Canonical Allele Identifier: CA388162843
Gene: RB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.48954337A>C (hg19) chr13:g.48380201A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48380201A>C , CM000675.2:g.48380201A>C GRCh38
NC_000013.10:g.48954337A>C , CM000675.1:g.48954337A>C GRCh37
NC_000013.9:g.47852338A>C NCBI36
NG_009009.1:g.81455A>C , LRG_517:g.81455A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.1458A>C MANE Select ENSP00000267163.4:p.Leu486Phe
ENST00000650461.1:c.1458A>C ENSP00000497193.1:p.Leu486Phe
ENST00000267163.4:c.1458A>C ENSP00000267163.4:p.Leu486Phe
NM_000321.2:c.1458A>C , LRG_517t1:c.1458A>C NP_000312.2:p.Leu486Phe
XM_011535171.1:c.1197A>C XP_011533473.1:p.Leu399Phe
XM_011535171.2:c.1197A>C XP_011533473.1:p.Leu399Phe
NM_000321.3:c.1458A>C MANE Select NP_000312.2:p.Leu486Phe
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