Canonical Allele Identifier: CA038876

Gene: RB1

Linked Data

• dbSNP Id: rs768091260
• ExAC: 13:48923132 T / A
• gnomAD v2: 13-48923132-T-A
• gnomAD v4: 13-48348996-T-A
• MyVariant Identifiers: chr13:g.48923132T>A (hg19) ; chr13:g.48348996T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48348996T>A , CM000675.2:g.48348996T>A	GRCh38
NC_000013.10:g.48923132T>A , CM000675.1:g.48923132T>A	GRCh37
NC_000013.9:g.47821133T>A	NCBI36
NG_009009.1:g.50250T>A , LRG_517:g.50250T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.580T>A MANE Select	ENSP00000267163.4:p.Ser194Thr
ENST00000650461.1:c.580T>A	ENSP00000497193.1:p.Ser194Thr
ENST00000267163.4:c.580T>A	ENSP00000267163.4:p.Ser194Thr
ENST00000467505.5:c.138-11021T>A	ENSP00000434702.1:n.138-11021T>A
ENST00000525036.1:n.742T>A
NM_000321.2:c.580T>A , LRG_517t1:c.580T>A	NP_000312.2:p.Ser194Thr
XM_011535171.1:c.319T>A	XP_011533473.1:p.Ser107Thr
XM_011535171.2:c.319T>A	XP_011533473.1:p.Ser107Thr
NM_000321.3:c.580T>A MANE Select	NP_000312.2:p.Ser194Thr