Canonical Allele Identifier: CA249269206

Gene: RB1

Linked Data

• dbSNP Id: rs533228388
• gnomAD v2: 13-48922782-A-T
• gnomAD v3: 13-48348646-A-T
• gnomAD v4: 13-48348646-A-T
• MyVariant Identifiers: chr13:g.48922782A>T (hg19) ; chr13:g.48348646A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48348646A>T , CM000675.2:g.48348646A>T	GRCh38
NC_000013.10:g.48922782A>T , CM000675.1:g.48922782A>T	GRCh37
NC_000013.9:g.47820783A>T	NCBI36
NG_009009.1:g.49900A>T , LRG_517:g.49900A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.540-310A>T MANE Select	ENSP00000267163.4:n.540-310A>T
ENST00000650461.1:c.540-310A>T	ENSP00000497193.1:n.540-310A>T
ENST00000267163.4:c.540-310A>T	ENSP00000267163.4:n.540-310A>T
ENST00000467505.5:c.138-11371A>T	ENSP00000434702.1:n.138-11371A>T
ENST00000525036.1:n.702-310A>T
NM_000321.2:c.540-310A>T , LRG_517t1:c.540-310A>T	NP_000312.2:n.540-310A>T
XM_011535171.1:c.279-310A>T	XP_011533473.1:n.279-310A>T
XM_011535171.2:c.279-310A>T	XP_011533473.1:n.279-310A>T
NM_000321.3:c.540-310A>T MANE Select	NP_000312.2:n.540-310A>T