Canonical Allele Identifier: CA355911540

Gene: PDE6B PDE6B-AS1

Linked Data

• dbSNP Id: rs1198876448
• MyVariant Identifiers: chr4:g.647768T>C (hg19) ; chr4:g.653979T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.653979T>C , CM000666.2:g.653979T>C	GRCh38
NC_000004.11:g.647768T>C , CM000666.1:g.647768T>C	GRCh37
NC_000004.10:g.637768T>C	NCBI36
NG_009839.1:g.33406T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.839T>C (PDE6B) MANE Select	ENSP00000420295.1:p.Met280Thr
ENST00000255622.10:c.839T>C (PDE6B)	ENSP00000255622.6:p.Met280Thr
ENST00000429163.6:c.2T>C (PDE6B)	ENSP00000406334.2:p.Met1Thr
ENST00000465426.5:c.2T>C (PDE6B)	ENSP00000418454.1:p.Met1Thr
ENST00000467152.1:n.237T>C (PDE6B)
ENST00000474251.5:n.290T>C (PDE6B)
ENST00000476034.5:n.409T>C (PDE6B)
ENST00000487902.5:c.2T>C (PDE6B)	ENSP00000418256.1:p.Met1Thr
ENST00000488061.5:c.2T>C (PDE6B)	ENSP00000420228.1:p.Met1Thr
ENST00000496514.5:c.839T>C (PDE6B)	ENSP00000420295.1:p.Met280Thr
NM_000283.3:c.839T>C (PDE6B)	NP_000274.2:p.Met280Thr
NM_001145291.1:c.839T>C (PDE6B)	NP_001138763.1:p.Met280Thr
NM_001145292.1:c.2T>C (PDE6B)	NP_001138764.1:p.Met1Thr
XM_011513473.1:c.1058T>C (PDE6B)	XP_011511775.1:p.Met353Thr
XM_011513474.1:c.1058T>C (PDE6B)	XP_011511776.1:p.Met353Thr
XM_011513475.1:c.839T>C (PDE6B)	XP_011511777.1:p.Met280Thr
XM_011513476.1:c.1058T>C (PDE6B)	XP_011511778.1:p.Met353Thr
XM_011513477.1:c.-559T>C (PDE6B)	XP_011511779.1:n.-559T>C
XM_011513478.1:c.-902T>C (PDE6B)	XP_011511780.1:n.-902T>C
XR_246615.2:n.1015-8A>G (PDE6B-AS1)
XR_925030.1:n.866-8A>G (PDE6B-AS1)
NM_001350154.1:c.2T>C (PDE6B)	NP_001337083.1:p.Met1Thr
NM_001350155.1:c.-202T>C (PDE6B)	NP_001337084.1:n.-202T>C
XM_011513473.3:c.1058T>C (PDE6B)	XP_011511775.1:p.Met353Thr
XM_011513474.3:c.1058T>C (PDE6B)	XP_011511776.1:p.Met353Thr
XM_011513475.2:c.839T>C (PDE6B)	XP_011511777.1:p.Met280Thr
XM_011513476.3:c.1058T>C (PDE6B)	XP_011511778.1:p.Met353Thr
XM_011513478.2:c.-902T>C (PDE6B)	XP_011511780.1:n.-902T>C
XM_017008284.1:c.2T>C (PDE6B)	XP_016863773.1:p.Met1Thr
XM_017008285.1:c.2T>C (PDE6B)	XP_016863774.1:p.Met1Thr
XM_017008286.1:c.2T>C (PDE6B)	XP_016863775.1:p.Met1Thr
XR_001741541.1:n.1108-8A>G (PDE6B-AS1)
XR_246615.3:n.1257-8A>G (PDE6B-AS1)
NM_001350154.2:c.2T>C (PDE6B)	NP_001337083.1:p.Met1Thr
NM_001350155.2:c.-202T>C (PDE6B)	NP_001337084.1:n.-202T>C
NM_000283.4:c.839T>C (PDE6B) MANE Select	NP_000274.3:p.Met280Thr
NM_001145291.2:c.839T>C (PDE6B)	NP_001138763.2:p.Met280Thr
NM_001145292.2:c.2T>C (PDE6B)	NP_001138764.2:p.Met1Thr
NM_001350154.3:c.2T>C (PDE6B)	NP_001337083.1:p.Met1Thr
NM_001350155.3:c.-202T>C (PDE6B)	NP_001337084.1:n.-202T>C
NM_001379246.1:c.2T>C (PDE6B)	NP_001366175.1:p.Met1Thr
NM_001379247.1:c.2T>C (PDE6B)	NP_001366176.1:p.Met1Thr