Canonical Allele Identifier: CA483558996
Gene: RB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.49033858T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48459722T>G , CM000675.2:g.48459722T>G GRCh38
NC_000013.10:g.49033858T>G , CM000675.1:g.49033858T>G GRCh37
NC_000013.9:g.47931859T>G NCBI36
NG_009009.1:g.160976T>G , LRG_517:g.160976T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.1995T>G MANE Select ENSP00000267163.4:p.Leu665=
ENST00000643064.1:c.194+78279T>G
ENST00000650461.1:c.1995T>G ENSP00000497193.1:p.Leu665=
ENST00000267163.4:c.1995T>G ENSP00000267163.4:p.Leu665=
NM_000321.2:c.1995T>G , LRG_517t1:c.1995T>G NP_000312.2:p.Leu665=
XM_011535171.1:c.1734T>G XP_011533473.1:p.Leu578=
XM_011535171.2:c.1734T>G XP_011533473.1:p.Leu578=
NM_000321.3:c.1995T>G MANE Select NP_000312.2:p.Leu665=