Canonical Allele Identifier: CA411524696
Gene: PLA2G6 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.38115583G>T , CM000684.2:g.38115583G>T GRCh38
NC_000022.10:g.38511590G>T , CM000684.1:g.38511590G>T GRCh37
NC_000022.9:g.36841536G>T NCBI36
NG_007094.2:g.95108C>A
NG_033059.2:g.87C>A
NG_007094.3:g.104196C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000332509.8:c.1978C>A MANE Select ENSP00000333142.3:p.Pro660Thr
ENST00000427114.6:c.1282C>A ENSP00000407743.2:p.Pro428Thr
ENST00000436218.6:c.*1176C>A ENSP00000401242.1:n.*1176C>A
ENST00000655142.1:c.*836C>A ENSP00000499715.1:n.*836C>A
ENST00000660610.1:c.1978C>A ENSP00000499555.1:p.Pro660Thr
ENST00000663895.1:c.1978C>A ENSP00000499712.1:p.Pro660Thr
ENST00000664587.1:c.1840C>A ENSP00000499394.1:p.Pro614Thr
ENST00000665987.1:c.*1717C>A ENSP00000499423.1:n.*1717C>A
ENST00000667521.1:c.1978C>A ENSP00000499665.1:p.Pro660Thr
ENST00000668499.1:c.*1700C>A ENSP00000499626.1:n.*1700C>A
ENST00000668949.1:c.1816C>A ENSP00000499711.1:p.Pro606Thr
ENST00000671093.1:n.1910C>A
ENST00000673413.1:c.*1647C>A ENSP00000500600.1:n.*1647C>A
ENST00000332509.7:c.1978C>A ENSP00000333142.3:p.Pro660Thr
ENST00000335539.7:c.1816C>A ENSP00000335149.3:p.Pro606Thr
ENST00000402064.5:c.1816C>A ENSP00000386100.1:p.Pro606Thr
ENST00000454670.1:c.714C>A
ENST00000496409.1:n.686C>A
NM_001004426.1:c.1816C>A NP_001004426.1:p.Pro606Thr
NM_001199562.1:c.1816C>A NP_001186491.1:p.Pro606Thr
NM_003560.2:c.1978C>A NP_003551.2:p.Pro660Thr
XM_005261764.1:c.1978C>A XP_005261821.1:p.Pro660Thr
XM_005261765.1:c.1978C>A XP_005261822.1:p.Pro660Thr
XM_005261766.1:c.1978C>A XP_005261823.1:p.Pro660Thr
XM_006724332.2:c.1978C>A XP_006724395.1:p.Pro660Thr
XM_011530422.1:c.1873C>A XP_011528724.1:p.Pro625Thr
XM_011530423.1:c.1444C>A XP_011528725.1:p.Pro482Thr
XM_011530424.1:c.1444C>A XP_011528726.1:p.Pro482Thr
XM_011530425.1:c.1444C>A XP_011528727.1:p.Pro482Thr
XR_244390.1:n.2254C>A
XR_430411.1:n.2138C>A
XR_937937.1:n.2177C>A
XR_937938.1:n.2340C>A
XR_937939.1:n.2229C>A
NM_001004426.2:c.1816C>A NP_001004426.1:p.Pro606Thr
NM_001199562.2:c.1816C>A NP_001186491.1:p.Pro606Thr
NM_001349864.1:c.1978C>A NP_001336793.1:p.Pro660Thr
NM_001349865.1:c.1816C>A NP_001336794.1:p.Pro606Thr
NM_001349866.1:c.1816C>A NP_001336795.1:p.Pro606Thr
NM_001349867.1:c.1444C>A NP_001336796.1:p.Pro482Thr
NM_001349868.1:c.1300C>A NP_001336797.1:p.Pro434Thr
NM_001349869.1:c.1282C>A NP_001336798.1:p.Pro428Thr
NM_003560.3:c.1978C>A NP_003551.2:p.Pro660Thr
XM_005261764.3:c.1978C>A XP_005261821.1:p.Pro660Thr
XM_005261765.2:c.1978C>A XP_005261822.1:p.Pro660Thr
XM_006724332.4:c.1978C>A XP_006724395.1:p.Pro660Thr
XM_017028983.1:c.1282C>A XP_016884472.1:p.Pro428Thr
XM_024452280.1:c.1444C>A XP_024308048.1:p.Pro482Thr
XM_024452281.1:c.1444C>A XP_024308049.1:p.Pro482Thr
XM_024452282.1:c.1444C>A XP_024308050.1:p.Pro482Thr
XM_024452283.1:c.1300C>A XP_024308051.1:p.Pro434Thr
XM_024452284.1:c.1282C>A XP_024308052.1:p.Pro428Thr
XM_024452285.1:c.1282C>A XP_024308053.1:p.Pro428Thr
XR_001755325.2:n.2161C>A
XR_001755327.2:n.2156C>A
XR_001755328.2:n.2122C>A
XR_244390.3:n.2238C>A
XR_937938.3:n.2324C>A
XR_937939.3:n.2213C>A
NM_001199562.3:c.1816C>A NP_001186491.1:p.Pro606Thr
NM_001349864.2:c.1978C>A NP_001336793.1:p.Pro660Thr
NM_001349865.2:c.1816C>A NP_001336794.1:p.Pro606Thr
NM_001349866.2:c.1816C>A NP_001336795.1:p.Pro606Thr
NM_001349867.2:c.1444C>A NP_001336796.1:p.Pro482Thr
NM_001349868.2:c.1300C>A NP_001336797.1:p.Pro434Thr
NM_001349869.2:c.1282C>A NP_001336798.1:p.Pro428Thr
NM_003560.4:c.1978C>A MANE Select NP_003551.2:p.Pro660Thr
NM_001004426.3:c.1816C>A NP_001004426.1:p.Pro606Thr