Canonical Allele Identifier: CA2697551845

Gene: RB1

Linked Data

• ClinVar Variation Id: 2699016
• ClinVar RCV Id: RCV003515338

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48348941C>G , CM000675.2:g.48348941C>G	GRCh38
NC_000013.10:g.48923077C>G , CM000675.1:g.48923077C>G	GRCh37
NC_000013.9:g.47821078C>G	NCBI36
NG_009009.1:g.50195C>G , LRG_517:g.50195C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.540-15C>G MANE Select	ENSP00000267163.4:n.540-15C>G
ENST00000650461.1:c.540-15C>G	ENSP00000497193.1:n.540-15C>G
ENST00000267163.4:c.540-15C>G	ENSP00000267163.4:n.540-15C>G
ENST00000467505.5:c.138-11076C>G	ENSP00000434702.1:n.138-11076C>G
ENST00000525036.1:n.702-15C>G
NM_000321.2:c.540-15C>G , LRG_517t1:c.540-15C>G	NP_000312.2:n.540-15C>G
XM_011535171.1:c.279-15C>G	XP_011533473.1:n.279-15C>G
XM_011535171.2:c.279-15C>G	XP_011533473.1:n.279-15C>G
NM_000321.3:c.540-15C>G MANE Select	NP_000312.2:n.540-15C>G