Canonical Allele Identifier: CA026469

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48364969G>T , CM000675.2:g.48364969G>T	GRCh38
NC_000013.10:g.48939105G>T , CM000675.1:g.48939105G>T	GRCh37
NC_000013.9:g.47837106G>T	NCBI36
NG_009009.1:g.66223G>T , LRG_517:g.66223G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000321.3:c.937G>T MANE Select	NP_000312.2:p.Glu313Ter
ENST00000267163.6:c.937G>T MANE Select	ENSP00000267163.4:p.Glu313Ter
NM_000321.2:c.937G>T , LRG_517t1:c.937G>T	NP_000312.2:p.Glu313Ter
ENST00000267163.4:c.937G>T	ENSP00000267163.4:p.Glu313Ter
ENST00000650461.1:c.937G>T	ENSP00000497193.1:p.Glu313Ter
XM_011535171.1:c.676G>T	XP_011533473.1:p.Glu226Ter
XM_011535171.2:c.676G>T	XP_011533473.1:p.Glu226Ter
XR_002957522.1:n.129C>A