Canonical Allele Identifier: CA388156770

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48347823A>G , CM000675.2:g.48347823A>G	GRCh38
NC_000013.10:g.48921959A>G , CM000675.1:g.48921959A>G	GRCh37
NC_000013.9:g.47819960A>G	NCBI36
NG_009009.1:g.49077A>G , LRG_517:g.49077A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000321.3:c.501-2A>G MANE Select	NP_000312.2:n.501-2A>G
ENST00000267163.6:c.501-2A>G MANE Select	ENSP00000267163.4:n.501-2A>G
NM_000321.2:c.501-2A>G , LRG_517t1:c.501-2A>G	NP_000312.2:n.501-2A>G
ENST00000267163.4:c.501-2A>G	ENSP00000267163.4:n.501-2A>G
ENST00000467505.5:c.138-12194A>G	ENSP00000434702.1:n.138-12194A>G
ENST00000525036.1:n.663-2A>G
ENST00000650461.1:c.501-2A>G	ENSP00000497193.1:n.501-2A>G
XM_011535171.1:c.240-2A>G	XP_011533473.1:n.240-2A>G
XM_011535171.2:c.240-2A>G	XP_011533473.1:n.240-2A>G