Canonical Allele Identifier: CA2794676
Community Standard Title: NM_000283.4(PDE6B):c.1775C>T (p.Thr592Ile)
Gene: PDE6B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.662561C>T , CM000666.2:g.662561C>T GRCh38
NC_000004.11:g.656350C>T , CM000666.1:g.656350C>T GRCh37
NC_000004.10:g.646350C>T NCBI36
NG_009839.1:g.41988C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000283.4:c.1775C>T MANE Select NP_000274.3:p.Thr592Ile
ENST00000496514.6:c.1775C>T MANE Select ENSP00000420295.1:p.Thr592Ile
NM_000283.3:c.1775C>T NP_000274.2:p.Thr592Ile
NM_001145291.1:c.1775C>T NP_001138763.1:p.Thr592Ile
NM_001145291.2:c.1775C>T NP_001138763.2:p.Thr592Ile
NM_001145292.1:c.938C>T NP_001138764.1:p.Thr313Ile
NM_001145292.2:c.938C>T NP_001138764.2:p.Thr313Ile
NM_001350154.1:c.938C>T NP_001337083.1:p.Thr313Ile
NM_001350154.2:c.938C>T NP_001337083.1:p.Thr313Ile
NM_001350154.3:c.938C>T NP_001337083.1:p.Thr313Ile
NM_001350155.1:c.620C>T NP_001337084.1:p.Thr207Ile
NM_001350155.2:c.620C>T NP_001337084.1:p.Thr207Ile
NM_001350155.3:c.620C>T NP_001337084.1:p.Thr207Ile
NM_001379246.1:c.938C>T NP_001366175.1:p.Thr313Ile
NM_001379247.1:c.938C>T NP_001366176.1:p.Thr313Ile
ENST00000255622.10:c.1775C>T ENSP00000255622.6:p.Thr592Ile
ENST00000429163.6:c.938C>T ENSP00000406334.2:p.Thr313Ile
ENST00000496514.5:c.1775C>T ENSP00000420295.1:p.Thr592Ile
XM_011513473.1:c.1994C>T XP_011511775.1:p.Thr665Ile
XM_011513473.3:c.1994C>T XP_011511775.1:p.Thr665Ile
XM_011513474.1:c.1994C>T XP_011511776.1:p.Thr665Ile
XM_011513474.3:c.1994C>T XP_011511776.1:p.Thr665Ile
XM_011513475.1:c.1775C>T XP_011511777.1:p.Thr592Ile
XM_011513475.2:c.1775C>T XP_011511777.1:p.Thr592Ile
XM_011513476.1:c.1994C>T XP_011511778.1:p.Thr665Ile
XM_011513476.3:c.1994C>T XP_011511778.1:p.Thr665Ile
XM_011513477.1:c.980C>T XP_011511779.1:p.Thr327Ile
XM_011513478.1:c.704C>T XP_011511780.1:p.Thr235Ile
XM_011513478.2:c.704C>T XP_011511780.1:p.Thr235Ile
XM_017008284.1:c.938C>T XP_016863773.1:p.Thr313Ile
XM_017008285.1:c.938C>T XP_016863774.1:p.Thr313Ile
XM_017008286.1:c.938C>T XP_016863775.1:p.Thr313Ile
XR_925029.1:n.239G>A