Canonical Allele Identifier: CA388252482

Gene: RB1

Linked Data

• dbSNP Id: rs2138083922
• MyVariant Identifiers: chr13:g.48916810T>A (hg19) ; chr13:g.48342674T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48342674T>A , CM000675.2:g.48342674T>A	GRCh38
NC_000013.10:g.48916810T>A , CM000675.1:g.48916810T>A	GRCh37
NC_000013.9:g.47814811T>A	NCBI36
NG_009009.1:g.43928T>A , LRG_517:g.43928T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.340T>A MANE Select	ENSP00000267163.4:p.Ser114Thr
ENST00000650461.1:c.340T>A	ENSP00000497193.1:p.Ser114Thr
ENST00000267163.4:c.340T>A	ENSP00000267163.4:p.Ser114Thr
ENST00000467505.5:c.138-17343T>A	ENSP00000434702.1:n.138-17343T>A
ENST00000525036.1:n.502T>A
NM_000321.2:c.340T>A , LRG_517t1:c.340T>A	NP_000312.2:p.Ser114Thr
XM_011535171.1:c.79T>A	XP_011533473.1:p.Ser27Thr
XM_011535171.2:c.79T>A	XP_011533473.1:p.Ser27Thr
NM_000321.3:c.340T>A MANE Select	NP_000312.2:p.Ser114Thr