Canonical Allele Identifier: CA2325780484

Gene: ANKLE1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283341C= , CM000681.2:g.17283341C=	GRCh38
NC_000019.9:g.17394150C= , CM000681.1:g.17394150C=	GRCh37
NC_000019.8:g.17255150C=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.577C= MANE Select	ENSP00000384008.3:p.Leu193=
ENST00000404261.9:c.577C=	ENSP00000384753.6:p.Leu193=
ENST00000594072.6:c.577C=	ENSP00000468845.4:p.Leu193=
ENST00000651416.1:n.794C=
ENST00000652132.1:c.544C=	ENSP00000498416.1:p.Leu182=
ENST00000394458.7:c.739C=	ENSP00000377971.4:p.Leu247=
ENST00000404085.5:c.*476C=	ENSP00000384008.2:n.*476C=
ENST00000404261.8:c.739C=	ENSP00000384753.5:p.Leu247=
ENST00000594072.5:c.739C=	ENSP00000468845.3:p.Leu247=
ENST00000596626.1:n.690C=
ENST00000598347.2:c.579C=
NM_001278443.1:c.706C=	NP_001265372.1:p.Leu236=
NM_001278444.1:c.739C=	NP_001265373.1:p.Leu247=
NM_001278445.1:c.643C=	NP_001265374.1:p.Leu215=
NM_152363.5:c.739C=	NP_689576.5:p.Leu247=
NR_103530.1:n.853C=
NM_001278443.2:c.544C=	NP_001265372.2:p.Leu182=
NM_001278444.2:c.577C=	NP_001265373.2:p.Leu193=
NM_001278445.2:c.535C=	NP_001265374.2:p.Leu179=
NM_152363.6:c.577C= MANE Select	NP_689576.6:p.Leu193=
NR_103530.2:n.597C=