Canonical Allele Identifier: CA3232388
Gene: CAPSL HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.35910427C>T
GRCh37 chr5:g.35910529C>T
Revel Score:
ENST00000397367 0.091
ENST00000397366 0.091
ENST00000513623 0.091
ENST00000514524 0.091
gnomAD v2:
5:35910529 C / T
gnomAD v3:
5:35910427 C / T
gnomAD v4:
chr5-35910427-C-T
Joint Max Group AF 0.76249131 (EAS)
Genomes Max Group AF 0.72572351 (EAS)
Exomes Max Group AF 0.76516891 (EAS)
dbSNP:
1445898
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.35910427C>T , CM000667.2:g.35910427C>T GRCh38
NC_000005.9:g.35910529C>T , CM000667.1:g.35910529C>T GRCh37
NC_000005.8:g.35946286C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651391.1:c.254G>A MANE Select ENSP00000498465.1:p.Arg85Gln
ENST00000397366.5:c.254G>A ENSP00000380523.1:p.Arg85Gln
ENST00000397367.6:c.254G>A ENSP00000380524.2:p.Arg85Gln
ENST00000513623.5:c.254G>A ENSP00000424806.1:p.Arg85Gln
ENST00000514524.2:c.254G>A ENSP00000421018.1:p.Arg85Gln
NM_001042625.1:c.254G>A NP_001036090.1:p.Arg85Gln
NM_144647.3:c.254G>A NP_653248.3:p.Arg85Gln
XM_006714444.2:c.305G>A XP_006714507.1:p.Arg102Gln
XM_006714445.2:c.305G>A XP_006714508.1:p.Arg102Gln
XM_006714444.3:c.305G>A XP_006714507.1:p.Arg102Gln
XM_006714445.3:c.305G>A XP_006714508.1:p.Arg102Gln
NM_001042625.2:c.254G>A MANE Select NP_001036090.1:p.Arg85Gln
NM_144647.4:c.254G>A NP_653248.3:p.Arg85Gln
Search 100 bp 5'
Search 100 bp 3'