Canonical Allele Identifier: CA483558334

Gene: RB1

Linked Data

• dbSNP Id: rs2138123437
• MyVariant Identifiers: chr13:g.48942726A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48368590A>T , CM000675.2:g.48368590A>T	GRCh38
NC_000013.10:g.48942726A>T , CM000675.1:g.48942726A>T	GRCh37
NC_000013.9:g.47840727A>T	NCBI36
NG_009009.1:g.69844A>T , LRG_517:g.69844A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1113A>T MANE Select	ENSP00000267163.4:p.Pro371=
ENST00000650461.1:c.1113A>T	ENSP00000497193.1:p.Pro371=
ENST00000267163.4:c.1113A>T	ENSP00000267163.4:p.Pro371=
NM_000321.2:c.1113A>T , LRG_517t1:c.1113A>T	NP_000312.2:p.Pro371=
XM_011535171.1:c.852A>T	XP_011533473.1:p.Pro284=
XM_011535171.2:c.852A>T	XP_011533473.1:p.Pro284=
XR_002957522.1:n.122-3614T>A
NM_000321.3:c.1113A>T MANE Select	NP_000312.2:p.Pro371=