Canonical Allele Identifier: CA377266636
Gene: VCL HGNC NCBI

Linked Data

ClinVar Variation Id: 2913496
ClinVar RCV Id: RCV003624985

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.74071045T>C , CM000672.2:g.74071045T>C GRCh38
NC_000010.10:g.75830803T>C , CM000672.1:g.75830803T>C GRCh37
NC_000010.9:g.75500809T>C NCBI36
NG_008868.1:g.77932T>C , LRG_383:g.77932T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000211998.10:c.461T>C MANE Select ENSP00000211998.5:p.Met154Thr
ENST00000211998.8:c.461T>C ENSP00000211998.4:p.Met154Thr
ENST00000372755.7:c.461T>C ENSP00000361841.3:p.Met154Thr
ENST00000478896.2:n.331+27892T>C
ENST00000623461.3:n.419T>C
ENST00000624354.3:c.*216T>C ENSP00000485551.1:n.*216T>C
NM_003373.3:c.461T>C NP_003364.1:p.Met154Thr
NM_014000.2:c.461T>C , LRG_383t1:c.461T>C NP_054706.1:p.Met154Thr
XM_005270142.1:c.461T>C XP_005270199.1:p.Met154Thr
XM_005270143.1:c.461T>C XP_005270200.1:p.Met154Thr
NM_003373.4:c.461T>C NP_003364.1:p.Met154Thr
NM_014000.3:c.461T>C MANE Select NP_054706.1:p.Met154Thr