Canonical Allele Identifier: CA506095613

Gene: ANKLE1

Linked Data

• MyVariant Identifiers: chr19:g.17394155T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283346T>A , CM000681.2:g.17283346T>A	GRCh38
NC_000019.9:g.17394155T>A , CM000681.1:g.17394155T>A	GRCh37
NC_000019.8:g.17255155T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.582T>A MANE Select	ENSP00000384008.3:p.Pro194=
ENST00000404261.9:c.582T>A	ENSP00000384753.6:p.Pro194=
ENST00000594072.6:c.582T>A	ENSP00000468845.4:p.Pro194=
ENST00000651416.1:n.799T>A
ENST00000652132.1:c.549T>A	ENSP00000498416.1:p.Pro183=
ENST00000394458.7:c.744T>A	ENSP00000377971.4:p.Pro248=
ENST00000404085.5:c.*481T>A	ENSP00000384008.2:n.*481T>A
ENST00000404261.8:c.744T>A	ENSP00000384753.5:p.Pro248=
ENST00000594072.5:c.744T>A	ENSP00000468845.3:p.Pro248=
ENST00000596626.1:n.695T>A
ENST00000598347.2:c.584T>A
NM_001278443.1:c.711T>A	NP_001265372.1:p.Pro237=
NM_001278444.1:c.744T>A	NP_001265373.1:p.Pro248=
NM_001278445.1:c.648T>A	NP_001265374.1:p.Pro216=
NM_152363.5:c.744T>A	NP_689576.5:p.Pro248=
NR_103530.1:n.858T>A
NM_001278443.2:c.549T>A	NP_001265372.2:p.Pro183=
NM_001278444.2:c.582T>A	NP_001265373.2:p.Pro194=
NM_001278445.2:c.540T>A	NP_001265374.2:p.Pro180=
NM_152363.6:c.582T>A MANE Select	NP_689576.6:p.Pro194=
NR_103530.2:n.602T>A