Canonical Allele Identifier: CA388166707
Gene: RB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48459712T>C , CM000675.2:g.48459712T>C GRCh38
NC_000013.10:g.49033848T>C , CM000675.1:g.49033848T>C GRCh37
NC_000013.9:g.47931849T>C NCBI36
NG_009009.1:g.160966T>C , LRG_517:g.160966T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.1985T>C MANE Select ENSP00000267163.4:p.Leu662Pro
ENST00000643064.1:c.194+78269T>C
ENST00000650461.1:c.1985T>C ENSP00000497193.1:p.Leu662Pro
ENST00000267163.4:c.1985T>C ENSP00000267163.4:p.Leu662Pro
NM_000321.2:c.1985T>C , LRG_517t1:c.1985T>C NP_000312.2:p.Leu662Pro
XM_011535171.1:c.1724T>C XP_011533473.1:p.Leu575Pro
XM_011535171.2:c.1724T>C XP_011533473.1:p.Leu575Pro
NM_000321.3:c.1985T>C MANE Select NP_000312.2:p.Leu662Pro