Canonical Allele Identifier: CA2090008071

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48459761T= , CM000675.2:g.48459761T=	GRCh38
NC_000013.10:g.49033897T= , CM000675.1:g.49033897T=	GRCh37
NC_000013.9:g.47931898T=	NCBI36
NG_009009.1:g.161015T= , LRG_517:g.161015T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2034T= MANE Select	ENSP00000267163.4:p.His678=
ENST00000643064.1:c.194+78318T=
ENST00000650461.1:c.2034T=	ENSP00000497193.1:p.His678=
ENST00000267163.4:c.2034T=	ENSP00000267163.4:p.His678=
NM_000321.2:c.2034T= , LRG_517t1:c.2034T=	NP_000312.2:p.His678=
XM_011535171.1:c.1773T=	XP_011533473.1:p.His591=
XM_011535171.2:c.1773T=	XP_011533473.1:p.His591=
NM_000321.3:c.2034T= MANE Select	NP_000312.2:p.His678=