Canonical Allele Identifier: CA506095625

Gene: ANKLE1

Linked Data

• MyVariant Identifiers: chr19:g.17394161C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283352C>A , CM000681.2:g.17283352C>A	GRCh38
NC_000019.9:g.17394161C>A , CM000681.1:g.17394161C>A	GRCh37
NC_000019.8:g.17255161C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.588C>A MANE Select	ENSP00000384008.3:p.Pro196=
ENST00000404261.9:c.588C>A	ENSP00000384753.6:p.Pro196=
ENST00000594072.6:c.588C>A	ENSP00000468845.4:p.Pro196=
ENST00000651416.1:n.805C>A
ENST00000652132.1:c.555C>A	ENSP00000498416.1:p.Pro185=
ENST00000394458.7:c.750C>A	ENSP00000377971.4:p.Pro250=
ENST00000404085.5:c.*487C>A	ENSP00000384008.2:n.*487C>A
ENST00000404261.8:c.750C>A	ENSP00000384753.5:p.Pro250=
ENST00000594072.5:c.750C>A	ENSP00000468845.3:p.Pro250=
ENST00000596626.1:n.701C>A
ENST00000598347.2:c.590C>A
NM_001278443.1:c.717C>A	NP_001265372.1:p.Pro239=
NM_001278444.1:c.750C>A	NP_001265373.1:p.Pro250=
NM_001278445.1:c.654C>A	NP_001265374.1:p.Pro218=
NM_152363.5:c.750C>A	NP_689576.5:p.Pro250=
NR_103530.1:n.864C>A
NM_001278443.2:c.555C>A	NP_001265372.2:p.Pro185=
NM_001278444.2:c.588C>A	NP_001265373.2:p.Pro196=
NM_001278445.2:c.546C>A	NP_001265374.2:p.Pro182=
NM_152363.6:c.588C>A MANE Select	NP_689576.6:p.Pro196=
NR_103530.2:n.608C>A