Canonical Allele Identifier: CA388157647

Gene: RB1

Linked Data

• MyVariant Identifiers: chr13:g.49050973A>G (hg19) ; chr13:g.48476837A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48476837A>G , CM000675.2:g.48476837A>G	GRCh38
NC_000013.10:g.49050973A>G , CM000675.1:g.49050973A>G	GRCh37
NC_000013.9:g.47948974A>G	NCBI36
NG_009009.1:g.178091A>G , LRG_517:g.178091A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2657A>G MANE Select	ENSP00000267163.4:p.Asp886Gly
ENST00000643064.1:c.194+95394A>G
ENST00000650461.1:c.2657A>G	ENSP00000497193.1:p.Asp886Gly
ENST00000267163.4:c.2657A>G	ENSP00000267163.4:p.Asp886Gly
ENST00000484879.1:n.391A>G
ENST00000531171.5:n.260A>G
NM_000321.2:c.2657A>G , LRG_517t1:c.2657A>G	NP_000312.2:p.Asp886Gly
XM_011535171.1:c.2396A>G	XP_011533473.1:p.Asp799Gly
XM_011535171.2:c.2396A>G	XP_011533473.1:p.Asp799Gly
NM_000321.3:c.2657A>G MANE Select	NP_000312.2:p.Asp886Gly