Canonical Allele Identifier: CA645369535

Gene: RB1

Linked Data

• ClinVar Variation Id: 428666
• ClinVar RCV Id: RCV000492375 ; RCV001070474
• dbSNP Id: rs1131690848
• MyVariant Identifiers: chr13:g.48934268G>T (hg19) ; chr13:g.48360132G>T (hg38)
• PubMed: PMID:11668642

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48360132G>T , CM000675.2:g.48360132G>T	GRCh38
NC_000013.10:g.48934268G>T , CM000675.1:g.48934268G>T	GRCh37
NC_000013.9:g.47832269G>T	NCBI36
NG_009009.1:g.61386G>T , LRG_517:g.61386G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.718+5G>T MANE Select	ENSP00000267163.4:n.718+5G>T
ENST00000650461.1:c.718+5G>T	ENSP00000497193.1:n.718+5G>T
ENST00000267163.4:c.718+5G>T	ENSP00000267163.4:n.718+5G>T
ENST00000467505.5:c.*86+5G>T	ENSP00000434702.1:n.*86+5G>T
ENST00000525036.1:n.885G>T
NM_000321.2:c.718+5G>T , LRG_517t1:c.718+5G>T	NP_000312.2:n.718+5G>T
XM_011535171.1:c.457+5G>T	XP_011533473.1:n.457+5G>T
XM_011535171.2:c.457+5G>T	XP_011533473.1:n.457+5G>T
NM_000321.3:c.718+5G>T MANE Select	NP_000312.2:n.718+5G>T