>C
ENST00000579204.1:c.297A>C	ENSP00000464629.1:n.297A>C
ENST00000579314.5:c.394A>C	ENSP00000462599.1:p.Lys132Gln
ENST00000579726.5:c.678A>C
ENST00000582005.5:c.*36A>C	ENSP00000462002.1:n.*36A>C
NM_000789.3:c.2116A>C	NP_000780.1:p.Lys706Gln
NM_001178057.1:c.394A>C	NP_001171528.1:p.Lys132Gln
NM_152830.2:c.394A>C	NP_690043.1:p.Lys132Gln
XM_005257110.1:c.1567A>C	XP_005257167.1:p.Lys523Gln
XM_006721737.2:c.454A>C	XP_006721800.2:p.Lys152Gln
XM_006721737.3:c.454A>C	XP_006721800.2:p.Lys152Gln
NM_000789.4:c.2116A>C MANE Select	NP_000780.1:p.Lys706Gln
NM_001178057.2:c.394A>C	NP_001171528.1:p.Lys132Gln
NM_152830.3:c.394A>C	NP_690043.1:p.Lys132Gln
NM_001382700.1:c.1549A>C	NP_001369629.1:p.Lys517Gln
NM_001382701.1:c.1264A>C	NP_001369630.1:p.Lys422Gln
NM_001382702.1:c.46A>C	NP_001369631.1:p.Lys16Gln
NR_168483.1:n.416A>C