Canonical Allele Identifier: CA9291139

Gene: ANKLE1

Linked Data

• dbSNP Id: rs753512382
• ExAC: 19:17394143 C / T
• gnomAD v2: 19-17394143-C-T
• gnomAD v4: 19-17283334-C-T
• MyVariant Identifiers: chr19:g.17394143C>T (hg19) ; chr19:g.17283334C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283334C>T , CM000681.2:g.17283334C>T	GRCh38
NC_000019.9:g.17394143C>T , CM000681.1:g.17394143C>T	GRCh37
NC_000019.8:g.17255143C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.570C>T MANE Select	ENSP00000384008.3:p.Pro190=
ENST00000404261.9:c.570C>T	ENSP00000384753.6:p.Pro190=
ENST00000594072.6:c.570C>T	ENSP00000468845.4:p.Pro190=
ENST00000651416.1:n.787C>T
ENST00000652132.1:c.537C>T	ENSP00000498416.1:p.Pro179=
ENST00000394458.7:c.732C>T	ENSP00000377971.4:p.Pro244=
ENST00000404085.5:c.*469C>T	ENSP00000384008.2:n.*469C>T
ENST00000404261.8:c.732C>T	ENSP00000384753.5:p.Pro244=
ENST00000594072.5:c.732C>T	ENSP00000468845.3:p.Pro244=
ENST00000596626.1:n.683C>T
ENST00000598347.2:c.572C>T
NM_001278443.1:c.699C>T	NP_001265372.1:p.Pro233=
NM_001278444.1:c.732C>T	NP_001265373.1:p.Pro244=
NM_001278445.1:c.636C>T	NP_001265374.1:p.Pro212=
NM_152363.5:c.732C>T	NP_689576.5:p.Pro244=
NR_103530.1:n.846C>T
NM_001278443.2:c.537C>T	NP_001265372.2:p.Pro179=
NM_001278444.2:c.570C>T	NP_001265373.2:p.Pro190=
NM_001278445.2:c.528C>T	NP_001265374.2:p.Pro176=
NM_152363.6:c.570C>T MANE Select	NP_689576.6:p.Pro190=
NR_103530.2:n.590C>T