Canonical Allele Identifier: CA033984

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48459818C>G , CM000675.2:g.48459818C>G	GRCh38
NC_000013.10:g.49033954C>G , CM000675.1:g.49033954C>G	GRCh37
NC_000013.9:g.47931955C>G	NCBI36
NG_009009.1:g.161072C>G , LRG_517:g.161072C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000321.3:c.2091C>G MANE Select	NP_000312.2:p.Asp697Glu
ENST00000267163.6:c.2091C>G MANE Select	ENSP00000267163.4:p.Asp697Glu
NM_000321.2:c.2091C>G , LRG_517t1:c.2091C>G	NP_000312.2:p.Asp697Glu
ENST00000267163.4:c.2091C>G	ENSP00000267163.4:p.Asp697Glu
ENST00000643064.1:c.194+78375C>G
ENST00000650461.1:c.2091C>G	ENSP00000497193.1:p.Asp697Glu
XM_011535171.1:c.1830C>G	XP_011533473.1:p.Asp610Glu
XM_011535171.2:c.1830C>G	XP_011533473.1:p.Asp610Glu