Canonical Allele Identifier: CA698657726

Gene: RB1

Linked Data

• dbSNP Id: rs1244473915
• gnomAD v4: 13-48345009-A-G
• MyVariant Identifiers: chr13:g.48919145A>G (hg19) ; chr13:g.48345009A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48345009A>G , CM000675.2:g.48345009A>G	GRCh38
NC_000013.10:g.48919145A>G , CM000675.1:g.48919145A>G	GRCh37
NC_000013.9:g.47817146A>G	NCBI36
NG_009009.1:g.46263A>G , LRG_517:g.46263A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.381-71A>G MANE Select	ENSP00000267163.4:n.381-71A>G
ENST00000650461.1:c.381-71A>G	ENSP00000497193.1:n.381-71A>G
ENST00000267163.4:c.381-71A>G	ENSP00000267163.4:n.381-71A>G
ENST00000467505.5:c.138-15008A>G	ENSP00000434702.1:n.138-15008A>G
ENST00000525036.1:n.543-71A>G
NM_000321.2:c.381-71A>G , LRG_517t1:c.381-71A>G	NP_000312.2:n.381-71A>G
XM_011535171.1:c.120-71A>G	XP_011533473.1:n.120-71A>G
XM_011535171.2:c.120-71A>G	XP_011533473.1:n.120-71A>G
NM_000321.3:c.381-71A>G MANE Select	NP_000312.2:n.381-71A>G