Canonical Allele Identifier: CA483557551

Gene: RB1

Linked Data

• MyVariant Identifiers: chr13:g.48923146T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48349010T>C , CM000675.2:g.48349010T>C	GRCh38
NC_000013.10:g.48923146T>C , CM000675.1:g.48923146T>C	GRCh37
NC_000013.9:g.47821147T>C	NCBI36
NG_009009.1:g.50264T>C , LRG_517:g.50264T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.594T>C MANE Select	ENSP00000267163.4:p.Phe198=
ENST00000650461.1:c.594T>C	ENSP00000497193.1:p.Phe198=
ENST00000267163.4:c.594T>C	ENSP00000267163.4:p.Phe198=
ENST00000467505.5:c.138-11007T>C	ENSP00000434702.1:n.138-11007T>C
ENST00000525036.1:n.756T>C
NM_000321.2:c.594T>C , LRG_517t1:c.594T>C	NP_000312.2:p.Phe198=
XM_011535171.1:c.333T>C	XP_011533473.1:p.Phe111=
XM_011535171.2:c.333T>C	XP_011533473.1:p.Phe111=
NM_000321.3:c.594T>C MANE Select	NP_000312.2:p.Phe198=