Canonical Allele Identifier: CA404744800

Gene: ANKLE1

Linked Data

• dbSNP Id: rs1336659703
• MyVariant Identifiers: chr19:g.17394150C>T (hg19) ; chr19:g.17283341C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.577C>T MANE Select	ENSP00000384008.3:p.Leu193Phe
ENST00000404261.9:c.577C>T	ENSP00000384753.6:p.Leu193Phe
ENST00000594072.6:c.577C>T	ENSP00000468845.4:p.Leu193Phe
ENST00000651416.1:n.794C>T
ENST00000652132.1:c.544C>T	ENSP00000498416.1:p.Leu182Phe
ENST00000394458.7:c.739C>T	ENSP00000377971.4:p.Leu247Phe
ENST00000404085.5:c.*476C>T	ENSP00000384008.2:n.*476C>T
ENST00000404261.8:c.739C>T	ENSP00000384753.5:p.Leu247Phe
ENST00000594072.5:c.739C>T	ENSP00000468845.3:p.Leu247Phe
ENST00000596626.1:n.690C>T
ENST00000598347.2:c.579C>T
NM_001278443.1:c.706C>T	NP_001265372.1:p.Leu236Phe
NM_001278444.1:c.739C>T	NP_001265373.1:p.Leu247Phe
NM_001278445.1:c.643C>T	NP_001265374.1:p.Leu215Phe
NM_152363.5:c.739C>T	NP_689576.5:p.Leu247Phe
NR_103530.1:n.853C>T
NM_001278443.2:c.544C>T	NP_001265372.2:p.Leu182Phe
NM_001278444.2:c.577C>T	NP_001265373.2:p.Leu193Phe
NM_001278445.2:c.535C>T	NP_001265374.2:p.Leu179Phe
NM_152363.6:c.577C>T MANE Select	NP_689576.6:p.Leu193Phe
NR_103530.2:n.597C>T