Canonical Allele Identifier: CA388161721

Gene: RB1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48373494T>A , CM000675.2:g.48373494T>A	GRCh38
NC_000013.10:g.48947630T>A , CM000675.1:g.48947630T>A	GRCh37
NC_000013.9:g.47845631T>A	NCBI36
NG_009009.1:g.74748T>A , LRG_517:g.74748T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1215+2T>A MANE Select	ENSP00000267163.4:n.1215+2T>A
ENST00000650461.1:c.1215+2T>A	ENSP00000497193.1:n.1215+2T>A
ENST00000267163.4:c.1215+2T>A	ENSP00000267163.4:n.1215+2T>A
NM_000321.2:c.1215+2T>A , LRG_517t1:c.1215+2T>A	NP_000312.2:n.1215+2T>A
XM_011535171.1:c.954+2T>A	XP_011533473.1:n.954+2T>A
XM_011535171.2:c.954+2T>A	XP_011533473.1:n.954+2T>A
XR_002957522.1:n.121+666A>T
NM_000321.3:c.1215+2T>A MANE Select	NP_000312.2:n.1215+2T>A