Canonical Allele Identifier: CA388159369

Gene: RB1

Linked Data

• MyVariant Identifiers: chr13:g.48937001C>A (hg19) ; chr13:g.48362865C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48362865C>A , CM000675.2:g.48362865C>A	GRCh38
NC_000013.10:g.48937001C>A , CM000675.1:g.48937001C>A	GRCh37
NC_000013.9:g.47835002C>A	NCBI36
NG_009009.1:g.64119C>A , LRG_517:g.64119C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000267163.6:c.769C>A MANE Select	ENSP00000267163.4:p.Gln257Lys
ENST00000650461.1:c.769C>A	ENSP00000497193.1:p.Gln257Lys
ENST00000267163.4:c.769C>A	ENSP00000267163.4:p.Gln257Lys
ENST00000467505.5:c.*137C>A	ENSP00000434702.1:n.*137C>A
NM_000321.2:c.769C>A , LRG_517t1:c.769C>A	NP_000312.2:p.Gln257Lys
XM_011535171.1:c.508C>A	XP_011533473.1:p.Gln170Lys
XM_011535171.2:c.508C>A	XP_011533473.1:p.Gln170Lys
NM_000321.3:c.769C>A MANE Select	NP_000312.2:p.Gln257Lys