Canonical Allele Identifier: CA249846136

Gene: RB1

Linked Data

• dbSNP Id: rs966056882
• gnomAD v3: 13-48342519-C-A
• gnomAD v4: 13-48342519-C-A
• MyVariant Identifiers: chr13:g.48916655C>A (hg19) ; chr13:g.48342519C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48342519C>A , CM000675.2:g.48342519C>A	GRCh38
NC_000013.10:g.48916655C>A , CM000675.1:g.48916655C>A	GRCh37
NC_000013.9:g.47814656C>A	NCBI36
NG_009009.1:g.43773C>A , LRG_517:g.43773C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.265-80C>A MANE Select	ENSP00000267163.4:n.265-80C>A
ENST00000650461.1:c.265-80C>A	ENSP00000497193.1:n.265-80C>A
ENST00000267163.4:c.265-80C>A	ENSP00000267163.4:n.265-80C>A
ENST00000467505.5:c.138-17498C>A	ENSP00000434702.1:n.138-17498C>A
ENST00000525036.1:n.427-80C>A
NM_000321.2:c.265-80C>A , LRG_517t1:c.265-80C>A	NP_000312.2:n.265-80C>A
XM_011535171.1:c.4-80C>A	XP_011533473.1:n.4-80C>A
XM_011535171.2:c.4-80C>A	XP_011533473.1:n.4-80C>A
NM_000321.3:c.265-80C>A MANE Select	NP_000312.2:n.265-80C>A