Canonical Allele Identifier: CA414930283

Gene: VBP1

Linked Data

• ClinVar Variation Id: 487792
• ClinVar RCV Id: RCV000577833
• dbSNP Id: rs1000821034
• MyVariant Identifiers: chrX:g.154456711C>A (hg19) ; chrX:g.155228429C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.155228429C>A , CM000685.2:g.155228429C>A	GRCh38
NC_000023.10:g.154456711C>A , CM000685.1:g.154456711C>A	GRCh37
NC_000023.9:g.154109905C>A	NCBI36
NG_013269.2:g.36423C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286428.7:c.331C>A MANE Select	ENSP00000286428.5:p.Leu111Met
ENST00000286428.5:c.331C>A	ENSP00000286428.5:p.Leu111Met
ENST00000460509.1:n.204C>A
ENST00000535916.5:c.316C>A	ENSP00000438694.1:p.Leu106Met
ENST00000625964.2:c.316C>A	ENSP00000486053.1:p.Leu106Met
NM_001303543.1:c.439C>A	NP_001290472.1:p.Leu147Met
NM_001303544.1:c.316C>A	NP_001290473.1:p.Leu106Met
NM_001303545.1:c.220C>A	NP_001290474.1:p.Leu74Met
NM_003372.6:c.331C>A	NP_003363.1:p.Leu111Met
NM_003372.7:c.331C>A MANE Select	NP_003363.1:p.Leu111Met