Canonical Allele Identifier: CA388157008

Gene: RB1

Linked Data

• dbSNP Id: rs2138093761
• gnomAD v4: 13-48349018-C-A
• MyVariant Identifiers: chr13:g.48923154C>A (hg19) ; chr13:g.48349018C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48349018C>A , CM000675.2:g.48349018C>A	GRCh38
NC_000013.10:g.48923154C>A , CM000675.1:g.48923154C>A	GRCh37
NC_000013.9:g.47821155C>A	NCBI36
NG_009009.1:g.50272C>A , LRG_517:g.50272C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000267163.6:c.602C>A MANE Select	ENSP00000267163.4:p.Ala201Asp
ENST00000650461.1:c.602C>A	ENSP00000497193.1:p.Ala201Asp
ENST00000267163.4:c.602C>A	ENSP00000267163.4:p.Ala201Asp
ENST00000467505.5:c.138-10999C>A	ENSP00000434702.1:n.138-10999C>A
ENST00000525036.1:n.764C>A
NM_000321.2:c.602C>A , LRG_517t1:c.602C>A	NP_000312.2:p.Ala201Asp
XM_011535171.1:c.341C>A	XP_011533473.1:p.Ala114Asp
XM_011535171.2:c.341C>A	XP_011533473.1:p.Ala114Asp
NM_000321.3:c.602C>A MANE Select	NP_000312.2:p.Ala201Asp