Canonical Allele Identifier: CA2090021071

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48476794C= , CM000675.2:g.48476794C=	GRCh38
NC_000013.10:g.49050930C= , CM000675.1:g.49050930C=	GRCh37
NC_000013.9:g.47948931C=	NCBI36
NG_009009.1:g.178048C= , LRG_517:g.178048C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2614C= MANE Select	ENSP00000267163.4:p.Leu872=
ENST00000643064.1:c.194+95351C=
ENST00000650461.1:c.2614C=	ENSP00000497193.1:p.Leu872=
ENST00000267163.4:c.2614C=	ENSP00000267163.4:p.Leu872=
ENST00000484879.1:n.348C=
ENST00000531171.5:n.217C=
NM_000321.2:c.2614C= , LRG_517t1:c.2614C=	NP_000312.2:p.Leu872=
XM_011535171.1:c.2353C=	XP_011533473.1:p.Leu785=
XM_011535171.2:c.2353C=	XP_011533473.1:p.Leu785=
NM_000321.3:c.2614C= MANE Select	NP_000312.2:p.Leu872=