Canonical Allele Identifier: CA388168251

Gene: RB1

Linked Data

• ClinVar Variation Id: 3231226
• ClinVar RCV Id: RCV004525297
• dbSNP Id: rs2138359026
• MyVariant Identifiers: chr13:g.49050867A>T (hg19) ; chr13:g.48476731A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48476731A>T , CM000675.2:g.48476731A>T	GRCh38
NC_000013.10:g.49050867A>T , CM000675.1:g.49050867A>T	GRCh37
NC_000013.9:g.47948868A>T	NCBI36
NG_009009.1:g.177985A>T , LRG_517:g.177985A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2551A>T MANE Select	ENSP00000267163.4:p.Met851Leu
ENST00000643064.1:c.194+95288A>T
ENST00000650461.1:c.2551A>T	ENSP00000497193.1:p.Met851Leu
ENST00000267163.4:c.2551A>T	ENSP00000267163.4:p.Met851Leu
ENST00000484879.1:n.285A>T
ENST00000531171.5:n.154A>T
NM_000321.2:c.2551A>T , LRG_517t1:c.2551A>T	NP_000312.2:p.Met851Leu
XM_011535171.1:c.2290A>T	XP_011533473.1:p.Met764Leu
XM_011535171.2:c.2290A>T	XP_011533473.1:p.Met764Leu
NM_000321.3:c.2551A>T MANE Select	NP_000312.2:p.Met851Leu