Canonical Allele Identifier: CA404744752

Gene: ANKLE1

Linked Data

• dbSNP Id: rs2073995382
• MyVariant Identifiers: chr19:g.17394126G>A (hg19) ; chr19:g.17283317G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000404085.7:c.553G>A MANE Select	ENSP00000384008.3:p.Glu185Lys
ENST00000404261.9:c.553G>A	ENSP00000384753.6:p.Glu185Lys
ENST00000594072.6:c.553G>A	ENSP00000468845.4:p.Glu185Lys
ENST00000651416.1:n.770G>A
ENST00000652132.1:c.520G>A	ENSP00000498416.1:p.Glu174Lys
ENST00000394458.7:c.715G>A	ENSP00000377971.4:p.Glu239Lys
ENST00000404085.5:c.*452G>A	ENSP00000384008.2:n.*452G>A
ENST00000404261.8:c.715G>A	ENSP00000384753.5:p.Glu239Lys
ENST00000594072.5:c.715G>A	ENSP00000468845.3:p.Glu239Lys
ENST00000596626.1:n.666G>A
ENST00000598347.2:c.555G>A
NM_001278443.1:c.682G>A	NP_001265372.1:p.Glu228Lys
NM_001278444.1:c.715G>A	NP_001265373.1:p.Glu239Lys
NM_001278445.1:c.619G>A	NP_001265374.1:p.Glu207Lys
NM_152363.5:c.715G>A	NP_689576.5:p.Glu239Lys
NR_103530.1:n.829G>A
NM_001278443.2:c.520G>A	NP_001265372.2:p.Glu174Lys
NM_001278444.2:c.553G>A	NP_001265373.2:p.Glu185Lys
NM_001278445.2:c.511G>A	NP_001265374.2:p.Glu171Lys
NM_152363.6:c.553G>A MANE Select	NP_689576.6:p.Glu185Lys
NR_103530.2:n.573G>A