Canonical Allele Identifier: CA388250273

Gene: RB1

Linked Data

• dbSNP Id: rs1593412158
• gnomAD v4: 13-48303986-C-G
• MyVariant Identifiers: chr13:g.48878122C>G (hg19) ; chr13:g.48303986C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48303986C>G , CM000675.2:g.48303986C>G	GRCh38
NC_000013.10:g.48878122C>G , CM000675.1:g.48878122C>G	GRCh37
NC_000013.9:g.47776123C>G	NCBI36
NG_009009.1:g.5240C>G , LRG_517:g.5240C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.74C>G MANE Select	ENSP00000267163.4:p.Pro25Arg
ENST00000646097.1:c.74C>G	ENSP00000496556.1:p.Pro25Arg
ENST00000650461.1:c.74C>G	ENSP00000497193.1:p.Pro25Arg
ENST00000267163.4:c.74C>G	ENSP00000267163.4:p.Pro25Arg
ENST00000467505.5:c.74C>G	ENSP00000434702.1:p.Pro25Arg
ENST00000525036.1:n.236C>G
NM_000321.2:c.74C>G , LRG_517t1:c.74C>G	NP_000312.2:p.Pro25Arg
NM_000321.3:c.74C>G MANE Select	NP_000312.2:p.Pro25Arg