Canonical Allele Identifier: CA355911666

Gene: PDE6B PDE6B-AS1

Linked Data

• COSMIC: COSM3604907
• MyVariant Identifiers: chr4:g.647869G>A (hg19) ; chr4:g.654080G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.654080G>A , CM000666.2:g.654080G>A	GRCh38
NC_000004.11:g.647869G>A , CM000666.1:g.647869G>A	GRCh37
NC_000004.10:g.637869G>A	NCBI36
NG_009839.1:g.33507G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.853G>A (PDE6B) MANE Select	ENSP00000420295.1:p.Glu285Lys
ENST00000255622.10:c.853G>A (PDE6B)	ENSP00000255622.6:p.Glu285Lys
ENST00000429163.6:c.16G>A (PDE6B)	ENSP00000406334.2:p.Glu6Lys
ENST00000465426.5:c.16G>A (PDE6B)	ENSP00000418454.1:p.Glu6Lys
ENST00000467152.1:n.251G>A (PDE6B)
ENST00000474251.5:n.304G>A (PDE6B)
ENST00000476034.5:n.423G>A (PDE6B)
ENST00000487902.5:c.16G>A (PDE6B)	ENSP00000418256.1:p.Glu6Lys
ENST00000488061.5:c.16G>A (PDE6B)	ENSP00000420228.1:p.Glu6Lys
ENST00000496514.5:c.853G>A (PDE6B)	ENSP00000420295.1:p.Glu285Lys
NM_000283.3:c.853G>A (PDE6B)	NP_000274.2:p.Glu285Lys
NM_001145291.1:c.853G>A (PDE6B)	NP_001138763.1:p.Glu285Lys
NM_001145292.1:c.16G>A (PDE6B)	NP_001138764.1:p.Glu6Lys
XM_011513473.1:c.1072G>A (PDE6B)	XP_011511775.1:p.Glu358Lys
XM_011513474.1:c.1072G>A (PDE6B)	XP_011511776.1:p.Glu358Lys
XM_011513475.1:c.853G>A (PDE6B)	XP_011511777.1:p.Glu285Lys
XM_011513476.1:c.1072G>A (PDE6B)	XP_011511778.1:p.Glu358Lys
XM_011513477.1:c.-545G>A (PDE6B)	XP_011511779.1:n.-545G>A
XM_011513478.1:c.-888G>A (PDE6B)	XP_011511780.1:n.-888G>A
XR_246615.2:n.999C>T (PDE6B-AS1)
XR_925030.1:n.866-109C>T (PDE6B-AS1)
NM_001350154.1:c.16G>A (PDE6B)	NP_001337083.1:p.Glu6Lys
NM_001350155.1:c.-188G>A (PDE6B)	NP_001337084.1:n.-188G>A
XM_011513473.3:c.1072G>A (PDE6B)	XP_011511775.1:p.Glu358Lys
XM_011513474.3:c.1072G>A (PDE6B)	XP_011511776.1:p.Glu358Lys
XM_011513475.2:c.853G>A (PDE6B)	XP_011511777.1:p.Glu285Lys
XM_011513476.3:c.1072G>A (PDE6B)	XP_011511778.1:p.Glu358Lys
XM_011513478.2:c.-888G>A (PDE6B)	XP_011511780.1:n.-888G>A
XM_017008284.1:c.16G>A (PDE6B)	XP_016863773.1:p.Glu6Lys
XM_017008285.1:c.16G>A (PDE6B)	XP_016863774.1:p.Glu6Lys
XM_017008286.1:c.16G>A (PDE6B)	XP_016863775.1:p.Glu6Lys
XR_001741541.1:n.1108-109C>T (PDE6B-AS1)
XR_246615.3:n.1241C>T (PDE6B-AS1)
NM_001350154.2:c.16G>A (PDE6B)	NP_001337083.1:p.Glu6Lys
NM_001350155.2:c.-188G>A (PDE6B)	NP_001337084.1:n.-188G>A
NM_000283.4:c.853G>A (PDE6B) MANE Select	NP_000274.3:p.Glu285Lys
NM_001145291.2:c.853G>A (PDE6B)	NP_001138763.2:p.Glu285Lys
NM_001145292.2:c.16G>A (PDE6B)	NP_001138764.2:p.Glu6Lys
NM_001350154.3:c.16G>A (PDE6B)	NP_001337083.1:p.Glu6Lys
NM_001350155.3:c.-188G>A (PDE6B)	NP_001337084.1:n.-188G>A
NM_001379246.1:c.16G>A (PDE6B)	NP_001366175.1:p.Glu6Lys
NM_001379247.1:c.16G>A (PDE6B)	NP_001366176.1:p.Glu6Lys