Canonical Allele Identifier: CA2090008198

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48459827G= , CM000675.2:g.48459827G=	GRCh38
NC_000013.10:g.49033963G= , CM000675.1:g.49033963G=	GRCh37
NC_000013.9:g.47931964G=	NCBI36
NG_009009.1:g.161081G= , LRG_517:g.161081G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2100G= MANE Select	ENSP00000267163.4:p.Leu700=
ENST00000643064.1:c.194+78384G=
ENST00000650461.1:c.2100G=	ENSP00000497193.1:p.Leu700=
ENST00000267163.4:c.2100G=	ENSP00000267163.4:p.Leu700=
NM_000321.2:c.2100G= , LRG_517t1:c.2100G=	NP_000312.2:p.Leu700=
XM_011535171.1:c.1839G=	XP_011533473.1:p.Leu613=
XM_011535171.2:c.1839G=	XP_011533473.1:p.Leu613=
NM_000321.3:c.2100G= MANE Select	NP_000312.2:p.Leu700=