Canonical Allele Identifier: CA404744655

Gene: ANKLE1

Linked Data

• MyVariant Identifiers: chr19:g.17394082T>C (hg19) ; chr19:g.17283273T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283273T>C , CM000681.2:g.17283273T>C	GRCh38
NC_000019.9:g.17394082T>C , CM000681.1:g.17394082T>C	GRCh37
NC_000019.8:g.17255082T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.509T>C MANE Select	ENSP00000384008.3:p.Leu170Pro
ENST00000404261.9:c.509T>C	ENSP00000384753.6:p.Leu170Pro
ENST00000594072.6:c.509T>C	ENSP00000468845.4:p.Leu170Pro
ENST00000651416.1:n.726T>C
ENST00000652132.1:c.476T>C	ENSP00000498416.1:p.Leu159Pro
ENST00000394458.7:c.671T>C	ENSP00000377971.4:p.Leu224Pro
ENST00000404085.5:c.*408T>C	ENSP00000384008.2:n.*408T>C
ENST00000404261.8:c.671T>C	ENSP00000384753.5:p.Leu224Pro
ENST00000594072.5:c.671T>C	ENSP00000468845.3:p.Leu224Pro
ENST00000596626.1:n.622T>C
ENST00000598347.2:c.511T>C
NM_001278443.1:c.638T>C	NP_001265372.1:p.Leu213Pro
NM_001278444.1:c.671T>C	NP_001265373.1:p.Leu224Pro
NM_001278445.1:c.575T>C	NP_001265374.1:p.Leu192Pro
NM_152363.5:c.671T>C	NP_689576.5:p.Leu224Pro
NR_103530.1:n.785T>C
NM_001278443.2:c.476T>C	NP_001265372.2:p.Leu159Pro
NM_001278444.2:c.509T>C	NP_001265373.2:p.Leu170Pro
NM_001278445.2:c.467T>C	NP_001265374.2:p.Leu156Pro
NM_152363.6:c.509T>C MANE Select	NP_689576.6:p.Leu170Pro
NR_103530.2:n.529T>C