Canonical Allele Identifier: CA136799
Gene: VCL HGNC NCBI
ClinVar Variation:
gnomAD v4:
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.74072820C>T , CM000672.2:g.74072820C>T GRCh38
NC_000010.10:g.75832578C>T , CM000672.1:g.75832578C>T GRCh37
NC_000010.9:g.75502584C>T NCBI36
NG_008868.1:g.79707C>T , LRG_383:g.79707C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000211998.10:c.590C>T MANE Select ENSP00000211998.5:p.Thr197Ile
ENST00000211998.8:c.590C>T ENSP00000211998.4:p.Thr197Ile
ENST00000372755.7:c.590C>T ENSP00000361841.3:p.Thr197Ile
ENST00000478896.2:n.332-28234C>T
ENST00000623461.3:n.548C>T
ENST00000624354.3:c.*345C>T ENSP00000485551.1:n.*345C>T
NM_003373.3:c.590C>T NP_003364.1:p.Thr197Ile
NM_014000.2:c.590C>T , LRG_383t1:c.590C>T NP_054706.1:p.Thr197Ile
XM_005270142.1:c.590C>T XP_005270199.1:p.Thr197Ile
XM_005270143.1:c.590C>T XP_005270200.1:p.Thr197Ile
NM_003373.4:c.590C>T NP_003364.1:p.Thr197Ile
NM_014000.3:c.590C>T MANE Select NP_054706.1:p.Thr197Ile