Canonical Allele Identifier: CA249281938

Gene: RB1

Linked Data

• dbSNP Id: rs138201027
• MyVariant Identifiers: chr13:g.48955430T>G (hg19) ; chr13:g.48381294T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48381294T>G , CM000675.2:g.48381294T>G	GRCh38
NC_000013.10:g.48955430T>G , CM000675.1:g.48955430T>G	GRCh37
NC_000013.9:g.47853431T>G	NCBI36
NG_009009.1:g.82548T>G , LRG_517:g.82548T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1546T>G MANE Select	ENSP00000267163.4:p.Trp516Gly
ENST00000643064.1:c.45T>G
ENST00000650461.1:c.1546T>G	ENSP00000497193.1:p.Trp516Gly
ENST00000267163.4:c.1546T>G	ENSP00000267163.4:p.Trp516Gly
NM_000321.2:c.1546T>G , LRG_517t1:c.1546T>G	NP_000312.2:p.Trp516Gly
XM_011535171.1:c.1285T>G	XP_011533473.1:p.Trp429Gly
XM_011535171.2:c.1285T>G	XP_011533473.1:p.Trp429Gly
NM_000321.3:c.1546T>G MANE Select	NP_000312.2:p.Trp516Gly