Canonical Allele Identifier: CA2090008049

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48459754T= , CM000675.2:g.48459754T=	GRCh38
NC_000013.10:g.49033890T= , CM000675.1:g.49033890T=	GRCh37
NC_000013.9:g.47931891T=	NCBI36
NG_009009.1:g.161008T= , LRG_517:g.161008T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2027T= MANE Select	ENSP00000267163.4:p.Leu676=
ENST00000643064.1:c.194+78311T=
ENST00000650461.1:c.2027T=	ENSP00000497193.1:p.Leu676=
ENST00000267163.4:c.2027T=	ENSP00000267163.4:p.Leu676=
NM_000321.2:c.2027T= , LRG_517t1:c.2027T=	NP_000312.2:p.Leu676=
XM_011535171.1:c.1766T=	XP_011533473.1:p.Leu589=
XM_011535171.2:c.1766T=	XP_011533473.1:p.Leu589=
NM_000321.3:c.2027T= MANE Select	NP_000312.2:p.Leu676=