Canonical Allele Identifier: CA388156974

Gene: RB1

Linked Data

• dbSNP Id: rs1952523113
• MyVariant Identifiers: chr13:g.48923138A>T (hg19) ; chr13:g.48349002A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48349002A>T , CM000675.2:g.48349002A>T	GRCh38
NC_000013.10:g.48923138A>T , CM000675.1:g.48923138A>T	GRCh37
NC_000013.9:g.47821139A>T	NCBI36
NG_009009.1:g.50256A>T , LRG_517:g.50256A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.586A>T MANE Select	ENSP00000267163.4:p.Ile196Phe
ENST00000650461.1:c.586A>T	ENSP00000497193.1:p.Ile196Phe
ENST00000267163.4:c.586A>T	ENSP00000267163.4:p.Ile196Phe
ENST00000467505.5:c.138-11015A>T	ENSP00000434702.1:n.138-11015A>T
ENST00000525036.1:n.748A>T
NM_000321.2:c.586A>T , LRG_517t1:c.586A>T	NP_000312.2:p.Ile196Phe
XM_011535171.1:c.325A>T	XP_011533473.1:p.Ile109Phe
XM_011535171.2:c.325A>T	XP_011533473.1:p.Ile109Phe
NM_000321.3:c.586A>T MANE Select	NP_000312.2:p.Ile196Phe