Canonical Allele Identifier: CA388166897

Gene: RB1

Linked Data

• ClinVar Variation Id: 643308
• ClinVar RCV Id: RCV000796980
• dbSNP Id: rs1593534748
• MyVariant Identifiers: chr13:g.49033934G>A (hg19) ; chr13:g.48459798G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48459798G>A , CM000675.2:g.48459798G>A	GRCh38
NC_000013.10:g.49033934G>A , CM000675.1:g.49033934G>A	GRCh37
NC_000013.9:g.47931935G>A	NCBI36
NG_009009.1:g.161052G>A , LRG_517:g.161052G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2071G>A MANE Select	ENSP00000267163.4:p.Glu691Lys
ENST00000643064.1:c.194+78355G>A
ENST00000650461.1:c.2071G>A	ENSP00000497193.1:p.Glu691Lys
ENST00000267163.4:c.2071G>A	ENSP00000267163.4:p.Glu691Lys
NM_000321.2:c.2071G>A , LRG_517t1:c.2071G>A	NP_000312.2:p.Glu691Lys
XM_011535171.1:c.1810G>A	XP_011533473.1:p.Glu604Lys
XM_011535171.2:c.1810G>A	XP_011533473.1:p.Glu604Lys
NM_000321.3:c.2071G>A MANE Select	NP_000312.2:p.Glu691Lys