Canonical Allele Identifier: CA388252332

Gene: RB1

Linked Data

• ClinVar Variation Id: 458162
• ClinVar RCV Id: RCV000537741 ; RCV000763898
• dbSNP Id: rs1555282772
• MyVariant Identifiers: chr13:g.48916746T>G (hg19) ; chr13:g.48342610T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48342610T>G , CM000675.2:g.48342610T>G	GRCh38
NC_000013.10:g.48916746T>G , CM000675.1:g.48916746T>G	GRCh37
NC_000013.9:g.47814747T>G	NCBI36
NG_009009.1:g.43864T>G , LRG_517:g.43864T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.276T>G MANE Select	ENSP00000267163.4:p.Ile92Met
ENST00000650461.1:c.276T>G	ENSP00000497193.1:p.Ile92Met
ENST00000267163.4:c.276T>G	ENSP00000267163.4:p.Ile92Met
ENST00000467505.5:c.138-17407T>G	ENSP00000434702.1:n.138-17407T>G
ENST00000525036.1:n.438T>G
NM_000321.2:c.276T>G , LRG_517t1:c.276T>G	NP_000312.2:p.Ile92Met
XM_011535171.1:c.15T>G	XP_011533473.1:p.Ile5Met
XM_011535171.2:c.15T>G	XP_011533473.1:p.Ile5Met
NM_000321.3:c.276T>G MANE Select	NP_000312.2:p.Ile92Met