Canonical Allele Identifier: CA404744753

Gene: ANKLE1

Linked Data

• MyVariant Identifiers: chr19:g.17394126G>C (hg19) ; chr19:g.17283317G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283317G>C , CM000681.2:g.17283317G>C	GRCh38
NC_000019.9:g.17394126G>C , CM000681.1:g.17394126G>C	GRCh37
NC_000019.8:g.17255126G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000404085.7:c.553G>C MANE Select	ENSP00000384008.3:p.Glu185Gln
ENST00000404261.9:c.553G>C	ENSP00000384753.6:p.Glu185Gln
ENST00000594072.6:c.553G>C	ENSP00000468845.4:p.Glu185Gln
ENST00000651416.1:n.770G>C
ENST00000652132.1:c.520G>C	ENSP00000498416.1:p.Glu174Gln
ENST00000394458.7:c.715G>C	ENSP00000377971.4:p.Glu239Gln
ENST00000404085.5:c.*452G>C	ENSP00000384008.2:n.*452G>C
ENST00000404261.8:c.715G>C	ENSP00000384753.5:p.Glu239Gln
ENST00000594072.5:c.715G>C	ENSP00000468845.3:p.Glu239Gln
ENST00000596626.1:n.666G>C
ENST00000598347.2:c.555G>C
NM_001278443.1:c.682G>C	NP_001265372.1:p.Glu228Gln
NM_001278444.1:c.715G>C	NP_001265373.1:p.Glu239Gln
NM_001278445.1:c.619G>C	NP_001265374.1:p.Glu207Gln
NM_152363.5:c.715G>C	NP_689576.5:p.Glu239Gln
NR_103530.1:n.829G>C
NM_001278443.2:c.520G>C	NP_001265372.2:p.Glu174Gln
NM_001278444.2:c.553G>C	NP_001265373.2:p.Glu185Gln
NM_001278445.2:c.511G>C	NP_001265374.2:p.Glu171Gln
NM_152363.6:c.553G>C MANE Select	NP_689576.6:p.Glu185Gln
NR_103530.2:n.573G>C