Canonical Allele Identifier: CA404744767

Gene: ANKLE1

Linked Data

• MyVariant Identifiers: chr19:g.17394133A>G (hg19) ; chr19:g.17283324A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283324A>G , CM000681.2:g.17283324A>G	GRCh38
NC_000019.9:g.17394133A>G , CM000681.1:g.17394133A>G	GRCh37
NC_000019.8:g.17255133A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000404085.7:c.560A>G MANE Select	ENSP00000384008.3:p.Asp187Gly
ENST00000404261.9:c.560A>G	ENSP00000384753.6:p.Asp187Gly
ENST00000594072.6:c.560A>G	ENSP00000468845.4:p.Asp187Gly
ENST00000651416.1:n.777A>G
ENST00000652132.1:c.527A>G	ENSP00000498416.1:p.Asp176Gly
ENST00000394458.7:c.722A>G	ENSP00000377971.4:p.Asp241Gly
ENST00000404085.5:c.*459A>G	ENSP00000384008.2:n.*459A>G
ENST00000404261.8:c.722A>G	ENSP00000384753.5:p.Asp241Gly
ENST00000594072.5:c.722A>G	ENSP00000468845.3:p.Asp241Gly
ENST00000596626.1:n.673A>G
ENST00000598347.2:c.562A>G
NM_001278443.1:c.689A>G	NP_001265372.1:p.Asp230Gly
NM_001278444.1:c.722A>G	NP_001265373.1:p.Asp241Gly
NM_001278445.1:c.626A>G	NP_001265374.1:p.Asp209Gly
NM_152363.5:c.722A>G	NP_689576.5:p.Asp241Gly
NR_103530.1:n.836A>G
NM_001278443.2:c.527A>G	NP_001265372.2:p.Asp176Gly
NM_001278444.2:c.560A>G	NP_001265373.2:p.Asp187Gly
NM_001278445.2:c.518A>G	NP_001265374.2:p.Asp173Gly
NM_152363.6:c.560A>G MANE Select	NP_689576.6:p.Asp187Gly
NR_103530.2:n.580A>G