Canonical Allele Identifier: CA355916145
Gene: PDE6B HGNC NCBI

Linked Data

ClinVar Variation Id: 438190
ClinVar RCV Id: RCV000504664
dbSNP Id: rs1553812554
gnomAD v4: 4-660546-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.660546T>C , CM000666.2:g.660546T>C GRCh38
NC_000004.11:g.654335T>C , CM000666.1:g.654335T>C GRCh37
NC_000004.10:g.644335T>C NCBI36
NG_009839.1:g.39973T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000496514.6:c.1547T>C MANE Select ENSP00000420295.1:p.Leu516Pro
ENST00000255622.10:c.1547T>C ENSP00000255622.6:p.Leu516Pro
ENST00000429163.6:c.710T>C ENSP00000406334.2:p.Leu237Pro
ENST00000496514.5:c.1547T>C ENSP00000420295.1:p.Leu516Pro
NM_000283.3:c.1547T>C NP_000274.2:p.Leu516Pro
NM_001145291.1:c.1547T>C NP_001138763.1:p.Leu516Pro
NM_001145292.1:c.710T>C NP_001138764.1:p.Leu237Pro
XM_011513473.1:c.1766T>C XP_011511775.1:p.Leu589Pro
XM_011513474.1:c.1766T>C XP_011511776.1:p.Leu589Pro
XM_011513475.1:c.1547T>C XP_011511777.1:p.Leu516Pro
XM_011513476.1:c.1766T>C XP_011511778.1:p.Leu589Pro
XM_011513477.1:c.752T>C XP_011511779.1:p.Leu251Pro
XM_011513478.1:c.476T>C XP_011511780.1:p.Leu159Pro
NM_001350154.1:c.710T>C NP_001337083.1:p.Leu237Pro
NM_001350155.1:c.392T>C NP_001337084.1:p.Leu131Pro
XM_011513473.3:c.1766T>C XP_011511775.1:p.Leu589Pro
XM_011513474.3:c.1766T>C XP_011511776.1:p.Leu589Pro
XM_011513475.2:c.1547T>C XP_011511777.1:p.Leu516Pro
XM_011513476.3:c.1766T>C XP_011511778.1:p.Leu589Pro
XM_011513478.2:c.476T>C XP_011511780.1:p.Leu159Pro
XM_017008284.1:c.710T>C XP_016863773.1:p.Leu237Pro
XM_017008285.1:c.710T>C XP_016863774.1:p.Leu237Pro
XM_017008286.1:c.710T>C XP_016863775.1:p.Leu237Pro
NM_001350154.2:c.710T>C NP_001337083.1:p.Leu237Pro
NM_001350155.2:c.392T>C NP_001337084.1:p.Leu131Pro
NM_000283.4:c.1547T>C MANE Select NP_000274.3:p.Leu516Pro
NM_001145291.2:c.1547T>C NP_001138763.2:p.Leu516Pro
NM_001145292.2:c.710T>C NP_001138764.2:p.Leu237Pro
NM_001350154.3:c.710T>C NP_001337083.1:p.Leu237Pro
NM_001350155.3:c.392T>C NP_001337084.1:p.Leu131Pro
NM_001379246.1:c.710T>C NP_001366175.1:p.Leu237Pro
NM_001379247.1:c.710T>C NP_001366176.1:p.Leu237Pro