Canonical Allele Identifier: CA9793672
Gene: VSX1 HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.25081706G>T
GRCh37 chr20:g.25062342G>T
Revel Score:
ENST00000429762 0.316
ENST00000444511 0.316
ENST00000424574 0.316
ENST00000451258 0.316
ENST00000376709 (MANE Select) 0.316
ENST00000376707 0.316
ENST00000398332 0.316
gnomAD v2:
20:25062342 G / T
gnomAD v3:
20:25081706 G / T
gnomAD v4:
chr20-25081706-G-T
Joint Max Group AF 0.12455757 (AFR)
Genomes Max Group AF 0.11839049 (AFR)
Exomes Max Group AF 0.1313301 (AFR)
ClinVar RCV:
RCV000260491
RCV001711958
ClinVar Variation:
337965
dbSNP:
6050307
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.25081706G>T , CM000682.2:g.25081706G>T GRCh38
NC_000020.10:g.25062342G>T , CM000682.1:g.25062342G>T GRCh37
NC_000020.9:g.25010342G>T NCBI36
NG_008101.1:g.5426C>A
NG_008101.2:g.5426C>A
NG_008101.3:g.5476C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376709.9:c.391C>A MANE Select ENSP00000365899.3:p.Arg131Ser
ENST00000376707.4:c.391C>A ENSP00000365897.3:p.Arg131Ser
ENST00000376709.8:c.391C>A ENSP00000365899.3:p.Arg131Ser
ENST00000409285.6:c.391C>A ENSP00000386612.2:p.Arg131Ser
ENST00000409958.6:c.391C>A ENSP00000387069.2:p.Arg131Ser
ENST00000429762.7:c.391C>A ENSP00000401690.3:p.Arg131Ser
ENST00000444511.6:c.391C>A ENSP00000387720.2:p.Arg131Ser
NM_001256271.1:c.391C>A NP_001243200.1:p.Arg131Ser
NM_001256272.1:c.391C>A NP_001243201.1:p.Arg131Ser
NM_014588.5:c.391C>A NP_055403.2:p.Arg131Ser
NM_199425.2:c.391C>A NP_955457.1:p.Arg131Ser
NR_045948.1:n.674C>A
NR_045951.1:n.674C>A
XM_017027837.1:c.391C>A XP_016883326.1:p.Arg131Ser
XM_017027838.1:c.391C>A XP_016883327.1:p.Arg131Ser
NM_014588.6:c.391C>A MANE Select NP_055403.2:p.Arg131Ser
NM_001256271.2:c.391C>A NP_001243200.1:p.Arg131Ser
NM_001256272.2:c.391C>A NP_001243201.1:p.Arg131Ser
NM_199425.3:c.391C>A NP_955457.1:p.Arg131Ser
NR_045948.2:n.436C>A
NR_045951.2:n.436C>A
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