Canonical Allele Identifier: CA026415

Gene: RB1

Linked Data

• ClinVar Variation Id: 41683
• ClinVar RCV Id: RCV000034595 ; RCV000566730 ; RCV001085189 ; RCV002281727 ; RCV003153323 ; RCV003944881
• dbSNP Id: rs142509759
• ExAC: 13:49033829 C / T
• gnomAD v2: 13-49033829-C-T
• gnomAD v3: 13-48459693-C-T
• gnomAD v4: 13-48459693-C-T
• COSMIC: COSM5574308
• MyVariant Identifiers: chr13:g.49033829C>T (hg19) ; chr13:g.48459693C>T (hg38)
• PubMed: PMID:12541220 ; PMID:22703879 ; PMID:24082139 ; PMID:24448499 ; PMID:24688104

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48459693C>T , CM000675.2:g.48459693C>T	GRCh38
NC_000013.10:g.49033829C>T , CM000675.1:g.49033829C>T	GRCh37
NC_000013.9:g.47931830C>T	NCBI36
NG_009009.1:g.160947C>T , LRG_517:g.160947C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1966C>T MANE Select	ENSP00000267163.4:p.Arg656Trp
ENST00000643064.1:c.194+78250C>T
ENST00000650461.1:c.1966C>T	ENSP00000497193.1:p.Arg656Trp
ENST00000267163.4:c.1966C>T	ENSP00000267163.4:p.Arg656Trp
NM_000321.2:c.1966C>T , LRG_517t1:c.1966C>T	NP_000312.2:p.Arg656Trp
XM_011535171.1:c.1705C>T	XP_011533473.1:p.Arg569Trp
XM_011535171.2:c.1705C>T	XP_011533473.1:p.Arg569Trp
NM_000321.3:c.1966C>T MANE Select	NP_000312.2:p.Arg656Trp