Canonical Allele Identifier: CA028530

Gene: RB1

Linked Data

• ClinVar Variation Id: 255821
• ClinVar RCV Id: RCV000242334 ; RCV000372212 ; RCV002392760 ; RCV001705333
• dbSNP Id: rs200658795
• ExAC: 13:48954178 A / G
• gnomAD v2: 13-48954178-A-G
• gnomAD v3: 13-48380042-A-G
• gnomAD v4: 13-48380042-A-G
• MyVariant Identifiers: chr13:g.48954178A>G (hg19) ; chr13:g.48380042A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48380042A>G , CM000675.2:g.48380042A>G	GRCh38
NC_000013.10:g.48954178A>G , CM000675.1:g.48954178A>G	GRCh37
NC_000013.9:g.47852179A>G	NCBI36
NG_009009.1:g.81296A>G , LRG_517:g.81296A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1390-11A>G MANE Select	ENSP00000267163.4:n.1390-11A>G
ENST00000650461.1:c.1390-11A>G	ENSP00000497193.1:n.1390-11A>G
ENST00000267163.4:c.1390-11A>G	ENSP00000267163.4:n.1390-11A>G
NM_000321.2:c.1390-11A>G , LRG_517t1:c.1390-11A>G	NP_000312.2:n.1390-11A>G
XM_011535171.1:c.1129-11A>G	XP_011533473.1:n.1129-11A>G
XM_011535171.2:c.1129-11A>G	XP_011533473.1:n.1129-11A>G
NM_000321.3:c.1390-11A>G MANE Select	NP_000312.2:n.1390-11A>G