Canonical Allele Identifier: CA2622986114

Gene: RB1

Linked Data

• gnomAD v4: 13-48476601-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48476601T>G , CM000675.2:g.48476601T>G	GRCh38
NC_000013.10:g.49050737T>G , CM000675.1:g.49050737T>G	GRCh37
NC_000013.9:g.47948738T>G	NCBI36
NG_009009.1:g.177855T>G , LRG_517:g.177855T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2521-100T>G MANE Select	ENSP00000267163.4:n.2521-100T>G
ENST00000643064.1:c.194+95158T>G
ENST00000650461.1:c.2521-100T>G	ENSP00000497193.1:n.2521-100T>G
ENST00000267163.4:c.2521-100T>G	ENSP00000267163.4:n.2521-100T>G
ENST00000484879.1:n.155T>G
ENST00000531171.5:n.123+79T>G
NM_000321.2:c.2521-100T>G , LRG_517t1:c.2521-100T>G	NP_000312.2:n.2521-100T>G
XM_011535171.1:c.2260-100T>G	XP_011533473.1:n.2260-100T>G
XM_011535171.2:c.2260-100T>G	XP_011533473.1:n.2260-100T>G
NM_000321.3:c.2521-100T>G MANE Select	NP_000312.2:n.2521-100T>G