Canonical Allele Identifier: CA16621121
Gene: PLA2G6 HGNC NCBI

Linked Data

ClinVar Variation Id: 423516
dbSNP Id: rs1064796469

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.38123090C>G , CM000684.2:g.38123090C>G GRCh38
NC_000022.10:g.38519097C>G , CM000684.1:g.38519097C>G GRCh37
NC_000022.9:g.36849043C>G NCBI36
NG_007094.2:g.87601G>C
NG_007094.3:g.96689G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000332509.8:c.1591+5G>C MANE Select ENSP00000333142.3:n.1591+5G>C
ENST00000427114.6:c.895+5G>C ENSP00000407743.2:n.895+5G>C
ENST00000436218.6:c.*789+5G>C ENSP00000401242.1:n.*789+5G>C
ENST00000655142.1:c.*449+5G>C ENSP00000499715.1:n.*449+5G>C
ENST00000660610.1:c.1591+5G>C ENSP00000499555.1:n.1591+5G>C
ENST00000663895.1:c.1591+5G>C ENSP00000499712.1:n.1591+5G>C
ENST00000664587.1:c.1453+5G>C ENSP00000499394.1:n.1453+5G>C
ENST00000665987.1:c.*1330+5G>C ENSP00000499423.1:n.*1330+5G>C
ENST00000667521.1:c.1591+5G>C ENSP00000499665.1:n.1591+5G>C
ENST00000668208.1:n.1559+5G>C
ENST00000668499.1:c.*1313+5G>C ENSP00000499626.1:n.*1313+5G>C
ENST00000668949.1:c.1429+5G>C ENSP00000499711.1:n.1429+5G>C
ENST00000671093.1:n.1523+5G>C
ENST00000673413.1:c.*1260+5G>C ENSP00000500600.1:n.*1260+5G>C
ENST00000332509.7:c.1591+5G>C ENSP00000333142.3:n.1591+5G>C
ENST00000335539.7:c.1429+5G>C ENSP00000335149.3:n.1429+5G>C
ENST00000402064.5:c.1429+5G>C ENSP00000386100.1:n.1429+5G>C
ENST00000448094.5:c.*196+5G>C ENSP00000407106.1:n.*196+5G>C
ENST00000454670.1:c.236+5G>C
ENST00000491986.1:n.602+5G>C
NM_001004426.1:c.1429+5G>C NP_001004426.1:n.1429+5G>C
NM_001199562.1:c.1429+5G>C NP_001186491.1:n.1429+5G>C
NM_003560.2:c.1591+5G>C NP_003551.2:n.1591+5G>C
XM_005261764.1:c.1591+5G>C XP_005261821.1:n.1591+5G>C
XM_005261765.1:c.1591+5G>C XP_005261822.1:n.1591+5G>C
XM_005261766.1:c.1591+5G>C XP_005261823.1:n.1591+5G>C
XM_006724332.2:c.1591+5G>C XP_006724395.1:n.1591+5G>C
XM_011530422.1:c.1486+5G>C XP_011528724.1:n.1486+5G>C
XM_011530423.1:c.1057+5G>C XP_011528725.1:n.1057+5G>C
XM_011530424.1:c.1057+5G>C XP_011528726.1:n.1057+5G>C
XM_011530425.1:c.1057+5G>C XP_011528727.1:n.1057+5G>C
XM_011530426.1:c.1591+5G>C XP_011528728.1:n.1591+5G>C
XR_244390.1:n.1699+5G>C
XR_244392.1:n.1752+5G>C
XR_430411.1:n.1751+5G>C
XR_430412.1:n.1804+5G>C
XR_937937.1:n.1699+5G>C
XR_937938.1:n.1699+5G>C
XR_937939.1:n.1751+5G>C
XR_937940.1:n.1751+5G>C
NM_001004426.2:c.1429+5G>C NP_001004426.1:n.1429+5G>C
NM_001199562.2:c.1429+5G>C NP_001186491.1:n.1429+5G>C
NM_001349864.1:c.1591+5G>C NP_001336793.1:n.1591+5G>C
NM_001349865.1:c.1429+5G>C NP_001336794.1:n.1429+5G>C
NM_001349866.1:c.1429+5G>C NP_001336795.1:n.1429+5G>C
NM_001349867.1:c.1057+5G>C NP_001336796.1:n.1057+5G>C
NM_001349868.1:c.913+5G>C NP_001336797.1:n.913+5G>C
NM_001349869.1:c.895+5G>C NP_001336798.1:n.895+5G>C
NM_003560.3:c.1591+5G>C NP_003551.2:n.1591+5G>C
XM_005261764.3:c.1591+5G>C XP_005261821.1:n.1591+5G>C
XM_005261765.2:c.1591+5G>C XP_005261822.1:n.1591+5G>C
XM_006724332.4:c.1591+5G>C XP_006724395.1:n.1591+5G>C
XM_011530426.3:c.1591+5G>C XP_011528728.1:n.1591+5G>C
XM_017028983.1:c.895+5G>C XP_016884472.1:n.895+5G>C
XM_017028986.2:c.1429+5G>C XP_016884475.1:n.1429+5G>C
XM_024452280.1:c.1057+5G>C XP_024308048.1:n.1057+5G>C
XM_024452281.1:c.1057+5G>C XP_024308049.1:n.1057+5G>C
XM_024452282.1:c.1057+5G>C XP_024308050.1:n.1057+5G>C
XM_024452283.1:c.913+5G>C XP_024308051.1:n.913+5G>C
XM_024452284.1:c.895+5G>C XP_024308052.1:n.895+5G>C
XM_024452285.1:c.895+5G>C XP_024308053.1:n.895+5G>C
XR_001755325.2:n.1683+5G>C
XR_001755327.2:n.1683+5G>C
XR_001755328.2:n.1735+5G>C
XR_244390.3:n.1683+5G>C
XR_937938.3:n.1683+5G>C
XR_937939.3:n.1735+5G>C
XR_937940.3:n.1735+5G>C
NM_001199562.3:c.1429+5G>C NP_001186491.1:n.1429+5G>C
NM_001349864.2:c.1591+5G>C NP_001336793.1:n.1591+5G>C
NM_001349865.2:c.1429+5G>C NP_001336794.1:n.1429+5G>C
NM_001349866.2:c.1429+5G>C NP_001336795.1:n.1429+5G>C
NM_001349867.2:c.1057+5G>C NP_001336796.1:n.1057+5G>C
NM_001349868.2:c.913+5G>C NP_001336797.1:n.913+5G>C
NM_001349869.2:c.895+5G>C NP_001336798.1:n.895+5G>C
NM_003560.4:c.1591+5G>C MANE Select NP_003551.2:n.1591+5G>C
NM_001004426.3:c.1429+5G>C NP_001004426.1:n.1429+5G>C