Canonical Allele Identifier: CA036710

Gene: RB1

Linked Data

• ClinVar Variation Id: 1915840
• ClinVar RCV Id: RCV002594127
• dbSNP Id: rs757724700
• ExAC: 13:49050995 G / A
• gnomAD v4: 13-48476859-G-A
• MyVariant Identifiers: chr13:g.49050995G>A (hg19) ; chr13:g.48476859G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48476859G>A , CM000675.2:g.48476859G>A	GRCh38
NC_000013.10:g.49050995G>A , CM000675.1:g.49050995G>A	GRCh37
NC_000013.9:g.47948996G>A	NCBI36
NG_009009.1:g.178113G>A , LRG_517:g.178113G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2663+16G>A MANE Select	ENSP00000267163.4:n.2663+16G>A
ENST00000643064.1:c.194+95416G>A
ENST00000650461.1:c.2663+16G>A	ENSP00000497193.1:n.2663+16G>A
ENST00000267163.4:c.2663+16G>A	ENSP00000267163.4:n.2663+16G>A
ENST00000484879.1:n.397+16G>A
ENST00000531171.5:n.266+16G>A
NM_000321.2:c.2663+16G>A , LRG_517t1:c.2663+16G>A	NP_000312.2:n.2663+16G>A
XM_011535171.1:c.2402+16G>A	XP_011533473.1:n.2402+16G>A
XM_011535171.2:c.2402+16G>A	XP_011533473.1:n.2402+16G>A
NM_000321.3:c.2663+16G>A MANE Select	NP_000312.2:n.2663+16G>A