Canonical Allele Identifier: CA16614051
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 410931
ClinVar RCV Id: RCV000461185
dbSNP Id: rs1060503081
gnomAD v4: 13-48381254-A-G
MyVariant Identifiers: chr13:g.48955390A>G (hg19) chr13:g.48381254A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48381254A>G , CM000675.2:g.48381254A>G GRCh38
NC_000013.10:g.48955390A>G , CM000675.1:g.48955390A>G GRCh37
NC_000013.9:g.47853391A>G NCBI36
NG_009009.1:g.82508A>G , LRG_517:g.82508A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.1506A>G MANE Select ENSP00000267163.4:p.Thr502=
ENST00000643064.1:c.5A>G
ENST00000650461.1:c.1506A>G ENSP00000497193.1:p.Thr502=
ENST00000267163.4:c.1506A>G ENSP00000267163.4:p.Thr502=
NM_000321.2:c.1506A>G , LRG_517t1:c.1506A>G NP_000312.2:p.Thr502=
XM_011535171.1:c.1245A>G XP_011533473.1:p.Thr415=
XM_011535171.2:c.1245A>G XP_011533473.1:p.Thr415=
NM_000321.3:c.1506A>G MANE Select NP_000312.2:p.Thr502=
Search 100 bp 5'
Search 100 bp 3'