Canonical Allele Identifier: CA249269407

Gene: RB1

Linked Data

• ClinVar Variation Id: 458175
• ClinVar RCV Id: RCV000531975
• dbSNP Id: rs1012377281
• gnomAD v4: 13-48349023-G-T
• MyVariant Identifiers: chr13:g.48923159G>T (hg19) ; chr13:g.48349023G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48349023G>T , CM000675.2:g.48349023G>T	GRCh38
NC_000013.10:g.48923159G>T , CM000675.1:g.48923159G>T	GRCh37
NC_000013.9:g.47821160G>T	NCBI36
NG_009009.1:g.50277G>T , LRG_517:g.50277G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000267163.6:c.607G>T MANE Select	ENSP00000267163.4:p.Gly203Trp
ENST00000650461.1:c.607G>T	ENSP00000497193.1:p.Gly203Trp
ENST00000267163.4:c.607G>T	ENSP00000267163.4:p.Gly203Trp
ENST00000467505.5:c.138-10994G>T	ENSP00000434702.1:n.138-10994G>T
ENST00000525036.1:n.769G>T
NM_000321.2:c.607G>T , LRG_517t1:c.607G>T	NP_000312.2:p.Gly203Trp
XM_011535171.1:c.346G>T	XP_011533473.1:p.Gly116Trp
XM_011535171.2:c.346G>T	XP_011533473.1:p.Gly116Trp
NM_000321.3:c.607G>T MANE Select	NP_000312.2:p.Gly203Trp