Canonical Allele Identifier: CA388159959

Gene: RB1

Linked Data

• MyVariant Identifiers: chr13:g.48939064T>A (hg19) ; chr13:g.48364928T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48364928T>A , CM000675.2:g.48364928T>A	GRCh38
NC_000013.10:g.48939064T>A , CM000675.1:g.48939064T>A	GRCh37
NC_000013.9:g.47837065T>A	NCBI36
NG_009009.1:g.66182T>A , LRG_517:g.66182T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.896T>A MANE Select	ENSP00000267163.4:p.Phe299Tyr
ENST00000650461.1:c.896T>A	ENSP00000497193.1:p.Phe299Tyr
ENST00000267163.4:c.896T>A	ENSP00000267163.4:p.Phe299Tyr
NM_000321.2:c.896T>A , LRG_517t1:c.896T>A	NP_000312.2:p.Phe299Tyr
XM_011535171.1:c.635T>A	XP_011533473.1:p.Phe212Tyr
XM_011535171.2:c.635T>A	XP_011533473.1:p.Phe212Tyr
XR_002957522.1:n.170A>T
NM_000321.3:c.896T>A MANE Select	NP_000312.2:p.Phe299Tyr