Canonical Allele Identifier: CA2841162602

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48365027A>T , CM000675.2:g.48365027A>T	GRCh38
NC_000013.10:g.48939163A>T , CM000675.1:g.48939163A>T	GRCh37
NC_000013.9:g.47837164A>T	NCBI36
NG_009009.1:g.66281A>T , LRG_517:g.66281A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.939+56A>T MANE Select	ENSP00000267163.4:n.939+56A>T
ENST00000650461.1:c.939+56A>T	ENSP00000497193.1:n.939+56A>T
ENST00000267163.4:c.939+56A>T	ENSP00000267163.4:n.939+56A>T
NM_000321.2:c.939+56A>T , LRG_517t1:c.939+56A>T	NP_000312.2:n.939+56A>T
XM_011535171.1:c.678+56A>T	XP_011533473.1:n.678+56A>T
XM_011535171.2:c.678+56A>T	XP_011533473.1:n.678+56A>T
XR_002957522.1:n.122-51T>A
NM_000321.3:c.939+56A>T MANE Select	NP_000312.2:n.939+56A>T