Canonical Allele Identifier: CA411527927

Gene: PLA2G6

Linked Data

• gnomAD v4: 22-38123173-C-A
• MyVariant Identifiers: chr22:g.38519180C>A (hg19) ; chr22:g.38123173C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.38123173C>A , CM000684.2:g.38123173C>A	GRCh38
NC_000022.10:g.38519180C>A , CM000684.1:g.38519180C>A	GRCh37
NC_000022.9:g.36849126C>A	NCBI36
NG_007094.2:g.87518G>T
NG_007094.3:g.96606G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332509.8:c.1513G>T MANE Select	ENSP00000333142.3:p.Gly505Cys
ENST00000427114.6:c.817G>T	ENSP00000407743.2:p.Gly273Cys
ENST00000436218.6:c.*711G>T	ENSP00000401242.1:n.*711G>T
ENST00000655142.1:c.*371G>T	ENSP00000499715.1:n.*371G>T
ENST00000660610.1:c.1513G>T	ENSP00000499555.1:p.Gly505Cys
ENST00000663895.1:c.1513G>T	ENSP00000499712.1:p.Gly505Cys
ENST00000664587.1:c.1375G>T	ENSP00000499394.1:p.Gly459Cys
ENST00000665987.1:c.*1252G>T	ENSP00000499423.1:n.*1252G>T
ENST00000667521.1:c.1513G>T	ENSP00000499665.1:p.Gly505Cys
ENST00000668208.1:n.1481G>T
ENST00000668499.1:c.*1235G>T	ENSP00000499626.1:n.*1235G>T
ENST00000668949.1:c.1351G>T	ENSP00000499711.1:p.Gly451Cys
ENST00000671093.1:n.1445G>T
ENST00000673413.1:c.*1182G>T	ENSP00000500600.1:n.*1182G>T
ENST00000332509.7:c.1513G>T	ENSP00000333142.3:p.Gly505Cys
ENST00000335539.7:c.1351G>T	ENSP00000335149.3:p.Gly451Cys
ENST00000402064.5:c.1351G>T	ENSP00000386100.1:p.Gly451Cys
ENST00000448094.5:c.*118G>T	ENSP00000407106.1:n.*118G>T
ENST00000454670.1:c.158G>T
ENST00000491986.1:n.524G>T
NM_001004426.1:c.1351G>T	NP_001004426.1:p.Gly451Cys
NM_001199562.1:c.1351G>T	NP_001186491.1:p.Gly451Cys
NM_003560.2:c.1513G>T	NP_003551.2:p.Gly505Cys
XM_005261764.1:c.1513G>T	XP_005261821.1:p.Gly505Cys
XM_005261765.1:c.1513G>T	XP_005261822.1:p.Gly505Cys
XM_005261766.1:c.1513G>T	XP_005261823.1:p.Gly505Cys
XM_006724332.2:c.1513G>T	XP_006724395.1:p.Gly505Cys
XM_011530422.1:c.1408G>T	XP_011528724.1:p.Gly470Cys
XM_011530423.1:c.979G>T	XP_011528725.1:p.Gly327Cys
XM_011530424.1:c.979G>T	XP_011528726.1:p.Gly327Cys
XM_011530425.1:c.979G>T	XP_011528727.1:p.Gly327Cys
XM_011530426.1:c.1513G>T	XP_011528728.1:p.Gly505Cys
XR_244390.1:n.1621G>T
XR_244392.1:n.1674G>T
XR_430411.1:n.1673G>T
XR_430412.1:n.1726G>T
XR_937937.1:n.1621G>T
XR_937938.1:n.1621G>T
XR_937939.1:n.1673G>T
XR_937940.1:n.1673G>T
NM_001004426.2:c.1351G>T	NP_001004426.1:p.Gly451Cys
NM_001199562.2:c.1351G>T	NP_001186491.1:p.Gly451Cys
NM_001349864.1:c.1513G>T	NP_001336793.1:p.Gly505Cys
NM_001349865.1:c.1351G>T	NP_001336794.1:p.Gly451Cys
NM_001349866.1:c.1351G>T	NP_001336795.1:p.Gly451Cys
NM_001349867.1:c.979G>T	NP_001336796.1:p.Gly327Cys
NM_001349868.1:c.835G>T	NP_001336797.1:p.Gly279Cys
NM_001349869.1:c.817G>T	NP_001336798.1:p.Gly273Cys
NM_003560.3:c.1513G>T	NP_003551.2:p.Gly505Cys
XM_005261764.3:c.1513G>T	XP_005261821.1:p.Gly505Cys
XM_005261765.2:c.1513G>T	XP_005261822.1:p.Gly505Cys
XM_006724332.4:c.1513G>T	XP_006724395.1:p.Gly505Cys
XM_011530426.3:c.1513G>T	XP_011528728.1:p.Gly505Cys
XM_017028983.1:c.817G>T	XP_016884472.1:p.Gly273Cys
XM_017028986.2:c.1351G>T	XP_016884475.1:p.Gly451Cys
XM_017028987.2:c.*118G>T	XP_016884476.1:n.*118G>T
XM_017028988.2:c.*126G>T	XP_016884477.1:n.*126G>T
XM_024452280.1:c.979G>T	XP_024308048.1:p.Gly327Cys
XM_024452281.1:c.979G>T	XP_024308049.1:p.Gly327Cys
XM_024452282.1:c.979G>T	XP_024308050.1:p.Gly327Cys
XM_024452283.1:c.835G>T	XP_024308051.1:p.Gly279Cys
XM_024452284.1:c.817G>T	XP_024308052.1:p.Gly273Cys
XM_024452285.1:c.817G>T	XP_024308053.1:p.Gly273Cys
XR_001755325.2:n.1605G>T
XR_001755327.2:n.1605G>T
XR_001755328.2:n.1657G>T
XR_244390.3:n.1605G>T
XR_937938.3:n.1605G>T
XR_937939.3:n.1657G>T
XR_937940.3:n.1657G>T
NM_001199562.3:c.1351G>T	NP_001186491.1:p.Gly451Cys
NM_001349864.2:c.1513G>T	NP_001336793.1:p.Gly505Cys
NM_001349865.2:c.1351G>T	NP_001336794.1:p.Gly451Cys
NM_001349866.2:c.1351G>T	NP_001336795.1:p.Gly451Cys
NM_001349867.2:c.979G>T	NP_001336796.1:p.Gly327Cys
NM_001349868.2:c.835G>T	NP_001336797.1:p.Gly279Cys
NM_001349869.2:c.817G>T	NP_001336798.1:p.Gly273Cys
NM_003560.4:c.1513G>T MANE Select	NP_003551.2:p.Gly505Cys
NM_001004426.3:c.1351G>T	NP_001004426.1:p.Gly451Cys