Canonical Allele Identifier: CA388162845

Gene: RB1

Linked Data

• dbSNP Id: rs1269949158
• MyVariant Identifiers: chr13:g.48954338T>A (hg19) ; chr13:g.48380202T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48380202T>A , CM000675.2:g.48380202T>A	GRCh38
NC_000013.10:g.48954338T>A , CM000675.1:g.48954338T>A	GRCh37
NC_000013.9:g.47852339T>A	NCBI36
NG_009009.1:g.81456T>A , LRG_517:g.81456T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1459T>A MANE Select	ENSP00000267163.4:p.Leu487Met
ENST00000650461.1:c.1459T>A	ENSP00000497193.1:p.Leu487Met
ENST00000267163.4:c.1459T>A	ENSP00000267163.4:p.Leu487Met
NM_000321.2:c.1459T>A , LRG_517t1:c.1459T>A	NP_000312.2:p.Leu487Met
XM_011535171.1:c.1198T>A	XP_011533473.1:p.Leu400Met
XM_011535171.2:c.1198T>A	XP_011533473.1:p.Leu400Met
NM_000321.3:c.1459T>A MANE Select	NP_000312.2:p.Leu487Met