Canonical Allele Identifier: CA5562756

Gene: VCL

Linked Data

• dbSNP Id: rs778014082
• ExAC: 10:75830630 G / A
• gnomAD v2: 10-75830630-G-A
• gnomAD v3: 10-74070872-G-A
• gnomAD v4: 10-74070872-G-A
• MyVariant Identifiers: chr10:g.75830630G>A (hg19) ; chr10:g.74070872G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.74070872G>A , CM000672.2:g.74070872G>A	GRCh38
NC_000010.10:g.75830630G>A , CM000672.1:g.75830630G>A	GRCh37
NC_000010.9:g.75500636G>A	NCBI36
NG_008868.1:g.77759G>A , LRG_383:g.77759G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000211998.10:c.390+52G>A MANE Select	ENSP00000211998.5:n.390+52G>A
ENST00000211998.8:c.390+52G>A	ENSP00000211998.4:n.390+52G>A
ENST00000372755.7:c.390+52G>A	ENSP00000361841.3:n.390+52G>A
ENST00000478896.2:n.331+27719G>A
ENST00000623461.3:n.348+52G>A
ENST00000624354.3:c.*145+52G>A	ENSP00000485551.1:n.*145+52G>A
NM_003373.3:c.390+52G>A	NP_003364.1:n.390+52G>A
NM_014000.2:c.390+52G>A , LRG_383t1:c.390+52G>A	NP_054706.1:n.390+52G>A
XM_005270142.1:c.390+52G>A	XP_005270199.1:n.390+52G>A
XM_005270143.1:c.390+52G>A	XP_005270200.1:n.390+52G>A
NM_003373.4:c.390+52G>A	NP_003364.1:n.390+52G>A
NM_014000.3:c.390+52G>A MANE Select	NP_054706.1:n.390+52G>A