Canonical Allele Identifier: CA388166832

Gene: RB1

Linked Data

• dbSNP Id: rs2138336213
• COSMIC: COSM3772843 ; COSM3772844
• MyVariant Identifiers: chr13:g.49033906G>T (hg19) ; chr13:g.48459770G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48459770G>T , CM000675.2:g.48459770G>T	GRCh38
NC_000013.10:g.49033906G>T , CM000675.1:g.49033906G>T	GRCh37
NC_000013.9:g.47931907G>T	NCBI36
NG_009009.1:g.161024G>T , LRG_517:g.161024G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2043G>T MANE Select	ENSP00000267163.4:p.Trp681Cys
ENST00000643064.1:c.194+78327G>T
ENST00000650461.1:c.2043G>T	ENSP00000497193.1:p.Trp681Cys
ENST00000267163.4:c.2043G>T	ENSP00000267163.4:p.Trp681Cys
NM_000321.2:c.2043G>T , LRG_517t1:c.2043G>T	NP_000312.2:p.Trp681Cys
XM_011535171.1:c.1782G>T	XP_011533473.1:p.Trp594Cys
XM_011535171.2:c.1782G>T	XP_011533473.1:p.Trp594Cys
NM_000321.3:c.2043G>T MANE Select	NP_000312.2:p.Trp681Cys