Canonical Allele Identifier: CA026374

Gene: RB1

Linked Data

• ClinVar Variation Id: 167566
• ClinVar RCV Id: RCV000153810 ; RCV000317424 ; RCV000586146 ; RCV002255307
• dbSNP Id: rs9535023
• ExAC: 13:48954175 A / T
• gnomAD v2: 13-48954175-A-T
• gnomAD v3: 13-48380039-A-T
• gnomAD v4: 13-48380039-A-T
• MyVariant Identifiers: chr13:g.48954175A>T (hg19) ; chr13:g.48380039A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48380039A>T , CM000675.2:g.48380039A>T	GRCh38
NC_000013.10:g.48954175A>T , CM000675.1:g.48954175A>T	GRCh37
NC_000013.9:g.47852176A>T	NCBI36
NG_009009.1:g.81293A>T , LRG_517:g.81293A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1390-14A>T MANE Select	ENSP00000267163.4:n.1390-14A>T
ENST00000650461.1:c.1390-14A>T	ENSP00000497193.1:n.1390-14A>T
ENST00000267163.4:c.1390-14A>T	ENSP00000267163.4:n.1390-14A>T
NM_000321.2:c.1390-14A>T , LRG_517t1:c.1390-14A>T	NP_000312.2:n.1390-14A>T
XM_011535171.1:c.1129-14A>T	XP_011533473.1:n.1129-14A>T
XM_011535171.2:c.1129-14A>T	XP_011533473.1:n.1129-14A>T
NM_000321.3:c.1390-14A>T MANE Select	NP_000312.2:n.1390-14A>T