Canonical Allele Identifier: CA388168257

Gene: RB1

Linked Data

• dbSNP Id: rs1346717703
• COSMIC: COSM5945309
• MyVariant Identifiers: chr13:g.49050869G>A (hg19) ; chr13:g.48476733G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48476733G>A , CM000675.2:g.48476733G>A	GRCh38
NC_000013.10:g.49050869G>A , CM000675.1:g.49050869G>A	GRCh37
NC_000013.9:g.47948870G>A	NCBI36
NG_009009.1:g.177987G>A , LRG_517:g.177987G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2553G>A MANE Select	ENSP00000267163.4:p.Met851Ile
ENST00000643064.1:c.194+95290G>A
ENST00000650461.1:c.2553G>A	ENSP00000497193.1:p.Met851Ile
ENST00000267163.4:c.2553G>A	ENSP00000267163.4:p.Met851Ile
ENST00000484879.1:n.287G>A
ENST00000531171.5:n.156G>A
NM_000321.2:c.2553G>A , LRG_517t1:c.2553G>A	NP_000312.2:p.Met851Ile
XM_011535171.1:c.2292G>A	XP_011533473.1:p.Met764Ile
XM_011535171.2:c.2292G>A	XP_011533473.1:p.Met764Ile
NM_000321.3:c.2553G>A MANE Select	NP_000312.2:p.Met851Ile