Canonical Allele Identifier: CA483557528

Gene: RB1

Linked Data

• dbSNP Id: rs1952522861
• MyVariant Identifiers: chr13:g.48923116A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48348980A>T , CM000675.2:g.48348980A>T	GRCh38
NC_000013.10:g.48923116A>T , CM000675.1:g.48923116A>T	GRCh37
NC_000013.9:g.47821117A>T	NCBI36
NG_009009.1:g.50234A>T , LRG_517:g.50234A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.564A>T MANE Select	ENSP00000267163.4:p.Ala188=
ENST00000650461.1:c.564A>T	ENSP00000497193.1:p.Ala188=
ENST00000267163.4:c.564A>T	ENSP00000267163.4:p.Ala188=
ENST00000467505.5:c.138-11037A>T	ENSP00000434702.1:n.138-11037A>T
ENST00000525036.1:n.726A>T
NM_000321.2:c.564A>T , LRG_517t1:c.564A>T	NP_000312.2:p.Ala188=
XM_011535171.1:c.303A>T	XP_011533473.1:p.Ala101=
XM_011535171.2:c.303A>T	XP_011533473.1:p.Ala101=
NM_000321.3:c.564A>T MANE Select	NP_000312.2:p.Ala188=