Canonical Allele Identifier: CA249277052

Gene: RB1

Linked Data

• dbSNP Id: rs867103179
• gnomAD v4: 13-48368651-G-T
• MyVariant Identifiers: chr13:g.48942787G>T (hg19) ; chr13:g.48368651G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48368651G>T , CM000675.2:g.48368651G>T	GRCh38
NC_000013.10:g.48942787G>T , CM000675.1:g.48942787G>T	GRCh37
NC_000013.9:g.47840788G>T	NCBI36
NG_009009.1:g.69905G>T , LRG_517:g.69905G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1127+47G>T MANE Select	ENSP00000267163.4:n.1127+47G>T
ENST00000650461.1:c.1127+47G>T	ENSP00000497193.1:n.1127+47G>T
ENST00000267163.4:c.1127+47G>T	ENSP00000267163.4:n.1127+47G>T
NM_000321.2:c.1127+47G>T , LRG_517t1:c.1127+47G>T	NP_000312.2:n.1127+47G>T
XM_011535171.1:c.866+47G>T	XP_011533473.1:n.866+47G>T
XM_011535171.2:c.866+47G>T	XP_011533473.1:n.866+47G>T
XR_002957522.1:n.122-3675C>A
NM_000321.3:c.1127+47G>T MANE Select	NP_000312.2:n.1127+47G>T