Canonical Allele Identifier: CA388157013

Gene: RB1

Linked Data

• MyVariant Identifiers: chr13:g.48923156A>T (hg19) ; chr13:g.48349020A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48349020A>T , CM000675.2:g.48349020A>T	GRCh38
NC_000013.10:g.48923156A>T , CM000675.1:g.48923156A>T	GRCh37
NC_000013.9:g.47821157A>T	NCBI36
NG_009009.1:g.50274A>T , LRG_517:g.50274A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000267163.6:c.604A>T MANE Select	ENSP00000267163.4:p.Lys202Ter
ENST00000650461.1:c.604A>T	ENSP00000497193.1:p.Lys202Ter
ENST00000267163.4:c.604A>T	ENSP00000267163.4:p.Lys202Ter
ENST00000467505.5:c.138-10997A>T	ENSP00000434702.1:n.138-10997A>T
ENST00000525036.1:n.766A>T
NM_000321.2:c.604A>T , LRG_517t1:c.604A>T	NP_000312.2:p.Lys202Ter
XM_011535171.1:c.343A>T	XP_011533473.1:p.Lys115Ter
XM_011535171.2:c.343A>T	XP_011533473.1:p.Lys115Ter
NM_000321.3:c.604A>T MANE Select	NP_000312.2:p.Lys202Ter