Canonical Allele Identifier: CA038899

Gene: RB1

Linked Data

• dbSNP Id: rs556436874
• ExAC: 13:48923149 A / G
• gnomAD v2: 13-48923149-A-G
• gnomAD v3: 13-48349013-A-G
• gnomAD v4: 13-48349013-A-G
• MyVariant Identifiers: chr13:g.48923149A>G (hg19) ; chr13:g.48349013A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48349013A>G , CM000675.2:g.48349013A>G	GRCh38
NC_000013.10:g.48923149A>G , CM000675.1:g.48923149A>G	GRCh37
NC_000013.9:g.47821150A>G	NCBI36
NG_009009.1:g.50267A>G , LRG_517:g.50267A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000267163.6:c.597A>G MANE Select	ENSP00000267163.4:p.Leu199=
ENST00000650461.1:c.597A>G	ENSP00000497193.1:p.Leu199=
ENST00000267163.4:c.597A>G	ENSP00000267163.4:p.Leu199=
ENST00000467505.5:c.138-11004A>G	ENSP00000434702.1:n.138-11004A>G
ENST00000525036.1:n.759A>G
NM_000321.2:c.597A>G , LRG_517t1:c.597A>G	NP_000312.2:p.Leu199=
XM_011535171.1:c.336A>G	XP_011533473.1:p.Leu112=
XM_011535171.2:c.336A>G	XP_011533473.1:p.Leu112=
NM_000321.3:c.597A>G MANE Select	NP_000312.2:p.Leu199=