Canonical Allele Identifier: CA5563336

Gene: VCL

Linked Data

• ClinVar Variation Id: 618483
• ClinVar RCV Id: RCV000756900 ; RCV001855882 ; RCV002485960
• dbSNP Id: rs199751261
• ExAC: 10:75871826 G / A
• gnomAD v2: 10-75871826-G-A
• gnomAD v3: 10-74112068-G-A
• gnomAD v4: 10-74112068-G-A
• MyVariant Identifiers: chr10:g.75871826G>A (hg19) ; chr10:g.74112068G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.74112068G>A , CM000672.2:g.74112068G>A	GRCh38
NC_000010.10:g.75871826G>A , CM000672.1:g.75871826G>A	GRCh37
NC_000010.9:g.75541832G>A	NCBI36
NG_008868.1:g.118955G>A , LRG_383:g.118955G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000211998.10:c.2905G>A MANE Select	ENSP00000211998.5:p.Ala969Thr
ENST00000211998.8:c.2905G>A	ENSP00000211998.4:p.Ala969Thr
ENST00000372755.7:c.2746-2116G>A	ENSP00000361841.3:n.2746-2116G>A
ENST00000436396.1:c.1921G>A	ENSP00000415489.1:p.Ala641Thr
ENST00000623461.3:n.5549-2116G>A
ENST00000624354.3:c.*2660G>A	ENSP00000485551.1:n.*2660G>A
NM_003373.3:c.2746-2116G>A	NP_003364.1:n.2746-2116G>A
NM_014000.2:c.2905G>A , LRG_383t1:c.2905G>A	NP_054706.1:p.Ala969Thr
XM_005270142.1:c.2908G>A	XP_005270199.1:p.Ala970Thr
XM_005270143.1:c.2749-2116G>A	XP_005270200.1:n.2749-2116G>A
NM_003373.4:c.2746-2116G>A	NP_003364.1:n.2746-2116G>A
NM_014000.3:c.2905G>A MANE Select	NP_054706.1:p.Ala969Thr