Canonical Allele Identifier: CA249282041

Gene: RB1

Linked Data

• ClinVar Variation Id: 2182687
• ClinVar RCV Id: RCV002610977
• dbSNP Id: rs918222012
• MyVariant Identifiers: chr13:g.48955577T>C (hg19) ; chr13:g.48381441T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48381441T>C , CM000675.2:g.48381441T>C	GRCh38
NC_000013.10:g.48955577T>C , CM000675.1:g.48955577T>C	GRCh37
NC_000013.9:g.47853578T>C	NCBI36
NG_009009.1:g.82695T>C , LRG_517:g.82695T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1693T>C MANE Select	ENSP00000267163.4:p.Ser565Pro
ENST00000643064.1:c.192T>C
ENST00000650461.1:c.1693T>C	ENSP00000497193.1:p.Ser565Pro
ENST00000267163.4:c.1693T>C	ENSP00000267163.4:p.Ser565Pro
NM_000321.2:c.1693T>C , LRG_517t1:c.1693T>C	NP_000312.2:p.Ser565Pro
XM_011535171.1:c.1432T>C	XP_011533473.1:p.Ser478Pro
XM_011535171.2:c.1432T>C	XP_011533473.1:p.Ser478Pro
NM_000321.3:c.1693T>C MANE Select	NP_000312.2:p.Ser565Pro