Canonical Allele Identifier: CA2090013911
Gene: RB1 HGNC NCBI

Linked Data

dbSNP Id: rs1686134561
gnomAD v4: 13-48452858-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48452858T>C , CM000675.2:g.48452858T>C GRCh38
NC_000013.10:g.49026994T>C , CM000675.1:g.49026994T>C GRCh37
NC_000013.9:g.47924995T>C NCBI36
NG_009009.1:g.154112T>C , LRG_517:g.154112T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.1696-135T>C MANE Select ENSP00000267163.4:n.1696-135T>C
ENST00000643064.1:c.194+71415T>C
ENST00000650461.1:c.1696-135T>C ENSP00000497193.1:n.1696-135T>C
ENST00000267163.4:c.1696-135T>C ENSP00000267163.4:n.1696-135T>C
ENST00000480491.1:n.395-135T>C
NM_000321.2:c.1696-135T>C , LRG_517t1:c.1696-135T>C NP_000312.2:n.1696-135T>C
XM_011535171.1:c.1435-135T>C XP_011533473.1:n.1435-135T>C
XM_011535171.2:c.1435-135T>C XP_011533473.1:n.1435-135T>C
NM_000321.3:c.1696-135T>C MANE Select NP_000312.2:n.1696-135T>C
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