Canonical Allele Identifier: CA388162676

Gene: RB1

Linked Data

• gnomAD v4: 13-48380056-G-T
• MyVariant Identifiers: chr13:g.48954192G>T (hg19) ; chr13:g.48380056G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48380056G>T , CM000675.2:g.48380056G>T	GRCh38
NC_000013.10:g.48954192G>T , CM000675.1:g.48954192G>T	GRCh37
NC_000013.9:g.47852193G>T	NCBI36
NG_009009.1:g.81310G>T , LRG_517:g.81310G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1393G>T MANE Select	ENSP00000267163.4:p.Glu465Ter
ENST00000650461.1:c.1393G>T	ENSP00000497193.1:p.Glu465Ter
ENST00000267163.4:c.1393G>T	ENSP00000267163.4:p.Glu465Ter
NM_000321.2:c.1393G>T , LRG_517t1:c.1393G>T	NP_000312.2:p.Glu465Ter
XM_011535171.1:c.1132G>T	XP_011533473.1:p.Glu378Ter
XM_011535171.2:c.1132G>T	XP_011533473.1:p.Glu378Ter
NM_000321.3:c.1393G>T MANE Select	NP_000312.2:p.Glu465Ter