Canonical Allele Identifier: CA388163527

Gene: RB1

Linked Data

• ClinVar Variation Id: 2698332
• ClinVar RCV Id: RCV003515313
• dbSNP Id: rs2138145128
• MyVariant Identifiers: chr13:g.48955446T>A (hg19) ; chr13:g.48381310T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48381310T>A , CM000675.2:g.48381310T>A	GRCh38
NC_000013.10:g.48955446T>A , CM000675.1:g.48955446T>A	GRCh37
NC_000013.9:g.47853447T>A	NCBI36
NG_009009.1:g.82564T>A , LRG_517:g.82564T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1562T>A MANE Select	ENSP00000267163.4:p.Leu521His
ENST00000643064.1:c.61T>A
ENST00000650461.1:c.1562T>A	ENSP00000497193.1:p.Leu521His
ENST00000267163.4:c.1562T>A	ENSP00000267163.4:p.Leu521His
NM_000321.2:c.1562T>A , LRG_517t1:c.1562T>A	NP_000312.2:p.Leu521His
XM_011535171.1:c.1301T>A	XP_011533473.1:p.Leu434His
XM_011535171.2:c.1301T>A	XP_011533473.1:p.Leu434His
NM_000321.3:c.1562T>A MANE Select	NP_000312.2:p.Leu521His