Canonical Allele Identifier: CA470172292
Gene: VCL HGNC NCBI

Linked Data

ClinVar Variation Id: 3006858
ClinVar RCV Id: RCV003861473
MyVariant Identifiers: chr10:g.75848978C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.74089220C>T , CM000672.2:g.74089220C>T GRCh38
NC_000010.10:g.75848978C>T , CM000672.1:g.75848978C>T GRCh37
NC_000010.9:g.75518984C>T NCBI36
NG_008868.1:g.96107C>T , LRG_383:g.96107C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000211998.10:c.1047C>T MANE Select ENSP00000211998.5:p.Ala349=
ENST00000211998.8:c.1047C>T ENSP00000211998.4:p.Ala349=
ENST00000372755.7:c.1047C>T ENSP00000361841.3:p.Ala349=
ENST00000436396.1:c.63C>T ENSP00000415489.1:p.Ala21=
ENST00000478896.2:n.332-11834C>T
ENST00000623461.3:n.3850C>T
ENST00000624354.3:c.*802C>T ENSP00000485551.1:n.*802C>T
NM_003373.3:c.1047C>T NP_003364.1:p.Ala349=
NM_014000.2:c.1047C>T , LRG_383t1:c.1047C>T NP_054706.1:p.Ala349=
XM_005270142.1:c.1050C>T XP_005270199.1:p.Ala350=
XM_005270143.1:c.1050C>T XP_005270200.1:p.Ala350=
XR_001747501.1:n.89+712G>A
NM_003373.4:c.1047C>T NP_003364.1:p.Ala349=
NM_014000.3:c.1047C>T MANE Select NP_054706.1:p.Ala349=