Canonical Allele Identifier: CA483559015

Gene: RB1

Linked Data

• ClinVar Variation Id: 1784631
• ClinVar RCV Id: RCV002419660
• MyVariant Identifiers: chr13:g.49033888A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48459752A>G , CM000675.2:g.48459752A>G	GRCh38
NC_000013.10:g.49033888A>G , CM000675.1:g.49033888A>G	GRCh37
NC_000013.9:g.47931889A>G	NCBI36
NG_009009.1:g.161006A>G , LRG_517:g.161006A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2025A>G MANE Select	ENSP00000267163.4:p.Glu675=
ENST00000643064.1:c.194+78309A>G
ENST00000650461.1:c.2025A>G	ENSP00000497193.1:p.Glu675=
ENST00000267163.4:c.2025A>G	ENSP00000267163.4:p.Glu675=
NM_000321.2:c.2025A>G , LRG_517t1:c.2025A>G	NP_000312.2:p.Glu675=
XM_011535171.1:c.1764A>G	XP_011533473.1:p.Glu588=
XM_011535171.2:c.1764A>G	XP_011533473.1:p.Glu588=
NM_000321.3:c.2025A>G MANE Select	NP_000312.2:p.Glu675=