Canonical Allele Identifier: CA483558315

Gene: RB1

Linked Data

• MyVariant Identifiers: chr13:g.49030367G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48456231G>A , CM000675.2:g.48456231G>A	GRCh38
NC_000013.10:g.49030367G>A , CM000675.1:g.49030367G>A	GRCh37
NC_000013.9:g.47928368G>A	NCBI36
NG_009009.1:g.157485G>A , LRG_517:g.157485G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1842G>A MANE Select	ENSP00000267163.4:p.Lys614=
ENST00000643064.1:c.194+74788G>A
ENST00000650461.1:c.1842G>A	ENSP00000497193.1:p.Lys614=
ENST00000267163.4:c.1842G>A	ENSP00000267163.4:p.Lys614=
ENST00000480491.1:n.541G>A
NM_000321.2:c.1842G>A , LRG_517t1:c.1842G>A	NP_000312.2:p.Lys614=
XM_011535171.1:c.1581G>A	XP_011533473.1:p.Lys527=
XM_011535171.2:c.1581G>A	XP_011533473.1:p.Lys527=
NM_000321.3:c.1842G>A MANE Select	NP_000312.2:p.Lys614=