Canonical Allele Identifier: CA388250142
Gene: RB1 HGNC NCBI

Linked Data

dbSNP Id: rs2138026976

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48303917C>T , CM000675.2:g.48303917C>T GRCh38
NC_000013.10:g.48878053C>T , CM000675.1:g.48878053C>T GRCh37
NC_000013.9:g.47776054C>T NCBI36
NG_009009.1:g.5171C>T , LRG_517:g.5171C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.5C>T MANE Select ENSP00000267163.4:p.Pro2Leu
ENST00000646097.1:c.5C>T ENSP00000496556.1:p.Pro2Leu
ENST00000650461.1:c.5C>T ENSP00000497193.1:p.Pro2Leu
ENST00000267163.4:c.5C>T ENSP00000267163.4:p.Pro2Leu
ENST00000467505.5:c.5C>T ENSP00000434702.1:p.Pro2Leu
ENST00000525036.1:n.167C>T
NM_000321.2:c.5C>T , LRG_517t1:c.5C>T NP_000312.2:p.Pro2Leu
NM_000321.3:c.5C>T MANE Select NP_000312.2:p.Pro2Leu