Canonical Allele Identifier: CA2325780505

Gene: ANKLE1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283384C= , CM000681.2:g.17283384C=	GRCh38
NC_000019.9:g.17394193C= , CM000681.1:g.17394193C=	GRCh37
NC_000019.8:g.17255193C=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.620C= MANE Select	ENSP00000384008.3:p.Ala207=
ENST00000404261.9:c.620C=	ENSP00000384753.6:p.Ala207=
ENST00000594072.6:c.620C=	ENSP00000468845.4:p.Ala207=
ENST00000651416.1:n.837C=
ENST00000652132.1:c.587C=	ENSP00000498416.1:p.Ala196=
ENST00000394458.7:c.782C=	ENSP00000377971.4:p.Ala261=
ENST00000404085.5:c.*519C=	ENSP00000384008.2:n.*519C=
ENST00000404261.8:c.782C=	ENSP00000384753.5:p.Ala261=
ENST00000594072.5:c.782C=	ENSP00000468845.3:p.Ala261=
ENST00000596626.1:n.733C=
ENST00000598347.2:c.622C=
NM_001278443.1:c.749C=	NP_001265372.1:p.Ala250=
NM_001278444.1:c.782C=	NP_001265373.1:p.Ala261=
NM_001278445.1:c.686C=	NP_001265374.1:p.Ala229=
NM_152363.5:c.782C=	NP_689576.5:p.Ala261=
NR_103530.1:n.896C=
NM_001278443.2:c.587C=	NP_001265372.2:p.Ala196=
NM_001278444.2:c.620C=	NP_001265373.2:p.Ala207=
NM_001278445.2:c.578C=	NP_001265374.2:p.Ala193=
NM_152363.6:c.620C= MANE Select	NP_689576.6:p.Ala207=
NR_103530.2:n.640C=