Canonical Allele Identifier: CA404744765

Gene: ANKLE1

Linked Data

• MyVariant Identifiers: chr19:g.17394132G>T (hg19) ; chr19:g.17283323G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283323G>T , CM000681.2:g.17283323G>T	GRCh38
NC_000019.9:g.17394132G>T , CM000681.1:g.17394132G>T	GRCh37
NC_000019.8:g.17255132G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000404085.7:c.559G>T MANE Select	ENSP00000384008.3:p.Asp187Tyr
ENST00000404261.9:c.559G>T	ENSP00000384753.6:p.Asp187Tyr
ENST00000594072.6:c.559G>T	ENSP00000468845.4:p.Asp187Tyr
ENST00000651416.1:n.776G>T
ENST00000652132.1:c.526G>T	ENSP00000498416.1:p.Asp176Tyr
ENST00000394458.7:c.721G>T	ENSP00000377971.4:p.Asp241Tyr
ENST00000404085.5:c.*458G>T	ENSP00000384008.2:n.*458G>T
ENST00000404261.8:c.721G>T	ENSP00000384753.5:p.Asp241Tyr
ENST00000594072.5:c.721G>T	ENSP00000468845.3:p.Asp241Tyr
ENST00000596626.1:n.672G>T
ENST00000598347.2:c.561G>T
NM_001278443.1:c.688G>T	NP_001265372.1:p.Asp230Tyr
NM_001278444.1:c.721G>T	NP_001265373.1:p.Asp241Tyr
NM_001278445.1:c.625G>T	NP_001265374.1:p.Asp209Tyr
NM_152363.5:c.721G>T	NP_689576.5:p.Asp241Tyr
NR_103530.1:n.835G>T
NM_001278443.2:c.526G>T	NP_001265372.2:p.Asp176Tyr
NM_001278444.2:c.559G>T	NP_001265373.2:p.Asp187Tyr
NM_001278445.2:c.517G>T	NP_001265374.2:p.Asp173Tyr
NM_152363.6:c.559G>T MANE Select	NP_689576.6:p.Asp187Tyr
NR_103530.2:n.579G>T