Canonical Allele Identifier: CA388166862

Gene: RB1

Linked Data

• ClinVar Variation Id: 1933259
• ClinVar RCV Id: RCV002635899
• dbSNP Id: rs2138336268
• MyVariant Identifiers: chr13:g.49033919C>A (hg19) ; chr13:g.48459783C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48459783C>A , CM000675.2:g.48459783C>A	GRCh38
NC_000013.10:g.49033919C>A , CM000675.1:g.49033919C>A	GRCh37
NC_000013.9:g.47931920C>A	NCBI36
NG_009009.1:g.161037C>A , LRG_517:g.161037C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2056C>A MANE Select	ENSP00000267163.4:p.His686Asn
ENST00000643064.1:c.194+78340C>A
ENST00000650461.1:c.2056C>A	ENSP00000497193.1:p.His686Asn
ENST00000267163.4:c.2056C>A	ENSP00000267163.4:p.His686Asn
NM_000321.2:c.2056C>A , LRG_517t1:c.2056C>A	NP_000312.2:p.His686Asn
XM_011535171.1:c.1795C>A	XP_011533473.1:p.His599Asn
XM_011535171.2:c.1795C>A	XP_011533473.1:p.His599Asn
NM_000321.3:c.2056C>A MANE Select	NP_000312.2:p.His686Asn