Canonical Allele Identifier: CA411525693

Gene: PLA2G6

Linked Data

• MyVariant Identifiers: chr22:g.38512166A>T (hg19) ; chr22:g.38116159A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.38116159A>T , CM000684.2:g.38116159A>T	GRCh38
NC_000022.10:g.38512166A>T , CM000684.1:g.38512166A>T	GRCh37
NC_000022.9:g.36842112A>T	NCBI36
NG_007094.2:g.94532T>A
NG_007094.3:g.103620T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332509.8:c.1795T>A MANE Select	ENSP00000333142.3:p.Phe599Ile
ENST00000427114.6:c.1099T>A	ENSP00000407743.2:p.Phe367Ile
ENST00000436218.6:c.*993T>A	ENSP00000401242.1:n.*993T>A
ENST00000655142.1:c.*653T>A	ENSP00000499715.1:n.*653T>A
ENST00000660610.1:c.1795T>A	ENSP00000499555.1:p.Phe599Ile
ENST00000663895.1:c.1795T>A	ENSP00000499712.1:p.Phe599Ile
ENST00000664587.1:c.1657T>A	ENSP00000499394.1:p.Phe553Ile
ENST00000665987.1:c.*1534T>A	ENSP00000499423.1:n.*1534T>A
ENST00000667521.1:c.1795T>A	ENSP00000499665.1:p.Phe599Ile
ENST00000668499.1:c.*1517T>A	ENSP00000499626.1:n.*1517T>A
ENST00000668949.1:c.1633T>A	ENSP00000499711.1:p.Phe545Ile
ENST00000671093.1:n.1727T>A
ENST00000673413.1:c.*1464T>A	ENSP00000500600.1:n.*1464T>A
ENST00000332509.7:c.1795T>A	ENSP00000333142.3:p.Phe599Ile
ENST00000335539.7:c.1633T>A	ENSP00000335149.3:p.Phe545Ile
ENST00000402064.5:c.1633T>A	ENSP00000386100.1:p.Phe545Ile
ENST00000448094.5:c.*400T>A	ENSP00000407106.1:n.*400T>A
ENST00000454670.1:c.531T>A
ENST00000496409.1:n.335T>A
NM_001004426.1:c.1633T>A	NP_001004426.1:p.Phe545Ile
NM_001199562.1:c.1633T>A	NP_001186491.1:p.Phe545Ile
NM_003560.2:c.1795T>A	NP_003551.2:p.Phe599Ile
XM_005261764.1:c.1795T>A	XP_005261821.1:p.Phe599Ile
XM_005261765.1:c.1795T>A	XP_005261822.1:p.Phe599Ile
XM_005261766.1:c.1795T>A	XP_005261823.1:p.Phe599Ile
XM_006724332.2:c.1795T>A	XP_006724395.1:p.Phe599Ile
XM_011530422.1:c.1690T>A	XP_011528724.1:p.Phe564Ile
XM_011530423.1:c.1261T>A	XP_011528725.1:p.Phe421Ile
XM_011530424.1:c.1261T>A	XP_011528726.1:p.Phe421Ile
XM_011530425.1:c.1261T>A	XP_011528727.1:p.Phe421Ile
XR_244390.1:n.1903T>A
XR_430411.1:n.1955T>A
XR_937937.1:n.1994T>A
XR_937938.1:n.1989T>A
XR_937939.1:n.2046T>A
NM_001004426.2:c.1633T>A	NP_001004426.1:p.Phe545Ile
NM_001199562.2:c.1633T>A	NP_001186491.1:p.Phe545Ile
NM_001349864.1:c.1795T>A	NP_001336793.1:p.Phe599Ile
NM_001349865.1:c.1633T>A	NP_001336794.1:p.Phe545Ile
NM_001349866.1:c.1633T>A	NP_001336795.1:p.Phe545Ile
NM_001349867.1:c.1261T>A	NP_001336796.1:p.Phe421Ile
NM_001349868.1:c.1117T>A	NP_001336797.1:p.Phe373Ile
NM_001349869.1:c.1099T>A	NP_001336798.1:p.Phe367Ile
NM_003560.3:c.1795T>A	NP_003551.2:p.Phe599Ile
XM_005261764.3:c.1795T>A	XP_005261821.1:p.Phe599Ile
XM_005261765.2:c.1795T>A	XP_005261822.1:p.Phe599Ile
XM_006724332.4:c.1795T>A	XP_006724395.1:p.Phe599Ile
XM_017028983.1:c.1099T>A	XP_016884472.1:p.Phe367Ile
XM_024452280.1:c.1261T>A	XP_024308048.1:p.Phe421Ile
XM_024452281.1:c.1261T>A	XP_024308049.1:p.Phe421Ile
XM_024452282.1:c.1261T>A	XP_024308050.1:p.Phe421Ile
XM_024452283.1:c.1117T>A	XP_024308051.1:p.Phe373Ile
XM_024452284.1:c.1099T>A	XP_024308052.1:p.Phe367Ile
XM_024452285.1:c.1099T>A	XP_024308053.1:p.Phe367Ile
XR_001755325.2:n.1978T>A
XR_001755327.2:n.1973T>A
XR_001755328.2:n.1939T>A
XR_244390.3:n.1887T>A
XR_937938.3:n.1973T>A
XR_937939.3:n.2030T>A
NM_001199562.3:c.1633T>A	NP_001186491.1:p.Phe545Ile
NM_001349864.2:c.1795T>A	NP_001336793.1:p.Phe599Ile
NM_001349865.2:c.1633T>A	NP_001336794.1:p.Phe545Ile
NM_001349866.2:c.1633T>A	NP_001336795.1:p.Phe545Ile
NM_001349867.2:c.1261T>A	NP_001336796.1:p.Phe421Ile
NM_001349868.2:c.1117T>A	NP_001336797.1:p.Phe373Ile
NM_001349869.2:c.1099T>A	NP_001336798.1:p.Phe367Ile
NM_003560.4:c.1795T>A MANE Select	NP_003551.2:p.Phe599Ile
NM_001004426.3:c.1633T>A	NP_001004426.1:p.Phe545Ile