Canonical Allele Identifier: CA16614016

Gene: RB1

Linked Data

• ClinVar Variation Id: 410940
• ClinVar RCV Id: RCV000471747
• dbSNP Id: rs1060503088
• MyVariant Identifiers: chr13:g.49027117T>G (hg19) ; chr13:g.48452981T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48452981T>G , CM000675.2:g.48452981T>G	GRCh38
NC_000013.10:g.49027117T>G , CM000675.1:g.49027117T>G	GRCh37
NC_000013.9:g.47925118T>G	NCBI36
NG_009009.1:g.154235T>G , LRG_517:g.154235T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1696-12T>G MANE Select	ENSP00000267163.4:n.1696-12T>G
ENST00000643064.1:c.194+71538T>G
ENST00000650461.1:c.1696-12T>G	ENSP00000497193.1:n.1696-12T>G
ENST00000267163.4:c.1696-12T>G	ENSP00000267163.4:n.1696-12T>G
ENST00000480491.1:n.395-12T>G
NM_000321.2:c.1696-12T>G , LRG_517t1:c.1696-12T>G	NP_000312.2:n.1696-12T>G
XM_011535171.1:c.1435-12T>G	XP_011533473.1:n.1435-12T>G
XM_011535171.2:c.1435-12T>G	XP_011533473.1:n.1435-12T>G
NM_000321.3:c.1696-12T>G MANE Select	NP_000312.2:n.1696-12T>G