Canonical Allele Identifier: CA5563121
Gene: VCL HGNC NCBI

Linked Data

ClinVar Variation Id: 487627
dbSNP Id: rs150643310

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.74101003C>T , CM000672.2:g.74101003C>T GRCh38
NC_000010.10:g.75860761C>T , CM000672.1:g.75860761C>T GRCh37
NC_000010.9:g.75530767C>T NCBI36
NG_008868.1:g.107890C>T , LRG_383:g.107890C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000211998.10:c.1928C>T MANE Select ENSP00000211998.5:p.Thr643Met
ENST00000211998.8:c.1928C>T ENSP00000211998.4:p.Thr643Met
ENST00000372755.7:c.1928C>T ENSP00000361841.3:p.Thr643Met
ENST00000436396.1:c.944C>T ENSP00000415489.1:p.Thr315Met
ENST00000478896.2:n.332-51C>T
ENST00000623461.3:n.4731C>T
ENST00000624354.3:c.*1683C>T ENSP00000485551.1:n.*1683C>T
NM_003373.3:c.1928C>T NP_003364.1:p.Thr643Met
NM_014000.2:c.1928C>T , LRG_383t1:c.1928C>T NP_054706.1:p.Thr643Met
XM_005270142.1:c.1931C>T XP_005270199.1:p.Thr644Met
XM_005270143.1:c.1931C>T XP_005270200.1:p.Thr644Met
NM_003373.4:c.1928C>T NP_003364.1:p.Thr643Met
NM_014000.3:c.1928C>T MANE Select NP_054706.1:p.Thr643Met