Canonical Allele Identifier: CA470165457

Gene: VCL

Linked Data

• ClinVar Variation Id: 2712955
• ClinVar RCV Id: RCV003513121
• dbSNP Id: rs199507346
• MyVariant Identifiers: chr10:g.75871720G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.74111962G>C , CM000672.2:g.74111962G>C	GRCh38
NC_000010.10:g.75871720G>C , CM000672.1:g.75871720G>C	GRCh37
NC_000010.9:g.75541726G>C	NCBI36
NG_008868.1:g.118849G>C , LRG_383:g.118849G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000211998.10:c.2799G>C MANE Select	ENSP00000211998.5:p.Ala933=
ENST00000211998.8:c.2799G>C	ENSP00000211998.4:p.Ala933=
ENST00000372755.7:c.2746-2222G>C	ENSP00000361841.3:n.2746-2222G>C
ENST00000436396.1:c.1815G>C	ENSP00000415489.1:p.Ala605=
ENST00000623461.3:n.5549-2222G>C
ENST00000624354.3:c.*2554G>C	ENSP00000485551.1:n.*2554G>C
NM_003373.3:c.2746-2222G>C	NP_003364.1:n.2746-2222G>C
NM_014000.2:c.2799G>C , LRG_383t1:c.2799G>C	NP_054706.1:p.Ala933=
XM_005270142.1:c.2802G>C	XP_005270199.1:p.Ala934=
XM_005270143.1:c.2749-2222G>C	XP_005270200.1:n.2749-2222G>C
NM_003373.4:c.2746-2222G>C	NP_003364.1:n.2746-2222G>C
NM_014000.3:c.2799G>C MANE Select	NP_054706.1:p.Ala933=