Canonical Allele Identifier: CA036169
Gene: RB1 HGNC NCBI
MyVariant.info:
GRCh38 chr13:g.48476746G>A
GRCh37 chr13:g.49050882G>A
Revel Score:
ENST00000542917 0.436
ENST00000267163 (MANE Select) 0.436
gnomAD v2:
13:49050882 G / A
gnomAD v3:
13:48476746 G / A
gnomAD v4:
chr13-48476746-G-A
Joint Max Group AF 0.00188905 (AFR)
Genomes Max Group AF 0.00189377 (AFR)
Exomes Max Group AF 0.00164463 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48476746G>A , CM000675.2:g.48476746G>A GRCh38
NC_000013.10:g.49050882G>A , CM000675.1:g.49050882G>A GRCh37
NC_000013.9:g.47948883G>A NCBI36
NG_009009.1:g.178000G>A , LRG_517:g.178000G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.2566G>A MANE Select ENSP00000267163.4:p.Asp856Asn
ENST00000643064.1:c.194+95303G>A
ENST00000650461.1:c.2566G>A ENSP00000497193.1:p.Asp856Asn
ENST00000267163.4:c.2566G>A ENSP00000267163.4:p.Asp856Asn
ENST00000484879.1:n.300G>A
ENST00000531171.5:n.169G>A
NM_000321.2:c.2566G>A , LRG_517t1:c.2566G>A NP_000312.2:p.Asp856Asn
XM_011535171.1:c.2305G>A XP_011533473.1:p.Asp769Asn
XM_011535171.2:c.2305G>A XP_011533473.1:p.Asp769Asn
NM_000321.3:c.2566G>A MANE Select NP_000312.2:p.Asp856Asn
Search 100 bp 5'
Search 100 bp 3'