Canonical Allele Identifier: CA388167062

Gene: RB1

Linked Data

• ClinVar Variation Id: 1517836
• ClinVar RCV Id: RCV002021313
• dbSNP Id: rs137853296
• MyVariant Identifiers: chr13:g.49037894T>A (hg19) ; chr13:g.48463758T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48463758T>A , CM000675.2:g.48463758T>A	GRCh38
NC_000013.10:g.49037894T>A , CM000675.1:g.49037894T>A	GRCh37
NC_000013.9:g.47935895T>A	NCBI36
NG_009009.1:g.165012T>A , LRG_517:g.165012T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000267163.6:c.2134T>A MANE Select	ENSP00000267163.4:p.Cys712Ser
ENST00000643064.1:c.194+82315T>A
ENST00000650461.1:c.2134T>A	ENSP00000497193.1:p.Cys712Ser
ENST00000267163.4:c.2134T>A	ENSP00000267163.4:p.Cys712Ser
NM_000321.2:c.2134T>A , LRG_517t1:c.2134T>A	NP_000312.2:p.Cys712Ser
XM_011535171.1:c.1873T>A	XP_011533473.1:p.Cys625Ser
XM_011535171.2:c.1873T>A	XP_011533473.1:p.Cys625Ser
NM_000321.3:c.2134T>A MANE Select	NP_000312.2:p.Cys712Ser