Canonical Allele Identifier: CA388156921

Gene: RB1

Linked Data

• MyVariant Identifiers: chr13:g.48923112C>A (hg19) ; chr13:g.48348976C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48348976C>A , CM000675.2:g.48348976C>A	GRCh38
NC_000013.10:g.48923112C>A , CM000675.1:g.48923112C>A	GRCh37
NC_000013.9:g.47821113C>A	NCBI36
NG_009009.1:g.50230C>A , LRG_517:g.50230C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.560C>A MANE Select	ENSP00000267163.4:p.Ser187Tyr
ENST00000650461.1:c.560C>A	ENSP00000497193.1:p.Ser187Tyr
ENST00000267163.4:c.560C>A	ENSP00000267163.4:p.Ser187Tyr
ENST00000467505.5:c.138-11041C>A	ENSP00000434702.1:n.138-11041C>A
ENST00000525036.1:n.722C>A
NM_000321.2:c.560C>A , LRG_517t1:c.560C>A	NP_000312.2:p.Ser187Tyr
XM_011535171.1:c.299C>A	XP_011533473.1:p.Ser100Tyr
XM_011535171.2:c.299C>A	XP_011533473.1:p.Ser100Tyr
NM_000321.3:c.560C>A MANE Select	NP_000312.2:p.Ser187Tyr