Canonical Allele Identifier: CA388168262

Gene: RB1

Linked Data

• dbSNP Id: rs1949506098
• COSMIC: COSM5945311
• MyVariant Identifiers: chr13:g.49050870G>A (hg19) ; chr13:g.48476734G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48476734G>A , CM000675.2:g.48476734G>A	GRCh38
NC_000013.10:g.49050870G>A , CM000675.1:g.49050870G>A	GRCh37
NC_000013.9:g.47948871G>A	NCBI36
NG_009009.1:g.177988G>A , LRG_517:g.177988G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2554G>A MANE Select	ENSP00000267163.4:p.Val852Ile
ENST00000643064.1:c.194+95291G>A
ENST00000650461.1:c.2554G>A	ENSP00000497193.1:p.Val852Ile
ENST00000267163.4:c.2554G>A	ENSP00000267163.4:p.Val852Ile
ENST00000484879.1:n.288G>A
ENST00000531171.5:n.157G>A
NM_000321.2:c.2554G>A , LRG_517t1:c.2554G>A	NP_000312.2:p.Val852Ile
XM_011535171.1:c.2293G>A	XP_011533473.1:p.Val765Ile
XM_011535171.2:c.2293G>A	XP_011533473.1:p.Val765Ile
NM_000321.3:c.2554G>A MANE Select	NP_000312.2:p.Val852Ile