Canonical Allele Identifier: CA388250260

Gene: RB1

Linked Data

• ClinVar Variation Id: 1756055
• ClinVar RCV Id: RCV002362317
• MyVariant Identifiers: chr13:g.48878116C>G (hg19) ; chr13:g.48303980C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48303980C>G , CM000675.2:g.48303980C>G	GRCh38
NC_000013.10:g.48878116C>G , CM000675.1:g.48878116C>G	GRCh37
NC_000013.9:g.47776117C>G	NCBI36
NG_009009.1:g.5234C>G , LRG_517:g.5234C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.68C>G MANE Select	ENSP00000267163.4:p.Pro23Arg
ENST00000646097.1:c.68C>G	ENSP00000496556.1:p.Pro23Arg
ENST00000650461.1:c.68C>G	ENSP00000497193.1:p.Pro23Arg
ENST00000267163.4:c.68C>G	ENSP00000267163.4:p.Pro23Arg
ENST00000467505.5:c.68C>G	ENSP00000434702.1:p.Pro23Arg
ENST00000525036.1:n.230C>G
NM_000321.2:c.68C>G , LRG_517t1:c.68C>G	NP_000312.2:p.Pro23Arg
NM_000321.3:c.68C>G MANE Select	NP_000312.2:p.Pro23Arg