Canonical Allele Identifier: CA404744781

Gene: ANKLE1

Linked Data

• dbSNP Id: rs1306820278
• gnomAD v2: 19-17394141-C-G
• gnomAD v4: 19-17283332-C-G
• MyVariant Identifiers: chr19:g.17394141C>G (hg19) ; chr19:g.17283332C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283332C>G , CM000681.2:g.17283332C>G	GRCh38
NC_000019.9:g.17394141C>G , CM000681.1:g.17394141C>G	GRCh37
NC_000019.8:g.17255141C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.568C>G MANE Select	ENSP00000384008.3:p.Pro190Ala
ENST00000404261.9:c.568C>G	ENSP00000384753.6:p.Pro190Ala
ENST00000594072.6:c.568C>G	ENSP00000468845.4:p.Pro190Ala
ENST00000651416.1:n.785C>G
ENST00000652132.1:c.535C>G	ENSP00000498416.1:p.Pro179Ala
ENST00000394458.7:c.730C>G	ENSP00000377971.4:p.Pro244Ala
ENST00000404085.5:c.*467C>G	ENSP00000384008.2:n.*467C>G
ENST00000404261.8:c.730C>G	ENSP00000384753.5:p.Pro244Ala
ENST00000594072.5:c.730C>G	ENSP00000468845.3:p.Pro244Ala
ENST00000596626.1:n.681C>G
ENST00000598347.2:c.570C>G
NM_001278443.1:c.697C>G	NP_001265372.1:p.Pro233Ala
NM_001278444.1:c.730C>G	NP_001265373.1:p.Pro244Ala
NM_001278445.1:c.634C>G	NP_001265374.1:p.Pro212Ala
NM_152363.5:c.730C>G	NP_689576.5:p.Pro244Ala
NR_103530.1:n.844C>G
NM_001278443.2:c.535C>G	NP_001265372.2:p.Pro179Ala
NM_001278444.2:c.568C>G	NP_001265373.2:p.Pro190Ala
NM_001278445.2:c.526C>G	NP_001265374.2:p.Pro176Ala
NM_152363.6:c.568C>G MANE Select	NP_689576.6:p.Pro190Ala
NR_103530.2:n.588C>G