Canonical Allele Identifier: CA355919813

Gene: PDE6B

Linked Data

• ClinVar Variation Id: 2821575
• ClinVar RCV Id: RCV003711701
• MyVariant Identifiers: chr4:g.658731A>G (hg19) ; chr4:g.664942A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.664942A>G , CM000666.2:g.664942A>G	GRCh38
NC_000004.11:g.658731A>G , CM000666.1:g.658731A>G	GRCh37
NC_000004.10:g.648731A>G	NCBI36
NG_009839.1:g.44369A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.2191A>G MANE Select	ENSP00000420295.1:p.Lys731Glu
ENST00000255622.10:c.2191A>G	ENSP00000255622.6:p.Lys731Glu
ENST00000429163.6:c.1354A>G	ENSP00000406334.2:p.Lys452Glu
ENST00000461490.1:c.33A>G
ENST00000471824.6:c.271A>G	ENSP00000417852.2:p.Lys91Glu
ENST00000496514.5:c.2191A>G	ENSP00000420295.1:p.Lys731Glu
NM_000283.3:c.2191A>G	NP_000274.2:p.Lys731Glu
NM_001145291.1:c.2191A>G	NP_001138763.1:p.Lys731Glu
NM_001145292.1:c.1354A>G	NP_001138764.1:p.Lys452Glu
XM_011513473.1:c.2410A>G	XP_011511775.1:p.Lys804Glu
XM_011513474.1:c.2410A>G	XP_011511776.1:p.Lys804Glu
XM_011513475.1:c.2191A>G	XP_011511777.1:p.Lys731Glu
XM_011513476.1:c.2410A>G	XP_011511778.1:p.Lys804Glu
XM_011513477.1:c.1396A>G	XP_011511779.1:p.Lys466Glu
XM_011513478.1:c.1120A>G	XP_011511780.1:p.Lys374Glu
NM_001350154.1:c.1354A>G	NP_001337083.1:p.Lys452Glu
NM_001350155.1:c.1036A>G	NP_001337084.1:p.Lys346Glu
XM_011513473.3:c.2410A>G	XP_011511775.1:p.Lys804Glu
XM_011513474.3:c.2410A>G	XP_011511776.1:p.Lys804Glu
XM_011513475.2:c.2191A>G	XP_011511777.1:p.Lys731Glu
XM_011513476.3:c.2410A>G	XP_011511778.1:p.Lys804Glu
XM_011513478.2:c.1120A>G	XP_011511780.1:p.Lys374Glu
XM_017008284.1:c.1354A>G	XP_016863773.1:p.Lys452Glu
XM_017008285.1:c.1354A>G	XP_016863774.1:p.Lys452Glu
XM_017008286.1:c.1354A>G	XP_016863775.1:p.Lys452Glu
NM_001350154.2:c.1354A>G	NP_001337083.1:p.Lys452Glu
NM_001350155.2:c.1036A>G	NP_001337084.1:p.Lys346Glu
NM_000283.4:c.2191A>G MANE Select	NP_000274.3:p.Lys731Glu
NM_001145291.2:c.2191A>G	NP_001138763.2:p.Lys731Glu
NM_001145292.2:c.1354A>G	NP_001138764.2:p.Lys452Glu
NM_001350154.3:c.1354A>G	NP_001337083.1:p.Lys452Glu
NM_001350155.3:c.1036A>G	NP_001337084.1:p.Lys346Glu
NM_001379246.1:c.1354A>G	NP_001366175.1:p.Lys452Glu
NM_001379247.1:c.1354A>G	NP_001366176.1:p.Lys452Glu