Canonical Allele Identifier: CA658798139

Gene: RB1

Linked Data

• ClinVar Variation Id: 527904
• ClinVar RCV Id: RCV000632932
• dbSNP Id: rs1555282811
• MyVariant Identifiers: chr13:g.48916853A>T (hg19) ; chr13:g.48342717A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48342717A>T , CM000675.2:g.48342717A>T	GRCh38
NC_000013.10:g.48916853A>T , CM000675.1:g.48916853A>T	GRCh37
NC_000013.9:g.47814854A>T	NCBI36
NG_009009.1:g.43971A>T , LRG_517:g.43971A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.380+3A>T MANE Select	ENSP00000267163.4:n.380+3A>T
ENST00000650461.1:c.380+3A>T	ENSP00000497193.1:n.380+3A>T
ENST00000267163.4:c.380+3A>T	ENSP00000267163.4:n.380+3A>T
ENST00000467505.5:c.138-17300A>T	ENSP00000434702.1:n.138-17300A>T
ENST00000525036.1:n.542+3A>T
NM_000321.2:c.380+3A>T , LRG_517t1:c.380+3A>T	NP_000312.2:n.380+3A>T
XM_011535171.1:c.119+3A>T	XP_011533473.1:n.119+3A>T
XM_011535171.2:c.119+3A>T	XP_011533473.1:n.119+3A>T
NM_000321.3:c.380+3A>T MANE Select	NP_000312.2:n.380+3A>T