Canonical Allele Identifier: CA470171006
Gene: VCL HGNC NCBI

Linked Data

ClinVar Variation Id: 1627646
ClinVar RCV Id: RCV002123139
dbSNP Id: rs2136280262
MyVariant Identifiers: chr10:g.75842229G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.74082471G>A , CM000672.2:g.74082471G>A GRCh38
NC_000010.10:g.75842229G>A , CM000672.1:g.75842229G>A GRCh37
NC_000010.9:g.75512235G>A NCBI36
NG_008868.1:g.89358G>A , LRG_383:g.89358G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000211998.10:c.801G>A MANE Select ENSP00000211998.5:p.Lys267=
ENST00000211998.8:c.801G>A ENSP00000211998.4:p.Lys267=
ENST00000372755.7:c.801G>A ENSP00000361841.3:p.Lys267=
ENST00000478896.2:n.332-18583G>A
ENST00000623461.3:n.3604G>A
ENST00000624354.3:c.*556G>A ENSP00000485551.1:n.*556G>A
NM_003373.3:c.801G>A NP_003364.1:p.Lys267=
NM_014000.2:c.801G>A , LRG_383t1:c.801G>A NP_054706.1:p.Lys267=
XM_005270142.1:c.804G>A XP_005270199.1:p.Lys268=
XM_005270143.1:c.804G>A XP_005270200.1:p.Lys268=
XR_001747501.1:n.90-4744C>T
NM_003373.4:c.801G>A NP_003364.1:p.Lys267=
NM_014000.3:c.801G>A MANE Select NP_054706.1:p.Lys267=