Canonical Allele Identifier: CA026407

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48456298C>T , CM000675.2:g.48456298C>T	GRCh38
NC_000013.10:g.49030434C>T , CM000675.1:g.49030434C>T	GRCh37
NC_000013.9:g.47928435C>T	NCBI36
NG_009009.1:g.157552C>T , LRG_517:g.157552C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000321.3:c.1909C>T MANE Select	NP_000312.2:p.Gln637Ter
ENST00000267163.6:c.1909C>T MANE Select	ENSP00000267163.4:p.Gln637Ter
NM_000321.2:c.1909C>T , LRG_517t1:c.1909C>T	NP_000312.2:p.Gln637Ter
ENST00000267163.4:c.1909C>T	ENSP00000267163.4:p.Gln637Ter
ENST00000480491.1:n.608C>T
ENST00000643064.1:c.194+74855C>T
ENST00000650461.1:c.1909C>T	ENSP00000497193.1:p.Gln637Ter
XM_011535171.1:c.1648C>T	XP_011533473.1:p.Gln550Ter
XM_011535171.2:c.1648C>T	XP_011533473.1:p.Gln550Ter