Canonical Allele Identifier: CA483557550

Gene: RB1

Linked Data

• MyVariant Identifiers: chr13:g.48923143A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48349007A>T , CM000675.2:g.48349007A>T	GRCh38
NC_000013.10:g.48923143A>T , CM000675.1:g.48923143A>T	GRCh37
NC_000013.9:g.47821144A>T	NCBI36
NG_009009.1:g.50261A>T , LRG_517:g.50261A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.591A>T MANE Select	ENSP00000267163.4:p.Thr197=
ENST00000650461.1:c.591A>T	ENSP00000497193.1:p.Thr197=
ENST00000267163.4:c.591A>T	ENSP00000267163.4:p.Thr197=
ENST00000467505.5:c.138-11010A>T	ENSP00000434702.1:n.138-11010A>T
ENST00000525036.1:n.753A>T
NM_000321.2:c.591A>T , LRG_517t1:c.591A>T	NP_000312.2:p.Thr197=
XM_011535171.1:c.330A>T	XP_011533473.1:p.Thr110=
XM_011535171.2:c.330A>T	XP_011533473.1:p.Thr110=
NM_000321.3:c.591A>T MANE Select	NP_000312.2:p.Thr197=