Canonical Allele Identifier: CA483558035

Gene: RB1

Linked Data

• MyVariant Identifiers: chr13:g.48939074T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48364938T>G , CM000675.2:g.48364938T>G	GRCh38
NC_000013.10:g.48939074T>G , CM000675.1:g.48939074T>G	GRCh37
NC_000013.9:g.47837075T>G	NCBI36
NG_009009.1:g.66192T>G , LRG_517:g.66192T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.906T>G MANE Select	ENSP00000267163.4:p.Ser302=
ENST00000650461.1:c.906T>G	ENSP00000497193.1:p.Ser302=
ENST00000267163.4:c.906T>G	ENSP00000267163.4:p.Ser302=
NM_000321.2:c.906T>G , LRG_517t1:c.906T>G	NP_000312.2:p.Ser302=
XM_011535171.1:c.645T>G	XP_011533473.1:p.Ser215=
XM_011535171.2:c.645T>G	XP_011533473.1:p.Ser215=
XR_002957522.1:n.160A>C
NM_000321.3:c.906T>G MANE Select	NP_000312.2:p.Ser302=