Canonical Allele Identifier: CA16621814

Gene: PDE6B PDE6B-AS1

Linked Data

• ClinVar Variation Id: 425324
• ClinVar RCV Id: RCV000488380 ; RCV001293398 ; RCV001199718
• dbSNP Id: rs1064797304
• MyVariant Identifiers: chr4:g.647902G>T (hg19) ; chr4:g.654113G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.654113G>T , CM000666.2:g.654113G>T	GRCh38
NC_000004.11:g.647902G>T , CM000666.1:g.647902G>T	GRCh37
NC_000004.10:g.637902G>T	NCBI36
NG_009839.1:g.33540G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.886G>T (PDE6B) MANE Select	ENSP00000420295.1:p.Glu296Ter
ENST00000255622.10:c.886G>T (PDE6B)	ENSP00000255622.6:p.Glu296Ter
ENST00000429163.6:c.49G>T (PDE6B)	ENSP00000406334.2:p.Glu17Ter
ENST00000465426.5:c.49G>T (PDE6B)	ENSP00000418454.1:p.Glu17Ter
ENST00000467152.1:n.284G>T (PDE6B)
ENST00000474251.5:n.337G>T (PDE6B)
ENST00000476034.5:n.456G>T (PDE6B)
ENST00000487902.5:c.49G>T (PDE6B)	ENSP00000418256.1:p.Glu17Ter
ENST00000496514.5:c.886G>T (PDE6B)	ENSP00000420295.1:p.Glu296Ter
NM_000283.3:c.886G>T (PDE6B)	NP_000274.2:p.Glu296Ter
NM_001145291.1:c.886G>T (PDE6B)	NP_001138763.1:p.Glu296Ter
NM_001145292.1:c.49G>T (PDE6B)	NP_001138764.1:p.Glu17Ter
XM_011513473.1:c.1105G>T (PDE6B)	XP_011511775.1:p.Glu369Ter
XM_011513474.1:c.1105G>T (PDE6B)	XP_011511776.1:p.Glu369Ter
XM_011513475.1:c.886G>T (PDE6B)	XP_011511777.1:p.Glu296Ter
XM_011513476.1:c.1105G>T (PDE6B)	XP_011511778.1:p.Glu369Ter
XM_011513477.1:c.-512G>T (PDE6B)	XP_011511779.1:n.-512G>T
XM_011513478.1:c.-855G>T (PDE6B)	XP_011511780.1:n.-855G>T
XR_246615.2:n.966C>A (PDE6B-AS1)
XR_925030.1:n.866-142C>A (PDE6B-AS1)
NM_001350154.1:c.49G>T (PDE6B)	NP_001337083.1:p.Glu17Ter
NM_001350155.1:c.-155G>T (PDE6B)	NP_001337084.1:n.-155G>T
XM_011513473.3:c.1105G>T (PDE6B)	XP_011511775.1:p.Glu369Ter
XM_011513474.3:c.1105G>T (PDE6B)	XP_011511776.1:p.Glu369Ter
XM_011513475.2:c.886G>T (PDE6B)	XP_011511777.1:p.Glu296Ter
XM_011513476.3:c.1105G>T (PDE6B)	XP_011511778.1:p.Glu369Ter
XM_011513478.2:c.-855G>T (PDE6B)	XP_011511780.1:n.-855G>T
XM_017008284.1:c.49G>T (PDE6B)	XP_016863773.1:p.Glu17Ter
XM_017008285.1:c.49G>T (PDE6B)	XP_016863774.1:p.Glu17Ter
XM_017008286.1:c.49G>T (PDE6B)	XP_016863775.1:p.Glu17Ter
XR_001741541.1:n.1108-142C>A (PDE6B-AS1)
XR_246615.3:n.1208C>A (PDE6B-AS1)
NM_001350154.2:c.49G>T (PDE6B)	NP_001337083.1:p.Glu17Ter
NM_001350155.2:c.-155G>T (PDE6B)	NP_001337084.1:n.-155G>T
NM_000283.4:c.886G>T (PDE6B) MANE Select	NP_000274.3:p.Glu296Ter
NM_001145291.2:c.886G>T (PDE6B)	NP_001138763.2:p.Glu296Ter
NM_001145292.2:c.49G>T (PDE6B)	NP_001138764.2:p.Glu17Ter
NM_001350154.3:c.49G>T (PDE6B)	NP_001337083.1:p.Glu17Ter
NM_001350155.3:c.-155G>T (PDE6B)	NP_001337084.1:n.-155G>T
NM_001379246.1:c.49G>T (PDE6B)	NP_001366175.1:p.Glu17Ter
NM_001379247.1:c.49G>T (PDE6B)	NP_001366176.1:p.Glu17Ter