Canonical Allele Identifier: CA136727

Gene: VCL

Linked Data

• ClinVar Variation Id: 45591
• ClinVar RCV Id: RCV000038807 ; RCV000172505 ; RCV000769113 ; RCV003624402
• dbSNP Id: rs397517236
• gnomAD v2: 10-75857016-A-C
• gnomAD v4: 10-74097258-A-C
• MyVariant Identifiers: chr10:g.75857016A>C (hg19) ; chr10:g.74097258A>C (hg38)
• PubMed: PMID:23861362

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.74097258A>C , CM000672.2:g.74097258A>C	GRCh38
NC_000010.10:g.75857016A>C , CM000672.1:g.75857016A>C	GRCh37
NC_000010.9:g.75527022A>C	NCBI36
NG_008868.1:g.104145A>C , LRG_383:g.104145A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000211998.10:c.1798A>C MANE Select	ENSP00000211998.5:p.Ser600Arg
ENST00000211998.8:c.1798A>C	ENSP00000211998.4:p.Ser600Arg
ENST00000372755.7:c.1798A>C	ENSP00000361841.3:p.Ser600Arg
ENST00000436396.1:c.814A>C	ENSP00000415489.1:p.Ser272Arg
ENST00000478896.2:n.332-3796A>C
ENST00000623461.3:n.4601A>C
ENST00000624354.3:c.*1553A>C	ENSP00000485551.1:n.*1553A>C
NM_003373.3:c.1798A>C	NP_003364.1:p.Ser600Arg
NM_014000.2:c.1798A>C , LRG_383t1:c.1798A>C	NP_054706.1:p.Ser600Arg
XM_005270142.1:c.1801A>C	XP_005270199.1:p.Ser601Arg
XM_005270143.1:c.1801A>C	XP_005270200.1:p.Ser601Arg
NM_003373.4:c.1798A>C	NP_003364.1:p.Ser600Arg
NM_014000.3:c.1798A>C MANE Select	NP_054706.1:p.Ser600Arg