Canonical Allele Identifier: CA388250409

Gene: RB1

Linked Data

• ClinVar Variation Id: 428673
• ClinVar RCV Id: RCV000492753
• dbSNP Id: rs1131690855
• gnomAD v4: 13-48304050-G-T
• MyVariant Identifiers: chr13:g.48878186G>T (hg19) ; chr13:g.48304050G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48304050G>T , CM000675.2:g.48304050G>T	GRCh38
NC_000013.10:g.48878186G>T , CM000675.1:g.48878186G>T	GRCh37
NC_000013.9:g.47776187G>T	NCBI36
NG_009009.1:g.5304G>T , LRG_517:g.5304G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000267163.6:c.137+1G>T MANE Select	ENSP00000267163.4:n.137+1G>T
ENST00000646097.1:c.137+1G>T	ENSP00000496556.1:n.137+1G>T
ENST00000650461.1:c.137+1G>T	ENSP00000497193.1:n.137+1G>T
ENST00000267163.4:c.137+1G>T	ENSP00000267163.4:n.137+1G>T
ENST00000467505.5:c.137+1G>T	ENSP00000434702.1:n.137+1G>T
ENST00000525036.1:n.299+1G>T
NM_000321.2:c.137+1G>T , LRG_517t1:c.137+1G>T	NP_000312.2:n.137+1G>T
NM_000321.3:c.137+1G>T MANE Select	NP_000312.2:n.137+1G>T