Canonical Allele Identifier: CA388164057

Gene: RB1

Linked Data

• dbSNP Id: rs2138145815
• COSMIC: COSM48894
• MyVariant Identifiers: chr13:g.48955573G>A (hg19) ; chr13:g.48381437G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48381437G>A , CM000675.2:g.48381437G>A	GRCh38
NC_000013.10:g.48955573G>A , CM000675.1:g.48955573G>A	GRCh37
NC_000013.9:g.47853574G>A	NCBI36
NG_009009.1:g.82691G>A , LRG_517:g.82691G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1689G>A MANE Select	ENSP00000267163.4:p.Trp563Ter
ENST00000643064.1:c.188G>A
ENST00000650461.1:c.1689G>A	ENSP00000497193.1:p.Trp563Ter
ENST00000267163.4:c.1689G>A	ENSP00000267163.4:p.Trp563Ter
NM_000321.2:c.1689G>A , LRG_517t1:c.1689G>A	NP_000312.2:p.Trp563Ter
XM_011535171.1:c.1428G>A	XP_011533473.1:p.Trp476Ter
XM_011535171.2:c.1428G>A	XP_011533473.1:p.Trp476Ter
NM_000321.3:c.1689G>A MANE Select	NP_000312.2:p.Trp563Ter