Canonical Allele Identifier: CA5562925

Gene: VCL

Linked Data

• ClinVar Variation Id: 572274
• ClinVar RCV Id: RCV000693616 ; RCV002397406
• dbSNP Id: rs771542436
• ExAC: 10:75848981 G / A
• gnomAD v2: 10-75848981-G-A
• gnomAD v3: 10-74089223-G-A
• gnomAD v4: 10-74089223-G-A
• MyVariant Identifiers: chr10:g.75848981G>A (hg19) ; chr10:g.74089223G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.74089223G>A , CM000672.2:g.74089223G>A	GRCh38
NC_000010.10:g.75848981G>A , CM000672.1:g.75848981G>A	GRCh37
NC_000010.9:g.75518987G>A	NCBI36
NG_008868.1:g.96110G>A , LRG_383:g.96110G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000211998.10:c.1050G>A MANE Select	ENSP00000211998.5:p.Met350Ile
ENST00000211998.8:c.1050G>A	ENSP00000211998.4:p.Met350Ile
ENST00000372755.7:c.1050G>A	ENSP00000361841.3:p.Met350Ile
ENST00000436396.1:c.66G>A	ENSP00000415489.1:p.Met22Ile
ENST00000478896.2:n.332-11831G>A
ENST00000623461.3:n.3853G>A
ENST00000624354.3:c.*805G>A	ENSP00000485551.1:n.*805G>A
NM_003373.3:c.1050G>A	NP_003364.1:p.Met350Ile
NM_014000.2:c.1050G>A , LRG_383t1:c.1050G>A	NP_054706.1:p.Met350Ile
XM_005270142.1:c.1053G>A	XP_005270199.1:p.Met351Ile
XM_005270143.1:c.1053G>A	XP_005270200.1:p.Met351Ile
XR_001747501.1:n.89+709C>T
NM_003373.4:c.1050G>A	NP_003364.1:p.Met350Ile
NM_014000.3:c.1050G>A MANE Select	NP_054706.1:p.Met350Ile