Canonical Allele Identifier: CA037506

Gene: RB1

Linked Data

• dbSNP Id: rs779647793
• ExAC: 13:48916765 T / C
• gnomAD v2: 13-48916765-T-C
• gnomAD v4: 13-48342629-T-C
• MyVariant Identifiers: chr13:g.48916765T>C (hg19) ; chr13:g.48342629T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48342629T>C , CM000675.2:g.48342629T>C	GRCh38
NC_000013.10:g.48916765T>C , CM000675.1:g.48916765T>C	GRCh37
NC_000013.9:g.47814766T>C	NCBI36
NG_009009.1:g.43883T>C , LRG_517:g.43883T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.295T>C MANE Select	ENSP00000267163.4:p.Trp99Arg
ENST00000650461.1:c.295T>C	ENSP00000497193.1:p.Trp99Arg
ENST00000267163.4:c.295T>C	ENSP00000267163.4:p.Trp99Arg
ENST00000467505.5:c.138-17388T>C	ENSP00000434702.1:n.138-17388T>C
ENST00000525036.1:n.457T>C
NM_000321.2:c.295T>C , LRG_517t1:c.295T>C	NP_000312.2:p.Trp99Arg
XM_011535171.1:c.34T>C	XP_011533473.1:p.Trp12Arg
XM_011535171.2:c.34T>C	XP_011533473.1:p.Trp12Arg
NM_000321.3:c.295T>C MANE Select	NP_000312.2:p.Trp99Arg