Canonical Allele Identifier: CA026424

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48463788A>T , CM000675.2:g.48463788A>T	GRCh38
NC_000013.10:g.49037924A>T , CM000675.1:g.49037924A>T	GRCh37
NC_000013.9:g.47935925A>T	NCBI36
NG_009009.1:g.165042A>T , LRG_517:g.165042A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000321.3:c.2164A>T MANE Select	NP_000312.2:p.Lys722Ter
ENST00000267163.6:c.2164A>T MANE Select	ENSP00000267163.4:p.Lys722Ter
NM_000321.2:c.2164A>T , LRG_517t1:c.2164A>T	NP_000312.2:p.Lys722Ter
ENST00000267163.4:c.2164A>T	ENSP00000267163.4:p.Lys722Ter
ENST00000643064.1:c.194+82345A>T
ENST00000650461.1:c.2164A>T	ENSP00000497193.1:p.Lys722Ter
XM_011535171.1:c.1903A>T	XP_011533473.1:p.Lys635Ter
XM_011535171.2:c.1903A>T	XP_011533473.1:p.Lys635Ter