Canonical Allele Identifier: CA324187494

Gene: PLA2G6

Linked Data

• ClinVar Variation Id: 1107362
• ClinVar RCV Id: RCV001432468
• dbSNP Id: rs1027463904
• gnomAD v3: 22-38120806-C-T
• gnomAD v4: 22-38120806-C-T
• MyVariant Identifiers: chr22:g.38516813C>T (hg19) ; chr22:g.38120806C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.38120806C>T , CM000684.2:g.38120806C>T	GRCh38
NC_000022.10:g.38516813C>T , CM000684.1:g.38516813C>T	GRCh37
NC_000022.9:g.36846759C>T	NCBI36
NG_007094.2:g.89885G>A
NG_007094.3:g.98973G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000332509.8:c.1695G>A MANE Select	ENSP00000333142.3:p.Lys565=
ENST00000427114.6:c.999G>A	ENSP00000407743.2:p.Lys333=
ENST00000436218.6:c.*893G>A	ENSP00000401242.1:n.*893G>A
ENST00000655142.1:c.*553G>A	ENSP00000499715.1:n.*553G>A
ENST00000660610.1:c.1695G>A	ENSP00000499555.1:p.Lys565=
ENST00000663895.1:c.1695G>A	ENSP00000499712.1:p.Lys565=
ENST00000664587.1:c.1557G>A	ENSP00000499394.1:p.Lys519=
ENST00000665987.1:c.*1434G>A	ENSP00000499423.1:n.*1434G>A
ENST00000667521.1:c.1695G>A	ENSP00000499665.1:p.Lys565=
ENST00000668208.1:n.1663G>A
ENST00000668499.1:c.*1417G>A	ENSP00000499626.1:n.*1417G>A
ENST00000668949.1:c.1533G>A	ENSP00000499711.1:p.Lys511=
ENST00000671093.1:n.1627G>A
ENST00000673413.1:c.*1364G>A	ENSP00000500600.1:n.*1364G>A
ENST00000332509.7:c.1695G>A	ENSP00000333142.3:p.Lys565=
ENST00000335539.7:c.1533G>A	ENSP00000335149.3:p.Lys511=
ENST00000402064.5:c.1533G>A	ENSP00000386100.1:p.Lys511=
ENST00000448094.5:c.*300G>A	ENSP00000407106.1:n.*300G>A
ENST00000454670.1:c.340G>A
ENST00000491986.1:n.706G>A
ENST00000496409.1:n.235G>A
NM_001004426.1:c.1533G>A	NP_001004426.1:p.Lys511=
NM_001199562.1:c.1533G>A	NP_001186491.1:p.Lys511=
NM_003560.2:c.1695G>A	NP_003551.2:p.Lys565=
XM_005261764.1:c.1695G>A	XP_005261821.1:p.Lys565=
XM_005261765.1:c.1695G>A	XP_005261822.1:p.Lys565=
XM_005261766.1:c.1695G>A	XP_005261823.1:p.Lys565=
XM_006724332.2:c.1695G>A	XP_006724395.1:p.Lys565=
XM_011530422.1:c.1590G>A	XP_011528724.1:p.Lys530=
XM_011530423.1:c.1161G>A	XP_011528725.1:p.Lys387=
XM_011530424.1:c.1161G>A	XP_011528726.1:p.Lys387=
XM_011530425.1:c.1161G>A	XP_011528727.1:p.Lys387=
XM_011530426.1:c.1695G>A	XP_011528728.1:p.Lys565=
XR_244390.1:n.1803G>A
XR_430411.1:n.1855G>A
XR_937937.1:n.1803G>A
XR_937938.1:n.1889G>A
XR_937939.1:n.1855G>A
NM_001004426.2:c.1533G>A	NP_001004426.1:p.Lys511=
NM_001199562.2:c.1533G>A	NP_001186491.1:p.Lys511=
NM_001349864.1:c.1695G>A	NP_001336793.1:p.Lys565=
NM_001349865.1:c.1533G>A	NP_001336794.1:p.Lys511=
NM_001349866.1:c.1533G>A	NP_001336795.1:p.Lys511=
NM_001349867.1:c.1161G>A	NP_001336796.1:p.Lys387=
NM_001349868.1:c.1017G>A	NP_001336797.1:p.Lys339=
NM_001349869.1:c.999G>A	NP_001336798.1:p.Lys333=
NM_003560.3:c.1695G>A	NP_003551.2:p.Lys565=
XM_005261764.3:c.1695G>A	XP_005261821.1:p.Lys565=
XM_005261765.2:c.1695G>A	XP_005261822.1:p.Lys565=
XM_006724332.4:c.1695G>A	XP_006724395.1:p.Lys565=
XM_011530426.3:c.1695G>A	XP_011528728.1:p.Lys565=
XM_017028983.1:c.999G>A	XP_016884472.1:p.Lys333=
XM_017028986.2:c.1533G>A	XP_016884475.1:p.Lys511=
XM_024452280.1:c.1161G>A	XP_024308048.1:p.Lys387=
XM_024452281.1:c.1161G>A	XP_024308049.1:p.Lys387=
XM_024452282.1:c.1161G>A	XP_024308050.1:p.Lys387=
XM_024452283.1:c.1017G>A	XP_024308051.1:p.Lys339=
XM_024452284.1:c.999G>A	XP_024308052.1:p.Lys333=
XM_024452285.1:c.999G>A	XP_024308053.1:p.Lys333=
XR_001755325.2:n.1787G>A
XR_001755327.2:n.1873G>A
XR_001755328.2:n.1839G>A
XR_244390.3:n.1787G>A
XR_937938.3:n.1873G>A
XR_937939.3:n.1839G>A
NM_001199562.3:c.1533G>A	NP_001186491.1:p.Lys511=
NM_001349864.2:c.1695G>A	NP_001336793.1:p.Lys565=
NM_001349865.2:c.1533G>A	NP_001336794.1:p.Lys511=
NM_001349866.2:c.1533G>A	NP_001336795.1:p.Lys511=
NM_001349867.2:c.1161G>A	NP_001336796.1:p.Lys387=
NM_001349868.2:c.1017G>A	NP_001336797.1:p.Lys339=
NM_001349869.2:c.999G>A	NP_001336798.1:p.Lys333=
NM_003560.4:c.1695G>A MANE Select	NP_003551.2:p.Lys565=
NM_001004426.3:c.1533G>A	NP_001004426.1:p.Lys511=