Canonical Allele Identifier: CA116953278
Gene: CAPSL HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.35909940C>T
GRCh37 chr5:g.35910042C>T
Revel Score:
ENST00000397367 0.709
ENST00000397366 0.709
ENST00000513623 0.709
ENST00000514524 0.709
gnomAD v2:
5:35910042 C / T
gnomAD v3:
5:35909940 C / T
gnomAD v4:
chr5-35909940-C-T
Joint Max Group AF 0.00005279 (AFR)
Genomes Max Group AF 0.00001919 (AFR)
Exomes Max Group AF 0.0000585 (AFR)
ClinVar RCV:
RCV004106058
ClinVar Variation:
2244432
dbSNP:
905926313
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.35909940C>T , CM000667.2:g.35909940C>T GRCh38
NC_000005.9:g.35910042C>T , CM000667.1:g.35910042C>T GRCh37
NC_000005.8:g.35945799C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651391.1:c.451G>A MANE Select ENSP00000498465.1:p.Gly151Arg
ENST00000397366.5:c.451G>A ENSP00000380523.1:p.Gly151Arg
ENST00000397367.6:c.451G>A ENSP00000380524.2:p.Gly151Arg
ENST00000513623.5:c.451G>A ENSP00000424806.1:p.Gly151Arg
ENST00000514524.2:c.451G>A ENSP00000421018.1:p.Gly151Arg
NM_001042625.1:c.451G>A NP_001036090.1:p.Gly151Arg
NM_144647.3:c.451G>A NP_653248.3:p.Gly151Arg
XM_006714444.2:c.502G>A XP_006714507.1:p.Gly168Arg
XM_006714445.2:c.502G>A XP_006714508.1:p.Gly168Arg
XM_006714444.3:c.502G>A XP_006714507.1:p.Gly168Arg
XM_006714445.3:c.502G>A XP_006714508.1:p.Gly168Arg
NM_001042625.2:c.451G>A MANE Select NP_001036090.1:p.Gly151Arg
NM_144647.4:c.451G>A NP_653248.3:p.Gly151Arg
Search 100 bp 5'
Search 100 bp 3'