Canonical Allele Identifier: CA117359
Gene: VSX1 HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.25082047A>G
GRCh37 chr20:g.25062683A>G
Revel Score:
ENST00000429762 0.676
ENST00000444511 0.676
ENST00000424574 0.676
ENST00000451258 0.676
ENST00000376709 (MANE Select) 0.676
ENST00000376707 0.676
ENST00000398332 0.676
gnomAD v2:
20:25062683 A / G
gnomAD v3:
20:25082047 A / G
gnomAD v4:
chr20-25082047-A-G
Joint Max Group AF 0.00213712 (MID)
Genomes Max Group AF 0.00014677 (NFE)
Exomes Max Group AF 0.00226966 (MID)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.25082047A>G , CM000682.2:g.25082047A>G GRCh38
NC_000020.10:g.25062683A>G , CM000682.1:g.25062683A>G GRCh37
NC_000020.9:g.25010683A>G NCBI36
NG_008101.1:g.5085T>C
NG_008101.2:g.5085T>C
NG_008101.3:g.5135T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000376709.9:c.50T>C MANE Select ENSP00000365899.3:p.Leu17Pro
ENST00000376707.4:c.50T>C ENSP00000365897.3:p.Leu17Pro
ENST00000376709.8:c.50T>C ENSP00000365899.3:p.Leu17Pro
ENST00000409285.6:c.50T>C ENSP00000386612.2:p.Leu17Pro
ENST00000409958.6:c.50T>C ENSP00000387069.2:p.Leu17Pro
ENST00000429762.7:c.50T>C ENSP00000401690.3:p.Leu17Pro
ENST00000444511.6:c.50T>C ENSP00000387720.2:p.Leu17Pro
NM_001256271.1:c.50T>C NP_001243200.1:p.Leu17Pro
NM_001256272.1:c.50T>C NP_001243201.1:p.Leu17Pro
NM_014588.5:c.50T>C NP_055403.2:p.Leu17Pro
NM_199425.2:c.50T>C NP_955457.1:p.Leu17Pro
NR_045948.1:n.333T>C
NR_045951.1:n.333T>C
XM_017027837.1:c.50T>C XP_016883326.1:p.Leu17Pro
XM_017027838.1:c.50T>C XP_016883327.1:p.Leu17Pro
NM_014588.6:c.50T>C MANE Select NP_055403.2:p.Leu17Pro
NM_001256271.2:c.50T>C NP_001243200.1:p.Leu17Pro
NM_001256272.2:c.50T>C NP_001243201.1:p.Leu17Pro
NM_199425.3:c.50T>C NP_955457.1:p.Leu17Pro
NR_045948.2:n.95T>C
NR_045951.2:n.95T>C
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