Canonical Allele Identifier: CA16614016
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 410940
ClinVar RCV Id: RCV000471747
dbSNP Id: rs1060503088
MyVariant Identifiers: chr13:g.49027117T>G (hg19) chr13:g.48452981T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48452981T>G , CM000675.2:g.48452981T>G GRCh38
NC_000013.10:g.49027117T>G , CM000675.1:g.49027117T>G GRCh37
NC_000013.9:g.47925118T>G NCBI36
NG_009009.1:g.154235T>G , LRG_517:g.154235T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.1696-12T>G MANE Select ENSP00000267163.4:n.1696-12T>G
ENST00000643064.1:c.194+71538T>G
ENST00000650461.1:c.1696-12T>G ENSP00000497193.1:n.1696-12T>G
ENST00000267163.4:c.1696-12T>G ENSP00000267163.4:n.1696-12T>G
ENST00000480491.1:n.395-12T>G
NM_000321.2:c.1696-12T>G , LRG_517t1:c.1696-12T>G NP_000312.2:n.1696-12T>G
XM_011535171.1:c.1435-12T>G XP_011533473.1:n.1435-12T>G
XM_011535171.2:c.1435-12T>G XP_011533473.1:n.1435-12T>G
NM_000321.3:c.1696-12T>G MANE Select NP_000312.2:n.1696-12T>G
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