Canonical Allele Identifier: CA033212
Gene: RB1 HGNC NCBI

Linked Data

dbSNP Id: rs780416519

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48459677T>C , CM000675.2:g.48459677T>C GRCh38
NC_000013.10:g.49033813T>C , CM000675.1:g.49033813T>C GRCh37
NC_000013.9:g.47931814T>C NCBI36
NG_009009.1:g.160931T>C , LRG_517:g.160931T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.1961-11T>C MANE Select ENSP00000267163.4:n.1961-11T>C
ENST00000643064.1:c.194+78234T>C
ENST00000650461.1:c.1961-11T>C ENSP00000497193.1:n.1961-11T>C
ENST00000267163.4:c.1961-11T>C ENSP00000267163.4:n.1961-11T>C
NM_000321.2:c.1961-11T>C , LRG_517t1:c.1961-11T>C NP_000312.2:n.1961-11T>C
XM_011535171.1:c.1700-11T>C XP_011533473.1:n.1700-11T>C
XM_011535171.2:c.1700-11T>C XP_011533473.1:n.1700-11T>C
NM_000321.3:c.1961-11T>C MANE Select NP_000312.2:n.1961-11T>C