Canonical Allele Identifier: CA036169

Gene: RB1

Linked Data

• ClinVar Variation Id: 416490
• ClinVar RCV Id: RCV000467622 ; RCV000492588 ; RCV000761059 ; RCV001555707 ; RCV001821379 ; RCV003925378
• dbSNP Id: rs149359120
• ExAC: 13:49050882 G / A
• gnomAD v2: 13-49050882-G-A
• gnomAD v3: 13-48476746-G-A
• gnomAD v4: 13-48476746-G-A
• MyVariant Identifiers: chr13:g.49050882G>A (hg19) ; chr13:g.48476746G>A (hg38)
• PubMed: PMID:22180099 ; PMID:23532519

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48476746G>A , CM000675.2:g.48476746G>A	GRCh38
NC_000013.10:g.49050882G>A , CM000675.1:g.49050882G>A	GRCh37
NC_000013.9:g.47948883G>A	NCBI36
NG_009009.1:g.178000G>A , LRG_517:g.178000G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2566G>A MANE Select	ENSP00000267163.4:p.Asp856Asn
ENST00000643064.1:c.194+95303G>A
ENST00000650461.1:c.2566G>A	ENSP00000497193.1:p.Asp856Asn
ENST00000267163.4:c.2566G>A	ENSP00000267163.4:p.Asp856Asn
ENST00000484879.1:n.300G>A
ENST00000531171.5:n.169G>A
NM_000321.2:c.2566G>A , LRG_517t1:c.2566G>A	NP_000312.2:p.Asp856Asn
XM_011535171.1:c.2305G>A	XP_011533473.1:p.Asp769Asn
XM_011535171.2:c.2305G>A	XP_011533473.1:p.Asp769Asn
NM_000321.3:c.2566G>A MANE Select	NP_000312.2:p.Asp856Asn