Canonical Allele Identifier: CA388252870

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48345201T>C , CM000675.2:g.48345201T>C	GRCh38
NC_000013.10:g.48919337T>C , CM000675.1:g.48919337T>C	GRCh37
NC_000013.9:g.47817338T>C	NCBI36
NG_009009.1:g.46455T>C , LRG_517:g.46455T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000321.3:c.500+2T>C MANE Select	NP_000312.2:n.500+2T>C
ENST00000267163.6:c.500+2T>C MANE Select	ENSP00000267163.4:n.500+2T>C
NM_000321.2:c.500+2T>C , LRG_517t1:c.500+2T>C	NP_000312.2:n.500+2T>C
ENST00000267163.4:c.500+2T>C	ENSP00000267163.4:n.500+2T>C
ENST00000467505.5:c.138-14816T>C	ENSP00000434702.1:n.138-14816T>C
ENST00000525036.1:n.662+2T>C
ENST00000650461.1:c.500+2T>C	ENSP00000497193.1:n.500+2T>C
XM_011535171.1:c.239+2T>C	XP_011533473.1:n.239+2T>C
XM_011535171.2:c.239+2T>C	XP_011533473.1:n.239+2T>C