Canonical Allele Identifier: CA2799116824
Gene: RB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48303774G>C , CM000675.2:g.48303774G>C GRCh38
NC_000013.10:g.48877910G>C , CM000675.1:g.48877910G>C GRCh37
NC_000013.9:g.47775911G>C NCBI36
NG_009009.1:g.5028G>C , LRG_517:g.5028G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.-139G>C MANE Select ENSP00000267163.4:n.-139G>C
ENST00000646097.1:c.-139G>C ENSP00000496556.1:n.-139G>C
ENST00000650461.1:c.-139G>C ENSP00000497193.1:n.-139G>C
ENST00000525036.1:n.24G>C
NM_000321.2:c.-139G>C , LRG_517t1:c.-139G>C NP_000312.2:n.-139G>C
NM_000321.3:c.-139G>C MANE Select NP_000312.2:n.-139G>C