Canonical Allele Identifier: CA2794577

Gene: PDE6B

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.660579T>C , CM000666.2:g.660579T>C	GRCh38
NC_000004.11:g.654368T>C , CM000666.1:g.654368T>C	GRCh37
NC_000004.10:g.644368T>C	NCBI36
NG_009839.1:g.40006T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.1580T>C MANE Select	ENSP00000420295.1:p.Leu527Pro
ENST00000255622.10:c.1580T>C	ENSP00000255622.6:p.Leu527Pro
ENST00000429163.6:c.743T>C	ENSP00000406334.2:p.Leu248Pro
ENST00000496514.5:c.1580T>C	ENSP00000420295.1:p.Leu527Pro
NM_000283.3:c.1580T>C	NP_000274.2:p.Leu527Pro
NM_001145291.1:c.1580T>C	NP_001138763.1:p.Leu527Pro
NM_001145292.1:c.743T>C	NP_001138764.1:p.Leu248Pro
XM_011513473.1:c.1799T>C	XP_011511775.1:p.Leu600Pro
XM_011513474.1:c.1799T>C	XP_011511776.1:p.Leu600Pro
XM_011513475.1:c.1580T>C	XP_011511777.1:p.Leu527Pro
XM_011513476.1:c.1799T>C	XP_011511778.1:p.Leu600Pro
XM_011513477.1:c.785T>C	XP_011511779.1:p.Leu262Pro
XM_011513478.1:c.509T>C	XP_011511780.1:p.Leu170Pro
NM_001350154.1:c.743T>C	NP_001337083.1:p.Leu248Pro
NM_001350155.1:c.425T>C	NP_001337084.1:p.Leu142Pro
XM_011513473.3:c.1799T>C	XP_011511775.1:p.Leu600Pro
XM_011513474.3:c.1799T>C	XP_011511776.1:p.Leu600Pro
XM_011513475.2:c.1580T>C	XP_011511777.1:p.Leu527Pro
XM_011513476.3:c.1799T>C	XP_011511778.1:p.Leu600Pro
XM_011513478.2:c.509T>C	XP_011511780.1:p.Leu170Pro
XM_017008284.1:c.743T>C	XP_016863773.1:p.Leu248Pro
XM_017008285.1:c.743T>C	XP_016863774.1:p.Leu248Pro
XM_017008286.1:c.743T>C	XP_016863775.1:p.Leu248Pro
NM_001350154.2:c.743T>C	NP_001337083.1:p.Leu248Pro
NM_001350155.2:c.425T>C	NP_001337084.1:p.Leu142Pro
NM_000283.4:c.1580T>C MANE Select	NP_000274.3:p.Leu527Pro
NM_001145291.2:c.1580T>C	NP_001138763.2:p.Leu527Pro
NM_001145292.2:c.743T>C	NP_001138764.2:p.Leu248Pro
NM_001350154.3:c.743T>C	NP_001337083.1:p.Leu248Pro
NM_001350155.3:c.425T>C	NP_001337084.1:p.Leu142Pro
NM_001379246.1:c.743T>C	NP_001366175.1:p.Leu248Pro
NM_001379247.1:c.743T>C	NP_001366176.1:p.Leu248Pro