Canonical Allele Identifier: CA404744766

Gene: ANKLE1

Linked Data

• dbSNP Id: rs1599509972
• MyVariant Identifiers: chr19:g.17394133A>C (hg19) ; chr19:g.17283324A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.560A>C MANE Select	ENSP00000384008.3:p.Asp187Ala
ENST00000404261.9:c.560A>C	ENSP00000384753.6:p.Asp187Ala
ENST00000594072.6:c.560A>C	ENSP00000468845.4:p.Asp187Ala
ENST00000651416.1:n.777A>C
ENST00000652132.1:c.527A>C	ENSP00000498416.1:p.Asp176Ala
ENST00000394458.7:c.722A>C	ENSP00000377971.4:p.Asp241Ala
ENST00000404085.5:c.*459A>C	ENSP00000384008.2:n.*459A>C
ENST00000404261.8:c.722A>C	ENSP00000384753.5:p.Asp241Ala
ENST00000594072.5:c.722A>C	ENSP00000468845.3:p.Asp241Ala
ENST00000596626.1:n.673A>C
ENST00000598347.2:c.562A>C
NM_001278443.1:c.689A>C	NP_001265372.1:p.Asp230Ala
NM_001278444.1:c.722A>C	NP_001265373.1:p.Asp241Ala
NM_001278445.1:c.626A>C	NP_001265374.1:p.Asp209Ala
NM_152363.5:c.722A>C	NP_689576.5:p.Asp241Ala
NR_103530.1:n.836A>C
NM_001278443.2:c.527A>C	NP_001265372.2:p.Asp176Ala
NM_001278444.2:c.560A>C	NP_001265373.2:p.Asp187Ala
NM_001278445.2:c.518A>C	NP_001265374.2:p.Asp173Ala
NM_152363.6:c.560A>C MANE Select	NP_689576.6:p.Asp187Ala
NR_103530.2:n.580A>C