Canonical Allele Identifier: CA388166879

Gene: RB1

Linked Data

• dbSNP Id: rs1566235470
• MyVariant Identifiers: chr13:g.49033928C>A (hg19) ; chr13:g.48459792C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48459792C>A , CM000675.2:g.48459792C>A	GRCh38
NC_000013.10:g.49033928C>A , CM000675.1:g.49033928C>A	GRCh37
NC_000013.9:g.47931929C>A	NCBI36
NG_009009.1:g.161046C>A , LRG_517:g.161046C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2065C>A MANE Select	ENSP00000267163.4:p.Gln689Lys
ENST00000643064.1:c.194+78349C>A
ENST00000650461.1:c.2065C>A	ENSP00000497193.1:p.Gln689Lys
ENST00000267163.4:c.2065C>A	ENSP00000267163.4:p.Gln689Lys
NM_000321.2:c.2065C>A , LRG_517t1:c.2065C>A	NP_000312.2:p.Gln689Lys
XM_011535171.1:c.1804C>A	XP_011533473.1:p.Gln602Lys
XM_011535171.2:c.1804C>A	XP_011533473.1:p.Gln602Lys
NM_000321.3:c.2065C>A MANE Select	NP_000312.2:p.Gln689Lys