Canonical Allele Identifier: CA16614007

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48362880C>T , CM000675.2:g.48362880C>T	GRCh38
NC_000013.10:g.48937016C>T , CM000675.1:g.48937016C>T	GRCh37
NC_000013.9:g.47835017C>T	NCBI36
NG_009009.1:g.64134C>T , LRG_517:g.64134C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000321.3:c.784C>T MANE Select	NP_000312.2:p.Arg262Trp
ENST00000267163.6:c.784C>T MANE Select	ENSP00000267163.4:p.Arg262Trp
NM_000321.2:c.784C>T , LRG_517t1:c.784C>T	NP_000312.2:p.Arg262Trp
ENST00000267163.4:c.784C>T	ENSP00000267163.4:p.Arg262Trp
ENST00000467505.5:c.*152C>T	ENSP00000434702.1:n.*152C>T
ENST00000650461.1:c.784C>T	ENSP00000497193.1:p.Arg262Trp
XM_011535171.1:c.523C>T	XP_011533473.1:p.Arg175Trp
XM_011535171.2:c.523C>T	XP_011533473.1:p.Arg175Trp