Canonical Allele Identifier: CA388168260
Gene: RB1 HGNC NCBI

Linked Data

dbSNP Id: rs1949506098

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48476734G>T , CM000675.2:g.48476734G>T GRCh38
NC_000013.10:g.49050870G>T , CM000675.1:g.49050870G>T GRCh37
NC_000013.9:g.47948871G>T NCBI36
NG_009009.1:g.177988G>T , LRG_517:g.177988G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.2554G>T MANE Select ENSP00000267163.4:p.Val852Leu
ENST00000643064.1:c.194+95291G>T
ENST00000650461.1:c.2554G>T ENSP00000497193.1:p.Val852Leu
ENST00000267163.4:c.2554G>T ENSP00000267163.4:p.Val852Leu
ENST00000484879.1:n.288G>T
ENST00000531171.5:n.157G>T
NM_000321.2:c.2554G>T , LRG_517t1:c.2554G>T NP_000312.2:p.Val852Leu
XM_011535171.1:c.2293G>T XP_011533473.1:p.Val765Leu
XM_011535171.2:c.2293G>T XP_011533473.1:p.Val765Leu
NM_000321.3:c.2554G>T MANE Select NP_000312.2:p.Val852Leu