Canonical Allele Identifier: CA388157283
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1036705
ClinVar RCV Id: RCV001339753 RCV002431949
dbSNP Id: rs1032510984
gnomAD v2: 13-49050885-C-G
gnomAD v4: 13-48476749-C-G
MyVariant Identifiers: chr13:g.49050885C>G (hg19) chr13:g.48476749C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48476749C>G , CM000675.2:g.48476749C>G GRCh38
NC_000013.10:g.49050885C>G , CM000675.1:g.49050885C>G GRCh37
NC_000013.9:g.47948886C>G NCBI36
NG_009009.1:g.178003C>G , LRG_517:g.178003C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.2569C>G MANE Select ENSP00000267163.4:p.Arg857Gly
ENST00000643064.1:c.194+95306C>G
ENST00000650461.1:c.2569C>G ENSP00000497193.1:p.Arg857Gly
ENST00000267163.4:c.2569C>G ENSP00000267163.4:p.Arg857Gly
ENST00000484879.1:n.303C>G
ENST00000531171.5:n.172C>G
NM_000321.2:c.2569C>G , LRG_517t1:c.2569C>G NP_000312.2:p.Arg857Gly
XM_011535171.1:c.2308C>G XP_011533473.1:p.Arg770Gly
XM_011535171.2:c.2308C>G XP_011533473.1:p.Arg770Gly
NM_000321.3:c.2569C>G MANE Select NP_000312.2:p.Arg857Gly
Search 100 bp 5'
Search 100 bp 3'