Canonical Allele Identifier: CA404744815

Gene: ANKLE1

Linked Data

• MyVariant Identifiers: chr19:g.17394159C>G (hg19) ; chr19:g.17283350C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283350C>G , CM000681.2:g.17283350C>G	GRCh38
NC_000019.9:g.17394159C>G , CM000681.1:g.17394159C>G	GRCh37
NC_000019.8:g.17255159C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.586C>G MANE Select	ENSP00000384008.3:p.Pro196Ala
ENST00000404261.9:c.586C>G	ENSP00000384753.6:p.Pro196Ala
ENST00000594072.6:c.586C>G	ENSP00000468845.4:p.Pro196Ala
ENST00000651416.1:n.803C>G
ENST00000652132.1:c.553C>G	ENSP00000498416.1:p.Pro185Ala
ENST00000394458.7:c.748C>G	ENSP00000377971.4:p.Pro250Ala
ENST00000404085.5:c.*485C>G	ENSP00000384008.2:n.*485C>G
ENST00000404261.8:c.748C>G	ENSP00000384753.5:p.Pro250Ala
ENST00000594072.5:c.748C>G	ENSP00000468845.3:p.Pro250Ala
ENST00000596626.1:n.699C>G
ENST00000598347.2:c.588C>G
NM_001278443.1:c.715C>G	NP_001265372.1:p.Pro239Ala
NM_001278444.1:c.748C>G	NP_001265373.1:p.Pro250Ala
NM_001278445.1:c.652C>G	NP_001265374.1:p.Pro218Ala
NM_152363.5:c.748C>G	NP_689576.5:p.Pro250Ala
NR_103530.1:n.862C>G
NM_001278443.2:c.553C>G	NP_001265372.2:p.Pro185Ala
NM_001278444.2:c.586C>G	NP_001265373.2:p.Pro196Ala
NM_001278445.2:c.544C>G	NP_001265374.2:p.Pro182Ala
NM_152363.6:c.586C>G MANE Select	NP_689576.6:p.Pro196Ala
NR_103530.2:n.606C>G