Canonical Allele Identifier: CA404744784

Gene: ANKLE1

Linked Data

• dbSNP Id: rs2073995793
• gnomAD v4: 19-17283333-C-T
• MyVariant Identifiers: chr19:g.17394142C>T (hg19) ; chr19:g.17283333C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283333C>T , CM000681.2:g.17283333C>T	GRCh38
NC_000019.9:g.17394142C>T , CM000681.1:g.17394142C>T	GRCh37
NC_000019.8:g.17255142C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.569C>T MANE Select	ENSP00000384008.3:p.Pro190Leu
ENST00000404261.9:c.569C>T	ENSP00000384753.6:p.Pro190Leu
ENST00000594072.6:c.569C>T	ENSP00000468845.4:p.Pro190Leu
ENST00000651416.1:n.786C>T
ENST00000652132.1:c.536C>T	ENSP00000498416.1:p.Pro179Leu
ENST00000394458.7:c.731C>T	ENSP00000377971.4:p.Pro244Leu
ENST00000404085.5:c.*468C>T	ENSP00000384008.2:n.*468C>T
ENST00000404261.8:c.731C>T	ENSP00000384753.5:p.Pro244Leu
ENST00000594072.5:c.731C>T	ENSP00000468845.3:p.Pro244Leu
ENST00000596626.1:n.682C>T
ENST00000598347.2:c.571C>T
NM_001278443.1:c.698C>T	NP_001265372.1:p.Pro233Leu
NM_001278444.1:c.731C>T	NP_001265373.1:p.Pro244Leu
NM_001278445.1:c.635C>T	NP_001265374.1:p.Pro212Leu
NM_152363.5:c.731C>T	NP_689576.5:p.Pro244Leu
NR_103530.1:n.845C>T
NM_001278443.2:c.536C>T	NP_001265372.2:p.Pro179Leu
NM_001278444.2:c.569C>T	NP_001265373.2:p.Pro190Leu
NM_001278445.2:c.527C>T	NP_001265374.2:p.Pro176Leu
NM_152363.6:c.569C>T MANE Select	NP_689576.6:p.Pro190Leu
NR_103530.2:n.589C>T