Canonical Allele Identifier: CA388159955

Gene: RB1

Linked Data

• MyVariant Identifiers: chr13:g.48939063T>G (hg19) ; chr13:g.48364927T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48364927T>G , CM000675.2:g.48364927T>G	GRCh38
NC_000013.10:g.48939063T>G , CM000675.1:g.48939063T>G	GRCh37
NC_000013.9:g.47837064T>G	NCBI36
NG_009009.1:g.66181T>G , LRG_517:g.66181T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.895T>G MANE Select	ENSP00000267163.4:p.Phe299Val
ENST00000650461.1:c.895T>G	ENSP00000497193.1:p.Phe299Val
ENST00000267163.4:c.895T>G	ENSP00000267163.4:p.Phe299Val
NM_000321.2:c.895T>G , LRG_517t1:c.895T>G	NP_000312.2:p.Phe299Val
XM_011535171.1:c.634T>G	XP_011533473.1:p.Phe212Val
XM_011535171.2:c.634T>G	XP_011533473.1:p.Phe212Val
XR_002957522.1:n.171A>C
NM_000321.3:c.895T>G MANE Select	NP_000312.2:p.Phe299Val