Canonical Allele Identifier: CA388166755

Gene: RB1

Linked Data

• MyVariant Identifiers: chr13:g.49033872T>G (hg19) ; chr13:g.48459736T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48459736T>G , CM000675.2:g.48459736T>G	GRCh38
NC_000013.10:g.49033872T>G , CM000675.1:g.49033872T>G	GRCh37
NC_000013.9:g.47931873T>G	NCBI36
NG_009009.1:g.160990T>G , LRG_517:g.160990T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2009T>G MANE Select	ENSP00000267163.4:p.Leu670Arg
ENST00000643064.1:c.194+78293T>G
ENST00000650461.1:c.2009T>G	ENSP00000497193.1:p.Leu670Arg
ENST00000267163.4:c.2009T>G	ENSP00000267163.4:p.Leu670Arg
NM_000321.2:c.2009T>G , LRG_517t1:c.2009T>G	NP_000312.2:p.Leu670Arg
XM_011535171.1:c.1748T>G	XP_011533473.1:p.Leu583Arg
XM_011535171.2:c.1748T>G	XP_011533473.1:p.Leu583Arg
NM_000321.3:c.2009T>G MANE Select	NP_000312.2:p.Leu670Arg