Canonical Allele Identifier: CA2090014310
Community Standard Title: NM_000321.3(RB1):c.1814+394G=
Gene: RB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48453505G= , CM000675.2:g.48453505G= GRCh38
NC_000013.10:g.49027641G= , CM000675.1:g.49027641G= GRCh37
NC_000013.9:g.47925642G= NCBI36
NG_009009.1:g.154759G= , LRG_517:g.154759G=

Transcript Alleles

HGVS Amino-acid Change
NM_000321.3:c.1814+394G= MANE Select NP_000312.2:n.1814+394G=
ENST00000267163.6:c.1814+394G= MANE Select ENSP00000267163.4:n.1814+394G=
NM_000321.2:c.1814+394G= , LRG_517t1:c.1814+394G= NP_000312.2:n.1814+394G=
ENST00000267163.4:c.1814+394G= ENSP00000267163.4:n.1814+394G=
ENST00000480491.1:n.513+394G=
ENST00000643064.1:c.194+72062G=
ENST00000650461.1:c.1814+394G= ENSP00000497193.1:n.1814+394G=
XM_011535171.1:c.1553+394G= XP_011533473.1:n.1553+394G=
XM_011535171.2:c.1553+394G= XP_011533473.1:n.1553+394G=