Canonical Allele Identifier: CA2325780461

Gene: ANKLE1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283309T= , CM000681.2:g.17283309T=	GRCh38
NC_000019.9:g.17394118T= , CM000681.1:g.17394118T=	GRCh37
NC_000019.8:g.17255118T=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.545T= MANE Select	ENSP00000384008.3:p.Ile182=
ENST00000404261.9:c.545T=	ENSP00000384753.6:p.Ile182=
ENST00000594072.6:c.545T=	ENSP00000468845.4:p.Ile182=
ENST00000651416.1:n.762T=
ENST00000652132.1:c.512T=	ENSP00000498416.1:p.Ile171=
ENST00000394458.7:c.707T=	ENSP00000377971.4:p.Ile236=
ENST00000404085.5:c.*444T=	ENSP00000384008.2:n.*444T=
ENST00000404261.8:c.707T=	ENSP00000384753.5:p.Ile236=
ENST00000594072.5:c.707T=	ENSP00000468845.3:p.Ile236=
ENST00000596626.1:n.658T=
ENST00000598347.2:c.547T=
NM_001278443.1:c.674T=	NP_001265372.1:p.Ile225=
NM_001278444.1:c.707T=	NP_001265373.1:p.Ile236=
NM_001278445.1:c.611T=	NP_001265374.1:p.Ile204=
NM_152363.5:c.707T=	NP_689576.5:p.Ile236=
NR_103530.1:n.821T=
NM_001278443.2:c.512T=	NP_001265372.2:p.Ile171=
NM_001278444.2:c.545T=	NP_001265373.2:p.Ile182=
NM_001278445.2:c.503T=	NP_001265374.2:p.Ile168=
NM_152363.6:c.545T= MANE Select	NP_689576.6:p.Ile182=
NR_103530.2:n.565T=