Canonical Allele Identifier: CA483559310

Gene: RB1

Linked Data

• dbSNP Id: rs2138143134
• MyVariant Identifiers: chr13:g.48954367C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48380231C>G , CM000675.2:g.48380231C>G	GRCh38
NC_000013.10:g.48954367C>G , CM000675.1:g.48954367C>G	GRCh37
NC_000013.9:g.47852368C>G	NCBI36
NG_009009.1:g.81485C>G , LRG_517:g.81485C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1488C>G MANE Select	ENSP00000267163.4:p.Ala496=
ENST00000650461.1:c.1488C>G	ENSP00000497193.1:p.Ala496=
ENST00000267163.4:c.1488C>G	ENSP00000267163.4:p.Ala496=
NM_000321.2:c.1488C>G , LRG_517t1:c.1488C>G	NP_000312.2:p.Ala496=
XM_011535171.1:c.1227C>G	XP_011533473.1:p.Ala409=
XM_011535171.2:c.1227C>G	XP_011533473.1:p.Ala409=
NM_000321.3:c.1488C>G MANE Select	NP_000312.2:p.Ala496=