Canonical Allele Identifier: CA10583158
Community Standard Title: NM_000321.3(RB1):c.1154T>G (p.Leu385Ter)
Gene: RB1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48373431T>G , CM000675.2:g.48373431T>G GRCh38
NC_000013.10:g.48947567T>G , CM000675.1:g.48947567T>G GRCh37
NC_000013.9:g.47845568T>G NCBI36
NG_009009.1:g.74685T>G , LRG_517:g.74685T>G

Transcript Alleles

HGVS Amino-acid Change
NM_000321.3:c.1154T>G MANE Select NP_000312.2:p.Leu385Ter
ENST00000267163.6:c.1154T>G MANE Select ENSP00000267163.4:p.Leu385Ter
NM_000321.2:c.1154T>G , LRG_517t1:c.1154T>G NP_000312.2:p.Leu385Ter
ENST00000267163.4:c.1154T>G ENSP00000267163.4:p.Leu385Ter
ENST00000650461.1:c.1154T>G ENSP00000497193.1:p.Leu385Ter
XM_011535171.1:c.893T>G XP_011533473.1:p.Leu298Ter
XM_011535171.2:c.893T>G XP_011533473.1:p.Leu298Ter
XR_002957522.1:n.121+729A>C
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