Canonical Allele Identifier: CA411527521

Gene: PLA2G6

Linked Data

• dbSNP Id: rs1060499764
• gnomAD v4: 22-38120861-T-G
• MyVariant Identifiers: chr22:g.38516868T>G (hg19) ; chr22:g.38120861T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.38120861T>G , CM000684.2:g.38120861T>G	GRCh38
NC_000022.10:g.38516868T>G , CM000684.1:g.38516868T>G	GRCh37
NC_000022.9:g.36846814T>G	NCBI36
NG_007094.2:g.89830A>C
NG_007094.3:g.98918A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000332509.8:c.1640A>C MANE Select	ENSP00000333142.3:p.Glu547Ala
ENST00000427114.6:c.944A>C	ENSP00000407743.2:p.Glu315Ala
ENST00000436218.6:c.*838A>C	ENSP00000401242.1:n.*838A>C
ENST00000655142.1:c.*498A>C	ENSP00000499715.1:n.*498A>C
ENST00000660610.1:c.1640A>C	ENSP00000499555.1:p.Glu547Ala
ENST00000663895.1:c.1640A>C	ENSP00000499712.1:p.Glu547Ala
ENST00000664587.1:c.1502A>C	ENSP00000499394.1:p.Glu501Ala
ENST00000665987.1:c.*1379A>C	ENSP00000499423.1:n.*1379A>C
ENST00000667521.1:c.1640A>C	ENSP00000499665.1:p.Glu547Ala
ENST00000668208.1:n.1608A>C
ENST00000668499.1:c.*1362A>C	ENSP00000499626.1:n.*1362A>C
ENST00000668949.1:c.1478A>C	ENSP00000499711.1:p.Glu493Ala
ENST00000671093.1:n.1572A>C
ENST00000673413.1:c.*1309A>C	ENSP00000500600.1:n.*1309A>C
ENST00000332509.7:c.1640A>C	ENSP00000333142.3:p.Glu547Ala
ENST00000335539.7:c.1478A>C	ENSP00000335149.3:p.Glu493Ala
ENST00000402064.5:c.1478A>C	ENSP00000386100.1:p.Glu493Ala
ENST00000448094.5:c.*245A>C	ENSP00000407106.1:n.*245A>C
ENST00000454670.1:c.285A>C
ENST00000491986.1:n.651A>C
ENST00000496409.1:n.180A>C
NM_001004426.1:c.1478A>C	NP_001004426.1:p.Glu493Ala
NM_001199562.1:c.1478A>C	NP_001186491.1:p.Glu493Ala
NM_003560.2:c.1640A>C	NP_003551.2:p.Glu547Ala
XM_005261764.1:c.1640A>C	XP_005261821.1:p.Glu547Ala
XM_005261765.1:c.1640A>C	XP_005261822.1:p.Glu547Ala
XM_005261766.1:c.1640A>C	XP_005261823.1:p.Glu547Ala
XM_006724332.2:c.1640A>C	XP_006724395.1:p.Glu547Ala
XM_011530422.1:c.1535A>C	XP_011528724.1:p.Glu512Ala
XM_011530423.1:c.1106A>C	XP_011528725.1:p.Glu369Ala
XM_011530424.1:c.1106A>C	XP_011528726.1:p.Glu369Ala
XM_011530425.1:c.1106A>C	XP_011528727.1:p.Glu369Ala
XM_011530426.1:c.1640A>C	XP_011528728.1:p.Glu547Ala
XR_244390.1:n.1748A>C
XR_244392.1:n.1801A>C
XR_430411.1:n.1800A>C
XR_430412.1:n.1853A>C
XR_937937.1:n.1748A>C
XR_937938.1:n.1834A>C
XR_937939.1:n.1800A>C
NM_001004426.2:c.1478A>C	NP_001004426.1:p.Glu493Ala
NM_001199562.2:c.1478A>C	NP_001186491.1:p.Glu493Ala
NM_001349864.1:c.1640A>C	NP_001336793.1:p.Glu547Ala
NM_001349865.1:c.1478A>C	NP_001336794.1:p.Glu493Ala
NM_001349866.1:c.1478A>C	NP_001336795.1:p.Glu493Ala
NM_001349867.1:c.1106A>C	NP_001336796.1:p.Glu369Ala
NM_001349868.1:c.962A>C	NP_001336797.1:p.Glu321Ala
NM_001349869.1:c.944A>C	NP_001336798.1:p.Glu315Ala
NM_003560.3:c.1640A>C	NP_003551.2:p.Glu547Ala
XM_005261764.3:c.1640A>C	XP_005261821.1:p.Glu547Ala
XM_005261765.2:c.1640A>C	XP_005261822.1:p.Glu547Ala
XM_006724332.4:c.1640A>C	XP_006724395.1:p.Glu547Ala
XM_011530426.3:c.1640A>C	XP_011528728.1:p.Glu547Ala
XM_017028983.1:c.944A>C	XP_016884472.1:p.Glu315Ala
XM_017028986.2:c.1478A>C	XP_016884475.1:p.Glu493Ala
XM_024452280.1:c.1106A>C	XP_024308048.1:p.Glu369Ala
XM_024452281.1:c.1106A>C	XP_024308049.1:p.Glu369Ala
XM_024452282.1:c.1106A>C	XP_024308050.1:p.Glu369Ala
XM_024452283.1:c.962A>C	XP_024308051.1:p.Glu321Ala
XM_024452284.1:c.944A>C	XP_024308052.1:p.Glu315Ala
XM_024452285.1:c.944A>C	XP_024308053.1:p.Glu315Ala
XR_001755325.2:n.1732A>C
XR_001755327.2:n.1818A>C
XR_001755328.2:n.1784A>C
XR_244390.3:n.1732A>C
XR_937938.3:n.1818A>C
XR_937939.3:n.1784A>C
NM_001199562.3:c.1478A>C	NP_001186491.1:p.Glu493Ala
NM_001349864.2:c.1640A>C	NP_001336793.1:p.Glu547Ala
NM_001349865.2:c.1478A>C	NP_001336794.1:p.Glu493Ala
NM_001349866.2:c.1478A>C	NP_001336795.1:p.Glu493Ala
NM_001349867.2:c.1106A>C	NP_001336796.1:p.Glu369Ala
NM_001349868.2:c.962A>C	NP_001336797.1:p.Glu321Ala
NM_001349869.2:c.944A>C	NP_001336798.1:p.Glu315Ala
NM_003560.4:c.1640A>C MANE Select	NP_003551.2:p.Glu547Ala
NM_001004426.3:c.1478A>C	NP_001004426.1:p.Glu493Ala