Canonical Allele Identifier: CA483557525
Gene: RB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.48923113T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48348977T>G , CM000675.2:g.48348977T>G GRCh38
NC_000013.10:g.48923113T>G , CM000675.1:g.48923113T>G GRCh37
NC_000013.9:g.47821114T>G NCBI36
NG_009009.1:g.50231T>G , LRG_517:g.50231T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.561T>G MANE Select ENSP00000267163.4:p.Ser187=
ENST00000650461.1:c.561T>G ENSP00000497193.1:p.Ser187=
ENST00000267163.4:c.561T>G ENSP00000267163.4:p.Ser187=
ENST00000467505.5:c.138-11040T>G ENSP00000434702.1:n.138-11040T>G
ENST00000525036.1:n.723T>G
NM_000321.2:c.561T>G , LRG_517t1:c.561T>G NP_000312.2:p.Ser187=
XM_011535171.1:c.300T>G XP_011533473.1:p.Ser100=
XM_011535171.2:c.300T>G XP_011533473.1:p.Ser100=
NM_000321.3:c.561T>G MANE Select NP_000312.2:p.Ser187=