Canonical Allele Identifier: CA2573149569

Gene: RB1

Linked Data

• ClinVar Variation Id: 1546794
• ClinVar RCV Id: RCV002175027
• dbSNP Id: rs1321331035

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48364875G>T , CM000675.2:g.48364875G>T	GRCh38
NC_000013.10:g.48939011G>T , CM000675.1:g.48939011G>T	GRCh37
NC_000013.9:g.47837012G>T	NCBI36
NG_009009.1:g.66129G>T , LRG_517:g.66129G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000267163.6:c.862-19G>T MANE Select	ENSP00000267163.4:n.862-19G>T
ENST00000650461.1:c.862-19G>T	ENSP00000497193.1:n.862-19G>T
ENST00000267163.4:c.862-19G>T	ENSP00000267163.4:n.862-19G>T
NM_000321.2:c.862-19G>T , LRG_517t1:c.862-19G>T	NP_000312.2:n.862-19G>T
XM_011535171.1:c.601-19G>T	XP_011533473.1:n.601-19G>T
XM_011535171.2:c.601-19G>T	XP_011533473.1:n.601-19G>T
NM_000321.3:c.862-19G>T MANE Select	NP_000312.2:n.862-19G>T