Canonical Allele Identifier: CA388164029

Gene: RB1

Linked Data

• ClinVar Variation Id: 428688
• ClinVar RCV Id: RCV000492749
• dbSNP Id: rs1131690869
• MyVariant Identifiers: chr13:g.48955559G>C (hg19) ; chr13:g.48381423G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48381423G>C , CM000675.2:g.48381423G>C	GRCh38
NC_000013.10:g.48955559G>C , CM000675.1:g.48955559G>C	GRCh37
NC_000013.9:g.47853560G>C	NCBI36
NG_009009.1:g.82677G>C , LRG_517:g.82677G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1675G>C MANE Select	ENSP00000267163.4:p.Glu559Gln
ENST00000643064.1:c.174G>C
ENST00000650461.1:c.1675G>C	ENSP00000497193.1:p.Glu559Gln
ENST00000267163.4:c.1675G>C	ENSP00000267163.4:p.Glu559Gln
NM_000321.2:c.1675G>C , LRG_517t1:c.1675G>C	NP_000312.2:p.Glu559Gln
XM_011535171.1:c.1414G>C	XP_011533473.1:p.Glu472Gln
XM_011535171.2:c.1414G>C	XP_011533473.1:p.Glu472Gln
NM_000321.3:c.1675G>C MANE Select	NP_000312.2:p.Glu559Gln