Canonical Allele Identifier: CA470165422

Gene: VCL

Linked Data

• ClinVar Variation Id: 468817
• ClinVar RCV Id: RCV000536390
• dbSNP Id: rs1057521313
• MyVariant Identifiers: chr10:g.75871690G>C (hg19) ; chr10:g.74111932G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.74111932G>C , CM000672.2:g.74111932G>C	GRCh38
NC_000010.10:g.75871690G>C , CM000672.1:g.75871690G>C	GRCh37
NC_000010.9:g.75541696G>C	NCBI36
NG_008868.1:g.118819G>C , LRG_383:g.118819G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000211998.10:c.2769G>C MANE Select	ENSP00000211998.5:p.Val923=
ENST00000211998.8:c.2769G>C	ENSP00000211998.4:p.Val923=
ENST00000372755.7:c.2746-2252G>C	ENSP00000361841.3:n.2746-2252G>C
ENST00000436396.1:c.1785G>C	ENSP00000415489.1:p.Val595=
ENST00000623461.3:n.5549-2252G>C
ENST00000624354.3:c.*2524G>C	ENSP00000485551.1:n.*2524G>C
NM_003373.3:c.2746-2252G>C	NP_003364.1:n.2746-2252G>C
NM_014000.2:c.2769G>C , LRG_383t1:c.2769G>C	NP_054706.1:p.Val923=
XM_005270142.1:c.2772G>C	XP_005270199.1:p.Val924=
XM_005270143.1:c.2749-2252G>C	XP_005270200.1:n.2749-2252G>C
NM_003373.4:c.2746-2252G>C	NP_003364.1:n.2746-2252G>C
NM_014000.3:c.2769G>C MANE Select	NP_054706.1:p.Val923=