Canonical Allele Identifier: CA032310

Gene: RB1

Linked Data

• ClinVar Variation Id: 312290
• ClinVar RCV Id: RCV000342053 ; RCV001012678
• dbSNP Id: rs143685082
• ExAC: 13:49027125 A / G
• gnomAD v2: 13-49027125-A-G
• gnomAD v3: 13-48452989-A-G
• gnomAD v4: 13-48452989-A-G
• MyVariant Identifiers: chr13:g.49027125A>G (hg19) ; chr13:g.48452989A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48452989A>G , CM000675.2:g.48452989A>G	GRCh38
NC_000013.10:g.49027125A>G , CM000675.1:g.49027125A>G	GRCh37
NC_000013.9:g.47925126A>G	NCBI36
NG_009009.1:g.154243A>G , LRG_517:g.154243A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1696-4A>G MANE Select	ENSP00000267163.4:n.1696-4A>G
ENST00000643064.1:c.194+71546A>G
ENST00000650461.1:c.1696-4A>G	ENSP00000497193.1:n.1696-4A>G
ENST00000267163.4:c.1696-4A>G	ENSP00000267163.4:n.1696-4A>G
ENST00000480491.1:n.395-4A>G
NM_000321.2:c.1696-4A>G , LRG_517t1:c.1696-4A>G	NP_000312.2:n.1696-4A>G
XM_011535171.1:c.1435-4A>G	XP_011533473.1:n.1435-4A>G
XM_011535171.2:c.1435-4A>G	XP_011533473.1:n.1435-4A>G
NM_000321.3:c.1696-4A>G MANE Select	NP_000312.2:n.1696-4A>G