Canonical Allele Identifier: CA388163553

Gene: RB1

Linked Data

• ClinVar Variation Id: 2137499
• ClinVar RCV Id: RCV003058415
• MyVariant Identifiers: chr13:g.48955452T>G (hg19) ; chr13:g.48381316T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48381316T>G , CM000675.2:g.48381316T>G	GRCh38
NC_000013.10:g.48955452T>G , CM000675.1:g.48955452T>G	GRCh37
NC_000013.9:g.47853453T>G	NCBI36
NG_009009.1:g.82570T>G , LRG_517:g.82570T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1568T>G MANE Select	ENSP00000267163.4:p.Leu523Ter
ENST00000643064.1:c.67T>G
ENST00000650461.1:c.1568T>G	ENSP00000497193.1:p.Leu523Ter
ENST00000267163.4:c.1568T>G	ENSP00000267163.4:p.Leu523Ter
NM_000321.2:c.1568T>G , LRG_517t1:c.1568T>G	NP_000312.2:p.Leu523Ter
XM_011535171.1:c.1307T>G	XP_011533473.1:p.Leu436Ter
XM_011535171.2:c.1307T>G	XP_011533473.1:p.Leu436Ter
NM_000321.3:c.1568T>G MANE Select	NP_000312.2:p.Leu523Ter