Canonical Allele Identifier: CA388157012

Gene: RB1

Linked Data

• MyVariant Identifiers: chr13:g.48923156A>G (hg19) ; chr13:g.48349020A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48349020A>G , CM000675.2:g.48349020A>G	GRCh38
NC_000013.10:g.48923156A>G , CM000675.1:g.48923156A>G	GRCh37
NC_000013.9:g.47821157A>G	NCBI36
NG_009009.1:g.50274A>G , LRG_517:g.50274A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000267163.6:c.604A>G MANE Select	ENSP00000267163.4:p.Lys202Glu
ENST00000650461.1:c.604A>G	ENSP00000497193.1:p.Lys202Glu
ENST00000267163.4:c.604A>G	ENSP00000267163.4:p.Lys202Glu
ENST00000467505.5:c.138-10997A>G	ENSP00000434702.1:n.138-10997A>G
ENST00000525036.1:n.766A>G
NM_000321.2:c.604A>G , LRG_517t1:c.604A>G	NP_000312.2:p.Lys202Glu
XM_011535171.1:c.343A>G	XP_011533473.1:p.Lys115Glu
XM_011535171.2:c.343A>G	XP_011533473.1:p.Lys115Glu
NM_000321.3:c.604A>G MANE Select	NP_000312.2:p.Lys202Glu