Canonical Allele Identifier: CA5563337

Gene: VCL

Linked Data

• ClinVar Variation Id: 2054177
• ClinVar RCV Id: RCV002927792 ; RCV003238908
• dbSNP Id: rs534101808
• ExAC: 10:75871827 C / T
• gnomAD v2: 10-75871827-C-T
• gnomAD v3: 10-74112069-C-T
• gnomAD v4: 10-74112069-C-T
• COSMIC: COSM1349109
• MyVariant Identifiers: chr10:g.75871827C>T (hg19) ; chr10:g.74112069C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.74112069C>T , CM000672.2:g.74112069C>T	GRCh38
NC_000010.10:g.75871827C>T , CM000672.1:g.75871827C>T	GRCh37
NC_000010.9:g.75541833C>T	NCBI36
NG_008868.1:g.118956C>T , LRG_383:g.118956C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000211998.10:c.2906C>T MANE Select	ENSP00000211998.5:p.Ala969Val
ENST00000211998.8:c.2906C>T	ENSP00000211998.4:p.Ala969Val
ENST00000372755.7:c.2746-2115C>T	ENSP00000361841.3:n.2746-2115C>T
ENST00000436396.1:c.1922C>T	ENSP00000415489.1:p.Ala641Val
ENST00000623461.3:n.5549-2115C>T
ENST00000624354.3:c.*2661C>T	ENSP00000485551.1:n.*2661C>T
NM_003373.3:c.2746-2115C>T	NP_003364.1:n.2746-2115C>T
NM_014000.2:c.2906C>T , LRG_383t1:c.2906C>T	NP_054706.1:p.Ala969Val
XM_005270142.1:c.2909C>T	XP_005270199.1:p.Ala970Val
XM_005270143.1:c.2749-2115C>T	XP_005270200.1:n.2749-2115C>T
NM_003373.4:c.2746-2115C>T	NP_003364.1:n.2746-2115C>T
NM_014000.3:c.2906C>T MANE Select	NP_054706.1:p.Ala969Val