Canonical Allele Identifier: CA10605763

Gene: RB1

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48465369G>C , CM000675.2:g.48465369G>C	GRCh38
NC_000013.10:g.49039505G>C , CM000675.1:g.49039505G>C	GRCh37
NC_000013.9:g.47937506G>C	NCBI36
NG_009009.1:g.166623G>C , LRG_517:g.166623G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2489+1G>C MANE Select	ENSP00000267163.4:n.2489+1G>C
ENST00000643064.1:c.194+83926G>C
ENST00000650461.1:c.2489+1G>C	ENSP00000497193.1:n.2489+1G>C
ENST00000267163.4:c.2489+1G>C	ENSP00000267163.4:n.2489+1G>C
NM_000321.2:c.2489+1G>C , LRG_517t1:c.2489+1G>C	NP_000312.2:n.2489+1G>C
XM_011535171.1:c.2228+1G>C	XP_011533473.1:n.2228+1G>C
XM_011535171.2:c.2228+1G>C	XP_011533473.1:n.2228+1G>C
NM_000321.3:c.2489+1G>C MANE Select	NP_000312.2:n.2489+1G>C