Canonical Allele Identifier: CA037060

Gene: RB1

Linked Data

• ClinVar Variation Id: 458158
• ClinVar RCV Id: RCV000559096 ; RCV000763897 ; RCV003470733 ; RCV002438313
• dbSNP Id: rs554727080
• ExAC: 13:48916739 G / T
• gnomAD v2: 13-48916739-G-T
• gnomAD v3: 13-48342603-G-T
• gnomAD v4: 13-48342603-G-T
• MyVariant Identifiers: chr13:g.48916739G>T (hg19) ; chr13:g.48342603G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48342603G>T , CM000675.2:g.48342603G>T	GRCh38
NC_000013.10:g.48916739G>T , CM000675.1:g.48916739G>T	GRCh37
NC_000013.9:g.47814740G>T	NCBI36
NG_009009.1:g.43857G>T , LRG_517:g.43857G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.269G>T MANE Select	ENSP00000267163.4:p.Gly90Val
ENST00000650461.1:c.269G>T	ENSP00000497193.1:p.Gly90Val
ENST00000267163.4:c.269G>T	ENSP00000267163.4:p.Gly90Val
ENST00000467505.5:c.138-17414G>T	ENSP00000434702.1:n.138-17414G>T
ENST00000525036.1:n.431G>T
NM_000321.2:c.269G>T , LRG_517t1:c.269G>T	NP_000312.2:p.Gly90Val
XM_011535171.1:c.8G>T	XP_011533473.1:p.Gly3Val
XM_011535171.2:c.8G>T	XP_011533473.1:p.Gly3Val
NM_000321.3:c.269G>T MANE Select	NP_000312.2:p.Gly90Val