Canonical Allele Identifier: CA388163787

Gene: RB1

Linked Data

• ClinVar Variation Id: 1776555
• ClinVar RCV Id: RCV002401025 ; RCV003774414
• dbSNP Id: rs769696726
• MyVariant Identifiers: chr13:g.48955503G>A (hg19) ; chr13:g.48381367G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48381367G>A , CM000675.2:g.48381367G>A	GRCh38
NC_000013.10:g.48955503G>A , CM000675.1:g.48955503G>A	GRCh37
NC_000013.9:g.47853504G>A	NCBI36
NG_009009.1:g.82621G>A , LRG_517:g.82621G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1619G>A MANE Select	ENSP00000267163.4:p.Gly540Asp
ENST00000643064.1:c.118G>A
ENST00000650461.1:c.1619G>A	ENSP00000497193.1:p.Gly540Asp
ENST00000267163.4:c.1619G>A	ENSP00000267163.4:p.Gly540Asp
NM_000321.2:c.1619G>A , LRG_517t1:c.1619G>A	NP_000312.2:p.Gly540Asp
XM_011535171.1:c.1358G>A	XP_011533473.1:p.Gly453Asp
XM_011535171.2:c.1358G>A	XP_011533473.1:p.Gly453Asp
NM_000321.3:c.1619G>A MANE Select	NP_000312.2:p.Gly540Asp