Canonical Allele Identifier: CA404744739

Gene: ANKLE1

Linked Data

• MyVariant Identifiers: chr19:g.17394118T>G (hg19) ; chr19:g.17283309T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283309T>G , CM000681.2:g.17283309T>G	GRCh38
NC_000019.9:g.17394118T>G , CM000681.1:g.17394118T>G	GRCh37
NC_000019.8:g.17255118T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.545T>G MANE Select	ENSP00000384008.3:p.Ile182Ser
ENST00000404261.9:c.545T>G	ENSP00000384753.6:p.Ile182Ser
ENST00000594072.6:c.545T>G	ENSP00000468845.4:p.Ile182Ser
ENST00000651416.1:n.762T>G
ENST00000652132.1:c.512T>G	ENSP00000498416.1:p.Ile171Ser
ENST00000394458.7:c.707T>G	ENSP00000377971.4:p.Ile236Ser
ENST00000404085.5:c.*444T>G	ENSP00000384008.2:n.*444T>G
ENST00000404261.8:c.707T>G	ENSP00000384753.5:p.Ile236Ser
ENST00000594072.5:c.707T>G	ENSP00000468845.3:p.Ile236Ser
ENST00000596626.1:n.658T>G
ENST00000598347.2:c.547T>G
NM_001278443.1:c.674T>G	NP_001265372.1:p.Ile225Ser
NM_001278444.1:c.707T>G	NP_001265373.1:p.Ile236Ser
NM_001278445.1:c.611T>G	NP_001265374.1:p.Ile204Ser
NM_152363.5:c.707T>G	NP_689576.5:p.Ile236Ser
NR_103530.1:n.821T>G
NM_001278443.2:c.512T>G	NP_001265372.2:p.Ile171Ser
NM_001278444.2:c.545T>G	NP_001265373.2:p.Ile182Ser
NM_001278445.2:c.503T>G	NP_001265374.2:p.Ile168Ser
NM_152363.6:c.545T>G MANE Select	NP_689576.6:p.Ile182Ser
NR_103530.2:n.565T>G