Canonical Allele Identifier: CA404744810

Gene: ANKLE1

Linked Data

• MyVariant Identifiers: chr19:g.17394156G>C (hg19) ; chr19:g.17283347G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283347G>C , CM000681.2:g.17283347G>C	GRCh38
NC_000019.9:g.17394156G>C , CM000681.1:g.17394156G>C	GRCh37
NC_000019.8:g.17255156G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.583G>C MANE Select	ENSP00000384008.3:p.Val195Leu
ENST00000404261.9:c.583G>C	ENSP00000384753.6:p.Val195Leu
ENST00000594072.6:c.583G>C	ENSP00000468845.4:p.Val195Leu
ENST00000651416.1:n.800G>C
ENST00000652132.1:c.550G>C	ENSP00000498416.1:p.Val184Leu
ENST00000394458.7:c.745G>C	ENSP00000377971.4:p.Val249Leu
ENST00000404085.5:c.*482G>C	ENSP00000384008.2:n.*482G>C
ENST00000404261.8:c.745G>C	ENSP00000384753.5:p.Val249Leu
ENST00000594072.5:c.745G>C	ENSP00000468845.3:p.Val249Leu
ENST00000596626.1:n.696G>C
ENST00000598347.2:c.585G>C
NM_001278443.1:c.712G>C	NP_001265372.1:p.Val238Leu
NM_001278444.1:c.745G>C	NP_001265373.1:p.Val249Leu
NM_001278445.1:c.649G>C	NP_001265374.1:p.Val217Leu
NM_152363.5:c.745G>C	NP_689576.5:p.Val249Leu
NR_103530.1:n.859G>C
NM_001278443.2:c.550G>C	NP_001265372.2:p.Val184Leu
NM_001278444.2:c.583G>C	NP_001265373.2:p.Val195Leu
NM_001278445.2:c.541G>C	NP_001265374.2:p.Val181Leu
NM_152363.6:c.583G>C MANE Select	NP_689576.6:p.Val195Leu
NR_103530.2:n.603G>C