Canonical Allele Identifier: CA2090019256
Gene: RB1 HGNC NCBI

Linked Data

dbSNP Id: rs1949381311

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48459361T>A , CM000675.2:g.48459361T>A GRCh38
NC_000013.10:g.49033497T>A , CM000675.1:g.49033497T>A GRCh37
NC_000013.9:g.47931498T>A NCBI36
NG_009009.1:g.160615T>A , LRG_517:g.160615T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.1961-327T>A MANE Select ENSP00000267163.4:n.1961-327T>A
ENST00000643064.1:c.194+77918T>A
ENST00000650461.1:c.1961-327T>A ENSP00000497193.1:n.1961-327T>A
ENST00000267163.4:c.1961-327T>A ENSP00000267163.4:n.1961-327T>A
NM_000321.2:c.1961-327T>A , LRG_517t1:c.1961-327T>A NP_000312.2:n.1961-327T>A
XM_011535171.1:c.1700-327T>A XP_011533473.1:n.1700-327T>A
XM_011535171.2:c.1700-327T>A XP_011533473.1:n.1700-327T>A
NM_000321.3:c.1961-327T>A MANE Select NP_000312.2:n.1961-327T>A