Canonical Allele Identifier: CA9291131

Gene: ANKLE1

Linked Data

• dbSNP Id: rs768491480
• ExAC: 19:17394125 G / T
• gnomAD v2: 19-17394125-G-T
• gnomAD v4: 19-17283316-G-T
• MyVariant Identifiers: chr19:g.17394125G>T (hg19) ; chr19:g.17283316G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283316G>T , CM000681.2:g.17283316G>T	GRCh38
NC_000019.9:g.17394125G>T , CM000681.1:g.17394125G>T	GRCh37
NC_000019.8:g.17255125G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000404085.7:c.552G>T MANE Select	ENSP00000384008.3:p.Leu184Phe
ENST00000404261.9:c.552G>T	ENSP00000384753.6:p.Leu184Phe
ENST00000594072.6:c.552G>T	ENSP00000468845.4:p.Leu184Phe
ENST00000651416.1:n.769G>T
ENST00000652132.1:c.519G>T	ENSP00000498416.1:p.Leu173Phe
ENST00000394458.7:c.714G>T	ENSP00000377971.4:p.Leu238Phe
ENST00000404085.5:c.*451G>T	ENSP00000384008.2:n.*451G>T
ENST00000404261.8:c.714G>T	ENSP00000384753.5:p.Leu238Phe
ENST00000594072.5:c.714G>T	ENSP00000468845.3:p.Leu238Phe
ENST00000596626.1:n.665G>T
ENST00000598347.2:c.554G>T
NM_001278443.1:c.681G>T	NP_001265372.1:p.Leu227Phe
NM_001278444.1:c.714G>T	NP_001265373.1:p.Leu238Phe
NM_001278445.1:c.618G>T	NP_001265374.1:p.Leu206Phe
NM_152363.5:c.714G>T	NP_689576.5:p.Leu238Phe
NR_103530.1:n.828G>T
NM_001278443.2:c.519G>T	NP_001265372.2:p.Leu173Phe
NM_001278444.2:c.552G>T	NP_001265373.2:p.Leu184Phe
NM_001278445.2:c.510G>T	NP_001265374.2:p.Leu170Phe
NM_152363.6:c.552G>T MANE Select	NP_689576.6:p.Leu184Phe
NR_103530.2:n.572G>T