Canonical Allele Identifier: CA038226

Gene: RB1

Linked Data

• ClinVar Variation Id: 458169
• ClinVar RCV Id: RCV000528113 ; RCV001022812 ; RCV001545276 ; RCV003905338
• dbSNP Id: rs369830657
• ExAC: 13:48919297 G / A
• gnomAD v2: 13-48919297-G-A
• gnomAD v3: 13-48345161-G-A
• gnomAD v4: 13-48345161-G-A
• MyVariant Identifiers: chr13:g.48919297G>A (hg19) ; chr13:g.48345161G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48345161G>A , CM000675.2:g.48345161G>A	GRCh38
NC_000013.10:g.48919297G>A , CM000675.1:g.48919297G>A	GRCh37
NC_000013.9:g.47817298G>A	NCBI36
NG_009009.1:g.46415G>A , LRG_517:g.46415G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.462G>A MANE Select	ENSP00000267163.4:p.Lys154=
ENST00000650461.1:c.462G>A	ENSP00000497193.1:p.Lys154=
ENST00000267163.4:c.462G>A	ENSP00000267163.4:p.Lys154=
ENST00000467505.5:c.138-14856G>A	ENSP00000434702.1:n.138-14856G>A
ENST00000525036.1:n.624G>A
NM_000321.2:c.462G>A , LRG_517t1:c.462G>A	NP_000312.2:p.Lys154=
XM_011535171.1:c.201G>A	XP_011533473.1:p.Lys67=
XM_011535171.2:c.201G>A	XP_011533473.1:p.Lys67=
NM_000321.3:c.462G>A MANE Select	NP_000312.2:p.Lys154=