Canonical Allele Identifier: CA2799118535

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48380036T>G , CM000675.2:g.48380036T>G	GRCh38
NC_000013.10:g.48954172T>G , CM000675.1:g.48954172T>G	GRCh37
NC_000013.9:g.47852173T>G	NCBI36
NG_009009.1:g.81290T>G , LRG_517:g.81290T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000267163.6:c.1390-17T>G MANE Select	ENSP00000267163.4:n.1390-17T>G
ENST00000650461.1:c.1390-17T>G	ENSP00000497193.1:n.1390-17T>G
ENST00000267163.4:c.1390-17T>G	ENSP00000267163.4:n.1390-17T>G
NM_000321.2:c.1390-17T>G , LRG_517t1:c.1390-17T>G	NP_000312.2:n.1390-17T>G
XM_011535171.1:c.1129-17T>G	XP_011533473.1:n.1129-17T>G
XM_011535171.2:c.1129-17T>G	XP_011533473.1:n.1129-17T>G
NM_000321.3:c.1390-17T>G MANE Select	NP_000312.2:n.1390-17T>G