Canonical Allele Identifier: CA483559031

Gene: RB1

Linked Data

• ClinVar Variation Id: 1785126
• ClinVar RCV Id: RCV002421875
• dbSNP Id: rs2138336259
• MyVariant Identifiers: chr13:g.49033918G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48459782G>A , CM000675.2:g.48459782G>A	GRCh38
NC_000013.10:g.49033918G>A , CM000675.1:g.49033918G>A	GRCh37
NC_000013.9:g.47931919G>A	NCBI36
NG_009009.1:g.161036G>A , LRG_517:g.161036G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2055G>A MANE Select	ENSP00000267163.4:p.Gln685=
ENST00000643064.1:c.194+78339G>A
ENST00000650461.1:c.2055G>A	ENSP00000497193.1:p.Gln685=
ENST00000267163.4:c.2055G>A	ENSP00000267163.4:p.Gln685=
NM_000321.2:c.2055G>A , LRG_517t1:c.2055G>A	NP_000312.2:p.Gln685=
XM_011535171.1:c.1794G>A	XP_011533473.1:p.Gln598=
XM_011535171.2:c.1794G>A	XP_011533473.1:p.Gln598=
NM_000321.3:c.2055G>A MANE Select	NP_000312.2:p.Gln685=