Canonical Allele Identifier: CA388156996
Gene: RB1 HGNC NCBI

Linked Data

COSMIC: COSM317958 COSM5662480
MyVariant Identifiers: chr13:g.48923148T>G (hg19) chr13:g.48349012T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48349012T>G , CM000675.2:g.48349012T>G GRCh38
NC_000013.10:g.48923148T>G , CM000675.1:g.48923148T>G GRCh37
NC_000013.9:g.47821149T>G NCBI36
NG_009009.1:g.50266T>G , LRG_517:g.50266T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.596T>G MANE Select ENSP00000267163.4:p.Leu199Ter
ENST00000650461.1:c.596T>G ENSP00000497193.1:p.Leu199Ter
ENST00000267163.4:c.596T>G ENSP00000267163.4:p.Leu199Ter
ENST00000467505.5:c.138-11005T>G ENSP00000434702.1:n.138-11005T>G
ENST00000525036.1:n.758T>G
NM_000321.2:c.596T>G , LRG_517t1:c.596T>G NP_000312.2:p.Leu199Ter
XM_011535171.1:c.335T>G XP_011533473.1:p.Leu112Ter
XM_011535171.2:c.335T>G XP_011533473.1:p.Leu112Ter
NM_000321.3:c.596T>G MANE Select NP_000312.2:p.Leu199Ter
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