Canonical Allele Identifier: CA16614317
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 416485
ClinVar RCV Id: RCV000465774
dbSNP Id: rs200501806

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48459682C>T , CM000675.2:g.48459682C>T GRCh38
NC_000013.10:g.49033818C>T , CM000675.1:g.49033818C>T GRCh37
NC_000013.9:g.47931819C>T NCBI36
NG_009009.1:g.160936C>T , LRG_517:g.160936C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.1961-6C>T MANE Select ENSP00000267163.4:n.1961-6C>T
ENST00000643064.1:c.194+78239C>T
ENST00000650461.1:c.1961-6C>T ENSP00000497193.1:n.1961-6C>T
ENST00000267163.4:c.1961-6C>T ENSP00000267163.4:n.1961-6C>T
NM_000321.2:c.1961-6C>T , LRG_517t1:c.1961-6C>T NP_000312.2:n.1961-6C>T
XM_011535171.1:c.1700-6C>T XP_011533473.1:n.1700-6C>T
XM_011535171.2:c.1700-6C>T XP_011533473.1:n.1700-6C>T
NM_000321.3:c.1961-6C>T MANE Select NP_000312.2:n.1961-6C>T