Canonical Allele Identifier: CA609579591

Gene: RB1

Linked Data

• dbSNP Id: rs1432093310
• gnomAD v2: 13-49050990-G-A
• gnomAD v4: 13-48476854-G-A
• MyVariant Identifiers: chr13:g.49050990G>A (hg19) ; chr13:g.48476854G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48476854G>A , CM000675.2:g.48476854G>A	GRCh38
NC_000013.10:g.49050990G>A , CM000675.1:g.49050990G>A	GRCh37
NC_000013.9:g.47948991G>A	NCBI36
NG_009009.1:g.178108G>A , LRG_517:g.178108G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2663+11G>A MANE Select	ENSP00000267163.4:n.2663+11G>A
ENST00000643064.1:c.194+95411G>A
ENST00000650461.1:c.2663+11G>A	ENSP00000497193.1:n.2663+11G>A
ENST00000267163.4:c.2663+11G>A	ENSP00000267163.4:n.2663+11G>A
ENST00000484879.1:n.397+11G>A
ENST00000531171.5:n.266+11G>A
NM_000321.2:c.2663+11G>A , LRG_517t1:c.2663+11G>A	NP_000312.2:n.2663+11G>A
XM_011535171.1:c.2402+11G>A	XP_011533473.1:n.2402+11G>A
XM_011535171.2:c.2402+11G>A	XP_011533473.1:n.2402+11G>A
NM_000321.3:c.2663+11G>A MANE Select	NP_000312.2:n.2663+11G>A