Canonical Allele Identifier: CA026446
Gene: RB1 HGNC NCBI
COSMIC:
COSM147687 (not active)
COSM5019223 (not active)
MyVariant.info:
GRCh38 chr13:g.48477345T>A
GRCh37 chr13:g.49051481T>A
gnomAD v2:
13:49051481 T / A
gnomAD v3:
13:48477345 T / A
gnomAD v4:
chr13-48477345-T-A
Joint Max Group AF 0.26187898 (SAS)
Genomes Max Group AF 0.25214228 (SAS)
Exomes Max Group AF 0.26182835 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48477345T>A , CM000675.2:g.48477345T>A GRCh38
NC_000013.10:g.49051481T>A , CM000675.1:g.49051481T>A GRCh37
NC_000013.9:g.47949482T>A NCBI36
NG_009009.1:g.178599T>A , LRG_517:g.178599T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.2664-10T>A MANE Select ENSP00000267163.4:n.2664-10T>A
ENST00000643064.1:c.194+95902T>A
ENST00000650461.1:c.2664-10T>A ENSP00000497193.1:n.2664-10T>A
ENST00000267163.4:c.2664-10T>A ENSP00000267163.4:n.2664-10T>A
ENST00000484879.1:n.398-10T>A
ENST00000531171.5:n.267-10T>A
NM_000321.2:c.2664-10T>A , LRG_517t1:c.2664-10T>A NP_000312.2:n.2664-10T>A
XM_011535171.1:c.2403-10T>A XP_011533473.1:n.2403-10T>A
XM_011535171.2:c.2403-10T>A XP_011533473.1:n.2403-10T>A
NM_000321.3:c.2664-10T>A MANE Select NP_000312.2:n.2664-10T>A
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