Canonical Allele Identifier: CA026373

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48379624C>T , CM000675.2:g.48379624C>T	GRCh38
NC_000013.10:g.48953760C>T , CM000675.1:g.48953760C>T	GRCh37
NC_000013.9:g.47851761C>T	NCBI36
NG_009009.1:g.80878C>T , LRG_517:g.80878C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000321.3:c.1363C>T MANE Select	NP_000312.2:p.Arg455Ter
ENST00000267163.6:c.1363C>T MANE Select	ENSP00000267163.4:p.Arg455Ter
NM_000321.2:c.1363C>T , LRG_517t1:c.1363C>T	NP_000312.2:p.Arg455Ter
ENST00000267163.4:c.1363C>T	ENSP00000267163.4:p.Arg455Ter
ENST00000650461.1:c.1363C>T	ENSP00000497193.1:p.Arg455Ter
XM_011535171.1:c.1102C>T	XP_011533473.1:p.Arg368Ter
XM_011535171.2:c.1102C>T	XP_011533473.1:p.Arg368Ter
XR_002957522.1:n.40+211G>A