Canonical Allele Identifier: CA388252586

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48345079G>A , CM000675.2:g.48345079G>A	GRCh38
NC_000013.10:g.48919215G>A , CM000675.1:g.48919215G>A	GRCh37
NC_000013.9:g.47817216G>A	NCBI36
NG_009009.1:g.46333G>A , LRG_517:g.46333G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000321.3:c.381-1G>A MANE Select	NP_000312.2:n.381-1G>A
ENST00000267163.6:c.381-1G>A MANE Select	ENSP00000267163.4:n.381-1G>A
NM_000321.2:c.381-1G>A , LRG_517t1:c.381-1G>A	NP_000312.2:n.381-1G>A
ENST00000267163.4:c.381-1G>A	ENSP00000267163.4:n.381-1G>A
ENST00000467505.5:c.138-14938G>A	ENSP00000434702.1:n.138-14938G>A
ENST00000525036.1:n.543-1G>A
ENST00000650461.1:c.381-1G>A	ENSP00000497193.1:n.381-1G>A
XM_011535171.1:c.120-1G>A	XP_011533473.1:n.120-1G>A
XM_011535171.2:c.120-1G>A	XP_011533473.1:n.120-1G>A