Canonical Allele Identifier: CA388167545
Gene: RB1 HGNC NCBI
MyVariant.info:
GRCh38 chr13:g.48465028G>A
GRCh37 chr13:g.49039164G>A
Revel Score:
ENST00000542917 0.254
ENST00000267163 (MANE Select) 0.254
gnomAD v3:
13:48465028 G / A
gnomAD v4:
chr13-48465028-G-A
Joint Max Group AF 6.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar RCV:
RCV000632956
RCV003321698
ClinVar Variation:
527926
dbSNP:
121913297
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48465028G>A , CM000675.2:g.48465028G>A GRCh38
NC_000013.10:g.49039164G>A , CM000675.1:g.49039164G>A GRCh37
NC_000013.9:g.47937165G>A NCBI36
NG_009009.1:g.166282G>A , LRG_517:g.166282G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.2242G>A MANE Select ENSP00000267163.4:p.Glu748Lys
ENST00000643064.1:c.194+83585G>A
ENST00000650461.1:c.2242G>A ENSP00000497193.1:p.Glu748Lys
ENST00000267163.4:c.2242G>A ENSP00000267163.4:p.Glu748Lys
NM_000321.2:c.2242G>A , LRG_517t1:c.2242G>A NP_000312.2:p.Glu748Lys
XM_011535171.1:c.1981G>A XP_011533473.1:p.Glu661Lys
XM_011535171.2:c.1981G>A XP_011533473.1:p.Glu661Lys
NM_000321.3:c.2242G>A MANE Select NP_000312.2:p.Glu748Lys
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