Canonical Allele Identifier: CA483559425

Gene: RB1

Linked Data

• ClinVar Variation Id: 705410
• ClinVar RCV Id: RCV001457264 ; RCV002399958
• dbSNP Id: rs879124999
• gnomAD v4: 13-48381284-G-A
• MyVariant Identifiers: chr13:g.48955420G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48381284G>A , CM000675.2:g.48381284G>A	GRCh38
NC_000013.10:g.48955420G>A , CM000675.1:g.48955420G>A	GRCh37
NC_000013.9:g.47853421G>A	NCBI36
NG_009009.1:g.82538G>A , LRG_517:g.82538G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1536G>A MANE Select	ENSP00000267163.4:p.Leu512=
ENST00000643064.1:c.35G>A
ENST00000650461.1:c.1536G>A	ENSP00000497193.1:p.Leu512=
ENST00000267163.4:c.1536G>A	ENSP00000267163.4:p.Leu512=
NM_000321.2:c.1536G>A , LRG_517t1:c.1536G>A	NP_000312.2:p.Leu512=
XM_011535171.1:c.1275G>A	XP_011533473.1:p.Leu425=
XM_011535171.2:c.1275G>A	XP_011533473.1:p.Leu425=
NM_000321.3:c.1536G>A MANE Select	NP_000312.2:p.Leu512=