Canonical Allele Identifier: CA411531971

Gene: PLA2G6

Linked Data

• ClinVar Variation Id: 1176776
• ClinVar RCV Id: RCV001532472
• dbSNP Id: rs2145819254
• MyVariant Identifiers: chr22:g.38539257G>A (hg19) ; chr22:g.38143250G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.38143250G>A , CM000684.2:g.38143250G>A	GRCh38
NC_000022.10:g.38539257G>A , CM000684.1:g.38539257G>A	GRCh37
NC_000022.9:g.36869203G>A	NCBI36
NG_007094.2:g.67441C>T
NG_007094.3:g.76529C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000332509.8:c.464C>T MANE Select	ENSP00000333142.3:p.Pro155Leu
ENST00000427114.6:c.-71C>T	ENSP00000407743.2:n.-71C>T
ENST00000436218.6:c.425+2188C>T	ENSP00000401242.1:n.425+2188C>T
ENST00000655142.1:c.464C>T	ENSP00000499715.1:p.Pro155Leu
ENST00000660610.1:c.464C>T	ENSP00000499555.1:p.Pro155Leu
ENST00000663895.1:c.464C>T	ENSP00000499712.1:p.Pro155Leu
ENST00000664587.1:c.464C>T	ENSP00000499394.1:p.Pro155Leu
ENST00000665987.1:c.*365C>T	ENSP00000499423.1:n.*365C>T
ENST00000667521.1:c.464C>T	ENSP00000499665.1:p.Pro155Leu
ENST00000668208.1:n.594C>T
ENST00000668499.1:c.*295C>T	ENSP00000499626.1:n.*295C>T
ENST00000668949.1:c.464C>T	ENSP00000499711.1:p.Pro155Leu
ENST00000671093.1:n.558C>T
ENST00000673413.1:c.*295C>T	ENSP00000500600.1:n.*295C>T
ENST00000332509.7:c.464C>T	ENSP00000333142.3:p.Pro155Leu
ENST00000335539.7:c.464C>T	ENSP00000335149.3:p.Pro155Leu
ENST00000402064.5:c.464C>T	ENSP00000386100.1:p.Pro155Leu
ENST00000427114.5:c.66C>T
ENST00000430886.5:c.248C>T	ENSP00000395464.1:p.Pro83Leu
ENST00000436218.5:c.425+2188C>T	ENSP00000401242.1:n.425+2188C>T
ENST00000445591.5:n.513C>T
ENST00000452972.1:n.511C>T
ENST00000471636.5:n.376+2313C>T
ENST00000479641.5:n.390C>T
ENST00000498338.1:c.-71C>T	ENSP00000472058.1:n.-71C>T
NM_001004426.1:c.464C>T	NP_001004426.1:p.Pro155Leu
NM_001199562.1:c.464C>T	NP_001186491.1:p.Pro155Leu
NM_003560.2:c.464C>T	NP_003551.2:p.Pro155Leu
XM_005261764.1:c.464C>T	XP_005261821.1:p.Pro155Leu
XM_005261765.1:c.464C>T	XP_005261822.1:p.Pro155Leu
XM_005261766.1:c.464C>T	XP_005261823.1:p.Pro155Leu
XM_005261771.3:c.464C>T	XP_005261828.1:p.Pro155Leu
XM_006724332.2:c.464C>T	XP_006724395.1:p.Pro155Leu
XM_011530422.1:c.547C>T	XP_011528724.1:p.Pro183Ser
XM_011530423.1:c.-71C>T	XP_011528725.1:n.-71C>T
XM_011530424.1:c.-71C>T	XP_011528726.1:n.-71C>T
XM_011530425.1:c.-71C>T	XP_011528727.1:n.-71C>T
XM_011530426.1:c.464C>T	XP_011528728.1:p.Pro155Leu
XM_011530427.1:c.547C>T	XP_011528729.1:p.Pro183Ser
XM_011530428.1:c.464C>T	XP_011528730.1:p.Pro155Leu
XR_244390.1:n.572C>T
XR_244392.1:n.572C>T
XR_430411.1:n.572C>T
XR_430412.1:n.572C>T
XR_937937.1:n.572C>T
XR_937938.1:n.572C>T
XR_937939.1:n.572C>T
XR_937940.1:n.572C>T
NM_001004426.2:c.464C>T	NP_001004426.1:p.Pro155Leu
NM_001199562.2:c.464C>T	NP_001186491.1:p.Pro155Leu
NM_001349864.1:c.464C>T	NP_001336793.1:p.Pro155Leu
NM_001349865.1:c.464C>T	NP_001336794.1:p.Pro155Leu
NM_001349866.1:c.464C>T	NP_001336795.1:p.Pro155Leu
NM_001349867.1:c.-71C>T	NP_001336796.1:n.-71C>T
NM_001349868.1:c.-27C>T	NP_001336797.1:n.-27C>T
NM_001349869.1:c.-71C>T	NP_001336798.1:n.-71C>T
NM_003560.3:c.464C>T	NP_003551.2:p.Pro155Leu
XM_005261764.3:c.464C>T	XP_005261821.1:p.Pro155Leu
XM_005261765.2:c.464C>T	XP_005261822.1:p.Pro155Leu
XM_006724332.4:c.464C>T	XP_006724395.1:p.Pro155Leu
XM_011530426.3:c.464C>T	XP_011528728.1:p.Pro155Leu
XM_017028983.1:c.-71C>T	XP_016884472.1:n.-71C>T
XM_017028986.2:c.464C>T	XP_016884475.1:p.Pro155Leu
XM_017028987.2:c.464C>T	XP_016884476.1:p.Pro155Leu
XM_017028988.2:c.464C>T	XP_016884477.1:p.Pro155Leu
XM_024452280.1:c.-71C>T	XP_024308048.1:n.-71C>T
XM_024452281.1:c.-71C>T	XP_024308049.1:n.-71C>T
XM_024452282.1:c.-71C>T	XP_024308050.1:n.-71C>T
XM_024452283.1:c.-27C>T	XP_024308051.1:n.-27C>T
XM_024452284.1:c.-71C>T	XP_024308052.1:n.-71C>T
XM_024452285.1:c.-71C>T	XP_024308053.1:n.-71C>T
XR_001755325.2:n.556C>T
XR_001755327.2:n.556C>T
XR_001755328.2:n.556C>T
XR_244390.3:n.556C>T
XR_937938.3:n.556C>T
XR_937939.3:n.556C>T
XR_937940.3:n.556C>T
NM_001199562.3:c.464C>T	NP_001186491.1:p.Pro155Leu
NM_001349864.2:c.464C>T	NP_001336793.1:p.Pro155Leu
NM_001349865.2:c.464C>T	NP_001336794.1:p.Pro155Leu
NM_001349866.2:c.464C>T	NP_001336795.1:p.Pro155Leu
NM_001349867.2:c.-71C>T	NP_001336796.1:n.-71C>T
NM_001349868.2:c.-27C>T	NP_001336797.1:n.-27C>T
NM_001349869.2:c.-71C>T	NP_001336798.1:n.-71C>T
NM_003560.4:c.464C>T MANE Select	NP_003551.2:p.Pro155Leu
NM_001004426.3:c.464C>T	NP_001004426.1:p.Pro155Leu