Canonical Allele Identifier: CA388163598

Gene: RB1

Linked Data

• dbSNP Id: rs2138145221
• gnomAD v4: 13-48381327-G-A
• MyVariant Identifiers: chr13:g.48955463G>A (hg19) ; chr13:g.48381327G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48381327G>A , CM000675.2:g.48381327G>A	GRCh38
NC_000013.10:g.48955463G>A , CM000675.1:g.48955463G>A	GRCh37
NC_000013.9:g.47853464G>A	NCBI36
NG_009009.1:g.82581G>A , LRG_517:g.82581G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1579G>A MANE Select	ENSP00000267163.4:p.Asp527Asn
ENST00000643064.1:c.78G>A
ENST00000650461.1:c.1579G>A	ENSP00000497193.1:p.Asp527Asn
ENST00000267163.4:c.1579G>A	ENSP00000267163.4:p.Asp527Asn
NM_000321.2:c.1579G>A , LRG_517t1:c.1579G>A	NP_000312.2:p.Asp527Asn
XM_011535171.1:c.1318G>A	XP_011533473.1:p.Asp440Asn
XM_011535171.2:c.1318G>A	XP_011533473.1:p.Asp440Asn
NM_000321.3:c.1579G>A MANE Select	NP_000312.2:p.Asp527Asn