Canonical Allele Identifier: CA033234
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 237666
dbSNP Id: rs201697122

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48459676T>C , CM000675.2:g.48459676T>C GRCh38
NC_000013.10:g.49033812T>C , CM000675.1:g.49033812T>C GRCh37
NC_000013.9:g.47931813T>C NCBI36
NG_009009.1:g.160930T>C , LRG_517:g.160930T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.1961-12T>C MANE Select ENSP00000267163.4:p.=
ENST00000643064.1:n.194+78233T>C
ENST00000650461.1:c.1961-12T>C ENSP00000497193.1:p.=
ENST00000267163.4:c.1961-12T>C ENSP00000267163.4:p.=
NM_000321.2:c.1961-12T>C , LRG_517t1:c.1961-12T>C NP_000312.2:p.=
XM_011535171.1:c.1700-12T>C XP_011533473.1:p.=
XM_011535171.2:c.1700-12T>C XP_011533473.1:p.=
NM_000321.3:c.1961-12T>C MANE Select NP_000312.2:p.=