Canonical Allele Identifier: CA2090019341
Gene: RB1 HGNC NCBI

Linked Data

dbSNP Id: rs1949382044

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48459487T>G , CM000675.2:g.48459487T>G GRCh38
NC_000013.10:g.49033623T>G , CM000675.1:g.49033623T>G GRCh37
NC_000013.9:g.47931624T>G NCBI36
NG_009009.1:g.160741T>G , LRG_517:g.160741T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.1961-201T>G MANE Select ENSP00000267163.4:n.1961-201T>G
ENST00000643064.1:c.194+78044T>G
ENST00000650461.1:c.1961-201T>G ENSP00000497193.1:n.1961-201T>G
ENST00000267163.4:c.1961-201T>G ENSP00000267163.4:n.1961-201T>G
NM_000321.2:c.1961-201T>G , LRG_517t1:c.1961-201T>G NP_000312.2:n.1961-201T>G
XM_011535171.1:c.1700-201T>G XP_011533473.1:n.1700-201T>G
XM_011535171.2:c.1700-201T>G XP_011533473.1:n.1700-201T>G
NM_000321.3:c.1961-201T>G MANE Select NP_000312.2:n.1961-201T>G