Canonical Allele Identifier: CA026441

Gene: RB1

Linked Data

• ClinVar Variation Id: 13096
• ClinVar RCV Id: RCV000013972 ; RCV003321482
• dbSNP Id: rs587776791
• MyVariant Identifiers: chr13:g.49046098A>G (hg19) ; chr13:g.48471962A>G (hg38)
• PubMed: PMID:2673542

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48471962A>G , CM000675.2:g.48471962A>G	GRCh38
NC_000013.10:g.49046098A>G , CM000675.1:g.49046098A>G	GRCh37
NC_000013.9:g.47944099A>G	NCBI36
NG_009009.1:g.173216A>G , LRG_517:g.173216A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2490-1398A>G MANE Select	ENSP00000267163.4:n.2490-1398A>G
ENST00000643064.1:c.194+90519A>G
ENST00000650461.1:c.2490-1398A>G	ENSP00000497193.1:n.2490-1398A>G
ENST00000267163.4:c.2490-1398A>G	ENSP00000267163.4:n.2490-1398A>G
NM_000321.2:c.2490-1398A>G , LRG_517t1:c.2490-1398A>G	NP_000312.2:n.2490-1398A>G
XM_011535171.1:c.2229-1398A>G	XP_011533473.1:n.2229-1398A>G
XM_011535171.2:c.2229-1398A>G	XP_011533473.1:n.2229-1398A>G
NM_000321.3:c.2490-1398A>G MANE Select	NP_000312.2:n.2490-1398A>G