Canonical Allele Identifier: CA388160079
Gene: RB1 HGNC NCBI

Linked Data

dbSNP Id: rs2138116675
MyVariant Identifiers: chr13:g.48939100T>C (hg19) chr13:g.48364964T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48364964T>C , CM000675.2:g.48364964T>C GRCh38
NC_000013.10:g.48939100T>C , CM000675.1:g.48939100T>C GRCh37
NC_000013.9:g.47837101T>C NCBI36
NG_009009.1:g.66218T>C , LRG_517:g.66218T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.932T>C MANE Select ENSP00000267163.4:p.Leu311Pro
ENST00000650461.1:c.932T>C ENSP00000497193.1:p.Leu311Pro
ENST00000267163.4:c.932T>C ENSP00000267163.4:p.Leu311Pro
NM_000321.2:c.932T>C , LRG_517t1:c.932T>C NP_000312.2:p.Leu311Pro
XM_011535171.1:c.671T>C XP_011533473.1:p.Leu224Pro
XM_011535171.2:c.671T>C XP_011533473.1:p.Leu224Pro
XR_002957522.1:n.134A>G
NM_000321.3:c.932T>C MANE Select NP_000312.2:p.Leu311Pro
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