Canonical Allele Identifier: CA404744772

Gene: ANKLE1

Linked Data

• MyVariant Identifiers: chr19:g.17394135C>G (hg19) ; chr19:g.17283326C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283326C>G , CM000681.2:g.17283326C>G	GRCh38
NC_000019.9:g.17394135C>G , CM000681.1:g.17394135C>G	GRCh37
NC_000019.8:g.17255135C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000404085.7:c.562C>G MANE Select	ENSP00000384008.3:p.Pro188Ala
ENST00000404261.9:c.562C>G	ENSP00000384753.6:p.Pro188Ala
ENST00000594072.6:c.562C>G	ENSP00000468845.4:p.Pro188Ala
ENST00000651416.1:n.779C>G
ENST00000652132.1:c.529C>G	ENSP00000498416.1:p.Pro177Ala
ENST00000394458.7:c.724C>G	ENSP00000377971.4:p.Pro242Ala
ENST00000404085.5:c.*461C>G	ENSP00000384008.2:n.*461C>G
ENST00000404261.8:c.724C>G	ENSP00000384753.5:p.Pro242Ala
ENST00000594072.5:c.724C>G	ENSP00000468845.3:p.Pro242Ala
ENST00000596626.1:n.675C>G
ENST00000598347.2:c.564C>G
NM_001278443.1:c.691C>G	NP_001265372.1:p.Pro231Ala
NM_001278444.1:c.724C>G	NP_001265373.1:p.Pro242Ala
NM_001278445.1:c.628C>G	NP_001265374.1:p.Pro210Ala
NM_152363.5:c.724C>G	NP_689576.5:p.Pro242Ala
NR_103530.1:n.838C>G
NM_001278443.2:c.529C>G	NP_001265372.2:p.Pro177Ala
NM_001278444.2:c.562C>G	NP_001265373.2:p.Pro188Ala
NM_001278445.2:c.520C>G	NP_001265374.2:p.Pro174Ala
NM_152363.6:c.562C>G MANE Select	NP_689576.6:p.Pro188Ala
NR_103530.2:n.582C>G