Canonical Allele Identifier: CA2695199741

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48347867A>G , CM000675.2:g.48347867A>G	GRCh38
NC_000013.10:g.48922003A>G , CM000675.1:g.48922003A>G	GRCh37
NC_000013.9:g.47820004A>G	NCBI36
NG_009009.1:g.49121A>G , LRG_517:g.49121A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000321.3:c.539+4A>G MANE Select	NP_000312.2:n.539+4A>G
ENST00000267163.6:c.539+4A>G MANE Select	ENSP00000267163.4:n.539+4A>G
NM_000321.2:c.539+4A>G , LRG_517t1:c.539+4A>G	NP_000312.2:n.539+4A>G
ENST00000267163.4:c.539+4A>G	ENSP00000267163.4:n.539+4A>G
ENST00000467505.5:c.138-12150A>G	ENSP00000434702.1:n.138-12150A>G
ENST00000525036.1:n.701+4A>G
ENST00000650461.1:c.539+4A>G	ENSP00000497193.1:n.539+4A>G
XM_011535171.1:c.278+4A>G	XP_011533473.1:n.278+4A>G
XM_011535171.2:c.278+4A>G	XP_011533473.1:n.278+4A>G