Canonical Allele Identifier: CA388156936

Gene: RB1

Linked Data

• dbSNP Id: rs2138093569
• gnomAD v4: 13-48348984-G-A
• MyVariant Identifiers: chr13:g.48923120G>A (hg19) ; chr13:g.48348984G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48348984G>A , CM000675.2:g.48348984G>A	GRCh38
NC_000013.10:g.48923120G>A , CM000675.1:g.48923120G>A	GRCh37
NC_000013.9:g.47821121G>A	NCBI36
NG_009009.1:g.50238G>A , LRG_517:g.50238G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.568G>A MANE Select	ENSP00000267163.4:p.Val190Met
ENST00000650461.1:c.568G>A	ENSP00000497193.1:p.Val190Met
ENST00000267163.4:c.568G>A	ENSP00000267163.4:p.Val190Met
ENST00000467505.5:c.138-11033G>A	ENSP00000434702.1:n.138-11033G>A
ENST00000525036.1:n.730G>A
NM_000321.2:c.568G>A , LRG_517t1:c.568G>A	NP_000312.2:p.Val190Met
XM_011535171.1:c.307G>A	XP_011533473.1:p.Val103Met
XM_011535171.2:c.307G>A	XP_011533473.1:p.Val103Met
NM_000321.3:c.568G>A MANE Select	NP_000312.2:p.Val190Met