Canonical Allele Identifier: CA388168253

Gene: RB1

Linked Data

• ClinVar Variation Id: 1792952
• ClinVar RCV Id: RCV002434955
• MyVariant Identifiers: chr13:g.49050867A>G (hg19) ; chr13:g.48476731A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48476731A>G , CM000675.2:g.48476731A>G	GRCh38
NC_000013.10:g.49050867A>G , CM000675.1:g.49050867A>G	GRCh37
NC_000013.9:g.47948868A>G	NCBI36
NG_009009.1:g.177985A>G , LRG_517:g.177985A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2551A>G MANE Select	ENSP00000267163.4:p.Met851Val
ENST00000643064.1:c.194+95288A>G
ENST00000650461.1:c.2551A>G	ENSP00000497193.1:p.Met851Val
ENST00000267163.4:c.2551A>G	ENSP00000267163.4:p.Met851Val
ENST00000484879.1:n.285A>G
ENST00000531171.5:n.154A>G
NM_000321.2:c.2551A>G , LRG_517t1:c.2551A>G	NP_000312.2:p.Met851Val
XM_011535171.1:c.2290A>G	XP_011533473.1:p.Met764Val
XM_011535171.2:c.2290A>G	XP_011533473.1:p.Met764Val
NM_000321.3:c.2551A>G MANE Select	NP_000312.2:p.Met851Val