Canonical Allele Identifier: CA5563014
Community Standard Title: NM_014000.3(VCL):c.1490T>C (p.Ile497Thr)
Gene: VCL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.74094408T>C , CM000672.2:g.74094408T>C GRCh38
NC_000010.10:g.75854166T>C , CM000672.1:g.75854166T>C GRCh37
NC_000010.9:g.75524172T>C NCBI36
NG_008868.1:g.101295T>C , LRG_383:g.101295T>C

Transcript Alleles

HGVS Amino-acid Change
NM_014000.3:c.1490T>C MANE Select NP_054706.1:p.Ile497Thr
ENST00000211998.10:c.1490T>C MANE Select ENSP00000211998.5:p.Ile497Thr
NM_003373.3:c.1490T>C NP_003364.1:p.Ile497Thr
NM_003373.4:c.1490T>C NP_003364.1:p.Ile497Thr
NM_014000.2:c.1490T>C , LRG_383t1:c.1490T>C NP_054706.1:p.Ile497Thr
ENST00000211998.8:c.1490T>C ENSP00000211998.4:p.Ile497Thr
ENST00000372755.7:c.1490T>C ENSP00000361841.3:p.Ile497Thr
ENST00000436396.1:c.506T>C ENSP00000415489.1:p.Ile169Thr
ENST00000478896.2:n.332-6646T>C
ENST00000623461.3:n.4293T>C
ENST00000624354.3:c.*1245T>C ENSP00000485551.1:n.*1245T>C
XM_005270142.1:c.1493T>C XP_005270199.1:p.Ile498Thr
XM_005270143.1:c.1493T>C XP_005270200.1:p.Ile498Thr