Canonical Allele Identifier: CA117355

Gene: VSX1

Linked Data

• ClinVar Variation Id: 5248
• ClinVar RCV Id: RCV002054416
• dbSNP Id: rs74315433
• ExAC: 20:25060096 C / T
• gnomAD v2: 20-25060096-C-T
• gnomAD v3: 20-25079460-C-T
• gnomAD v4: 20-25079460-C-T
• MyVariant Identifiers: chr20:g.25060096C>T (hg19) ; chr20:g.25079460C>T (hg38)
• PubMed: PMID:7795607 ; PMID:11978762 ; PMID:12208142 ; PMID:15304120 ; PMID:15623752 ; PMID:16303937 ; PMID:16619239 ; PMID:19763142 ; PMID:21976959 ; PMID:25564336

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.25079460C>T , CM000682.2:g.25079460C>T	GRCh38
NC_000020.10:g.25060096C>T , CM000682.1:g.25060096C>T	GRCh37
NC_000020.9:g.25008096C>T	NCBI36
NG_008101.1:g.7672G>A
NG_008101.2:g.7672G>A
NG_008101.3:g.7722G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000376709.9:c.479G>A MANE Select	ENSP00000365899.3:p.Gly160Asp
ENST00000376707.4:c.479G>A	ENSP00000365897.3:p.Gly160Asp
ENST00000376709.8:c.479G>A	ENSP00000365899.3:p.Gly160Asp
ENST00000409285.6:c.479G>A	ENSP00000386612.2:p.Gly160Asp
ENST00000409958.6:c.479G>A	ENSP00000387069.2:p.Gly160Asp
ENST00000429762.7:c.479G>A	ENSP00000401690.3:p.Gly160Asp
ENST00000444511.6:c.479G>A	ENSP00000387720.2:p.Gly160Asp
NM_001256271.1:c.479G>A	NP_001243200.1:p.Gly160Asp
NM_001256272.1:c.479G>A	NP_001243201.1:p.Gly160Asp
NM_014588.5:c.479G>A	NP_055403.2:p.Gly160Asp
NM_199425.2:c.479G>A	NP_955457.1:p.Gly160Asp
NR_045948.1:n.762G>A
NR_045951.1:n.762G>A
XM_017027837.1:c.479G>A	XP_016883326.1:p.Gly160Asp
XM_017027838.1:c.479G>A	XP_016883327.1:p.Gly160Asp
NM_014588.6:c.479G>A MANE Select	NP_055403.2:p.Gly160Asp
NR_165181.1:n.237G>A
NM_001256271.2:c.479G>A	NP_001243200.1:p.Gly160Asp
NM_001256272.2:c.479G>A	NP_001243201.1:p.Gly160Asp
NM_199425.3:c.479G>A	NP_955457.1:p.Gly160Asp
NR_045948.2:n.524G>A
NR_045951.2:n.524G>A
NR_165181.2:n.119G>A