Canonical Allele Identifier: CA2728071158

Gene: RB1

Linked Data

• dbSNP Id: rs2138326854

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48452958C>T , CM000675.2:g.48452958C>T	GRCh38
NC_000013.10:g.49027094C>T , CM000675.1:g.49027094C>T	GRCh37
NC_000013.9:g.47925095C>T	NCBI36
NG_009009.1:g.154212C>T , LRG_517:g.154212C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000267163.6:c.1696-35C>T MANE Select	ENSP00000267163.4:n.1696-35C>T
ENST00000643064.1:c.194+71515C>T
ENST00000650461.1:c.1696-35C>T	ENSP00000497193.1:n.1696-35C>T
ENST00000267163.4:c.1696-35C>T	ENSP00000267163.4:n.1696-35C>T
ENST00000480491.1:n.395-35C>T
NM_000321.2:c.1696-35C>T , LRG_517t1:c.1696-35C>T	NP_000312.2:n.1696-35C>T
XM_011535171.1:c.1435-35C>T	XP_011533473.1:n.1435-35C>T
XM_011535171.2:c.1435-35C>T	XP_011533473.1:n.1435-35C>T
NM_000321.3:c.1696-35C>T MANE Select	NP_000312.2:n.1696-35C>T