Canonical Allele Identifier: CA388164059

Gene: RB1

Linked Data

• dbSNP Id: rs2138145815
• MyVariant Identifiers: chr13:g.48955573G>T (hg19) ; chr13:g.48381437G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48381437G>T , CM000675.2:g.48381437G>T	GRCh38
NC_000013.10:g.48955573G>T , CM000675.1:g.48955573G>T	GRCh37
NC_000013.9:g.47853574G>T	NCBI36
NG_009009.1:g.82691G>T , LRG_517:g.82691G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1689G>T MANE Select	ENSP00000267163.4:p.Trp563Cys
ENST00000643064.1:c.188G>T
ENST00000650461.1:c.1689G>T	ENSP00000497193.1:p.Trp563Cys
ENST00000267163.4:c.1689G>T	ENSP00000267163.4:p.Trp563Cys
NM_000321.2:c.1689G>T , LRG_517t1:c.1689G>T	NP_000312.2:p.Trp563Cys
XM_011535171.1:c.1428G>T	XP_011533473.1:p.Trp476Cys
XM_011535171.2:c.1428G>T	XP_011533473.1:p.Trp476Cys
NM_000321.3:c.1689G>T MANE Select	NP_000312.2:p.Trp563Cys