Canonical Allele Identifier: CA377264882

Gene: VCL

Linked Data

• ClinVar Variation Id: 1362985
• ClinVar RCV Id: RCV001902019
• dbSNP Id: rs2131937409
• MyVariant Identifiers: chr10:g.75871847G>T (hg19) ; chr10:g.74112089G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.74112089G>T , CM000672.2:g.74112089G>T	GRCh38
NC_000010.10:g.75871847G>T , CM000672.1:g.75871847G>T	GRCh37
NC_000010.9:g.75541853G>T	NCBI36
NG_008868.1:g.118976G>T , LRG_383:g.118976G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000211998.10:c.2926G>T MANE Select	ENSP00000211998.5:p.Glu976Ter
ENST00000211998.8:c.2926G>T	ENSP00000211998.4:p.Glu976Ter
ENST00000372755.7:c.2746-2095G>T	ENSP00000361841.3:n.2746-2095G>T
ENST00000436396.1:c.1942G>T	ENSP00000415489.1:p.Glu648Ter
ENST00000623461.3:n.5549-2095G>T
ENST00000624354.3:c.*2681G>T	ENSP00000485551.1:n.*2681G>T
NM_003373.3:c.2746-2095G>T	NP_003364.1:n.2746-2095G>T
NM_014000.2:c.2926G>T , LRG_383t1:c.2926G>T	NP_054706.1:p.Glu976Ter
XM_005270142.1:c.2929G>T	XP_005270199.1:p.Glu977Ter
XM_005270143.1:c.2749-2095G>T	XP_005270200.1:n.2749-2095G>T
NM_003373.4:c.2746-2095G>T	NP_003364.1:n.2746-2095G>T
NM_014000.3:c.2926G>T MANE Select	NP_054706.1:p.Glu976Ter