Canonical Allele Identifier: CA16608660
Gene: PLA2G6 HGNC NCBI

Linked Data

ClinVar Variation Id: 381614
ClinVar RCV Id: RCV000426257
dbSNP Id: rs1057521104

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.38145459A>G , CM000684.2:g.38145459A>G GRCh38
NC_000022.10:g.38541466A>G , CM000684.1:g.38541466A>G GRCh37
NC_000022.9:g.36871412A>G NCBI36
NG_007094.2:g.65232T>C
NG_007094.3:g.74320T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000332509.8:c.404T>C MANE Select ENSP00000333142.3:p.Phe135Ser
ENST00000427114.6:c.-131T>C ENSP00000407743.2:n.-131T>C
ENST00000436218.6:c.404T>C ENSP00000401242.1:p.Phe135Ser
ENST00000655142.1:c.404T>C ENSP00000499715.1:p.Phe135Ser
ENST00000660610.1:c.404T>C ENSP00000499555.1:p.Phe135Ser
ENST00000663895.1:c.404T>C ENSP00000499712.1:p.Phe135Ser
ENST00000664587.1:c.404T>C ENSP00000499394.1:p.Phe135Ser
ENST00000665987.1:c.*305T>C ENSP00000499423.1:n.*305T>C
ENST00000667521.1:c.404T>C ENSP00000499665.1:p.Phe135Ser
ENST00000668208.1:n.534T>C
ENST00000668499.1:c.*235T>C ENSP00000499626.1:n.*235T>C
ENST00000668949.1:c.404T>C ENSP00000499711.1:p.Phe135Ser
ENST00000671093.1:n.498T>C
ENST00000673413.1:c.*235T>C ENSP00000500600.1:n.*235T>C
ENST00000332509.7:c.404T>C ENSP00000333142.3:p.Phe135Ser
ENST00000335539.7:c.404T>C ENSP00000335149.3:p.Phe135Ser
ENST00000402064.5:c.404T>C ENSP00000386100.1:p.Phe135Ser
ENST00000427114.5:c.6T>C
ENST00000430886.5:c.210-2171T>C ENSP00000395464.1:n.210-2171T>C
ENST00000436218.5:c.404T>C ENSP00000401242.1:p.Phe135Ser
ENST00000445591.5:n.453T>C
ENST00000452972.1:n.368T>C
ENST00000471636.5:n.376+104T>C
ENST00000479641.5:n.330T>C
NM_001004426.1:c.404T>C NP_001004426.1:p.Phe135Ser
NM_001199562.1:c.404T>C NP_001186491.1:p.Phe135Ser
NM_003560.2:c.404T>C NP_003551.2:p.Phe135Ser
XM_005261764.1:c.404T>C XP_005261821.1:p.Phe135Ser
XM_005261765.1:c.404T>C XP_005261822.1:p.Phe135Ser
XM_005261766.1:c.404T>C XP_005261823.1:p.Phe135Ser
XM_005261771.3:c.404T>C XP_005261828.1:p.Phe135Ser
XM_006724332.2:c.404T>C XP_006724395.1:p.Phe135Ser
XM_011530422.1:c.404T>C XP_011528724.1:p.Phe135Ser
XM_011530423.1:c.-131T>C XP_011528725.1:n.-131T>C
XM_011530424.1:c.-131T>C XP_011528726.1:n.-131T>C
XM_011530425.1:c.-214T>C XP_011528727.1:n.-214T>C
XM_011530426.1:c.404T>C XP_011528728.1:p.Phe135Ser
XM_011530427.1:c.404T>C XP_011528729.1:p.Phe135Ser
XM_011530428.1:c.404T>C XP_011528730.1:p.Phe135Ser
XR_244390.1:n.512T>C
XR_244392.1:n.512T>C
XR_430411.1:n.512T>C
XR_430412.1:n.512T>C
XR_937937.1:n.512T>C
XR_937938.1:n.512T>C
XR_937939.1:n.512T>C
XR_937940.1:n.512T>C
NM_001004426.2:c.404T>C NP_001004426.1:p.Phe135Ser
NM_001199562.2:c.404T>C NP_001186491.1:p.Phe135Ser
NM_001349864.1:c.404T>C NP_001336793.1:p.Phe135Ser
NM_001349865.1:c.404T>C NP_001336794.1:p.Phe135Ser
NM_001349866.1:c.404T>C NP_001336795.1:p.Phe135Ser
NM_001349867.1:c.-131T>C NP_001336796.1:n.-131T>C
NM_001349868.1:c.-87T>C NP_001336797.1:n.-87T>C
NM_001349869.1:c.-131T>C NP_001336798.1:n.-131T>C
NM_003560.3:c.404T>C NP_003551.2:p.Phe135Ser
XM_005261764.3:c.404T>C XP_005261821.1:p.Phe135Ser
XM_005261765.2:c.404T>C XP_005261822.1:p.Phe135Ser
XM_006724332.4:c.404T>C XP_006724395.1:p.Phe135Ser
XM_011530426.3:c.404T>C XP_011528728.1:p.Phe135Ser
XM_017028983.1:c.-131T>C XP_016884472.1:n.-131T>C
XM_017028986.2:c.404T>C XP_016884475.1:p.Phe135Ser
XM_017028987.2:c.404T>C XP_016884476.1:p.Phe135Ser
XM_017028988.2:c.404T>C XP_016884477.1:p.Phe135Ser
XM_024452280.1:c.-131T>C XP_024308048.1:n.-131T>C
XM_024452281.1:c.-131T>C XP_024308049.1:n.-131T>C
XM_024452282.1:c.-131T>C XP_024308050.1:n.-131T>C
XM_024452283.1:c.-87T>C XP_024308051.1:n.-87T>C
XM_024452284.1:c.-131T>C XP_024308052.1:n.-131T>C
XM_024452285.1:c.-131T>C XP_024308053.1:n.-131T>C
XR_001755325.2:n.496T>C
XR_001755327.2:n.496T>C
XR_001755328.2:n.496T>C
XR_244390.3:n.496T>C
XR_937938.3:n.496T>C
XR_937939.3:n.496T>C
XR_937940.3:n.496T>C
NM_001199562.3:c.404T>C NP_001186491.1:p.Phe135Ser
NM_001349864.2:c.404T>C NP_001336793.1:p.Phe135Ser
NM_001349865.2:c.404T>C NP_001336794.1:p.Phe135Ser
NM_001349866.2:c.404T>C NP_001336795.1:p.Phe135Ser
NM_001349867.2:c.-131T>C NP_001336796.1:n.-131T>C
NM_001349868.2:c.-87T>C NP_001336797.1:n.-87T>C
NM_001349869.2:c.-131T>C NP_001336798.1:n.-131T>C
NM_003560.4:c.404T>C MANE Select NP_003551.2:p.Phe135Ser
NM_001004426.3:c.404T>C NP_001004426.1:p.Phe135Ser