Canonical Allele Identifier: CA2622979188

Gene: RB1

Linked Data

• dbSNP Id: rs2138093976
• gnomAD v4: 13-48349079-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48349079C>T , CM000675.2:g.48349079C>T	GRCh38
NC_000013.10:g.48923215C>T , CM000675.1:g.48923215C>T	GRCh37
NC_000013.9:g.47821216C>T	NCBI36
NG_009009.1:g.50333C>T , LRG_517:g.50333C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.607+56C>T MANE Select	ENSP00000267163.4:n.607+56C>T
ENST00000650461.1:c.607+56C>T	ENSP00000497193.1:n.607+56C>T
ENST00000267163.4:c.607+56C>T	ENSP00000267163.4:n.607+56C>T
ENST00000467505.5:c.138-10938C>T	ENSP00000434702.1:n.138-10938C>T
ENST00000525036.1:n.769+56C>T
NM_000321.2:c.607+56C>T , LRG_517t1:c.607+56C>T	NP_000312.2:n.607+56C>T
XM_011535171.1:c.346+56C>T	XP_011533473.1:n.346+56C>T
XM_011535171.2:c.346+56C>T	XP_011533473.1:n.346+56C>T
NM_000321.3:c.607+56C>T MANE Select	NP_000312.2:n.607+56C>T