Canonical Allele Identifier: CA10230960

Gene: PLA2G6

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.38128349G>A , CM000684.2:g.38128349G>A	GRCh38
NC_000022.10:g.38524356G>A , CM000684.1:g.38524356G>A	GRCh37
NC_000022.9:g.36854302G>A	NCBI36
NG_007094.2:g.82342C>T
NG_007094.3:g.91430C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003560.4:c.1268C>T MANE Select	NP_003551.2:p.Ala423Val
ENST00000332509.8:c.1268C>T MANE Select	ENSP00000333142.3:p.Ala423Val
NM_001004426.1:c.1186+1105C>T	NP_001004426.1:n.1186+1105C>T
NM_001004426.2:c.1186+1105C>T	NP_001004426.1:n.1186+1105C>T
NM_001004426.3:c.1186+1105C>T	NP_001004426.1:n.1186+1105C>T
NM_001199562.1:c.1186+1105C>T	NP_001186491.1:n.1186+1105C>T
NM_001199562.2:c.1186+1105C>T	NP_001186491.1:n.1186+1105C>T
NM_001199562.3:c.1186+1105C>T	NP_001186491.1:n.1186+1105C>T
NM_001349864.1:c.1268C>T	NP_001336793.1:p.Ala423Val
NM_001349864.2:c.1268C>T	NP_001336793.1:p.Ala423Val
NM_001349865.1:c.1186+1105C>T	NP_001336794.1:n.1186+1105C>T
NM_001349865.2:c.1186+1105C>T	NP_001336794.1:n.1186+1105C>T
NM_001349866.1:c.1186+1105C>T	NP_001336795.1:n.1186+1105C>T
NM_001349866.2:c.1186+1105C>T	NP_001336795.1:n.1186+1105C>T
NM_001349867.1:c.734C>T	NP_001336796.1:p.Ala245Val
NM_001349867.2:c.734C>T	NP_001336796.1:p.Ala245Val
NM_001349868.1:c.590C>T	NP_001336797.1:p.Ala197Val
NM_001349868.2:c.590C>T	NP_001336797.1:p.Ala197Val
NM_001349869.1:c.652+1105C>T	NP_001336798.1:n.652+1105C>T
NM_001349869.2:c.652+1105C>T	NP_001336798.1:n.652+1105C>T
NM_003560.2:c.1268C>T	NP_003551.2:p.Ala423Val
NM_003560.3:c.1268C>T	NP_003551.2:p.Ala423Val
ENST00000332509.7:c.1268C>T	ENSP00000333142.3:p.Ala423Val
ENST00000335539.7:c.1186+1105C>T	ENSP00000335149.3:n.1186+1105C>T
ENST00000402064.5:c.1186+1105C>T	ENSP00000386100.1:n.1186+1105C>T
ENST00000427114.5:c.682C>T
ENST00000427114.6:c.652+1105C>T	ENSP00000407743.2:n.652+1105C>T
ENST00000436218.6:c.*546+1105C>T	ENSP00000401242.1:n.*546+1105C>T
ENST00000448094.5:c.449C>T	ENSP00000407106.1:p.Ala150Val
ENST00000452794.5:c.238C>T
ENST00000471636.5:n.413-1822C>T
ENST00000480154.1:n.135C>T
ENST00000655142.1:c.*126C>T	ENSP00000499715.1:n.*126C>T
ENST00000660610.1:c.1268C>T	ENSP00000499555.1:p.Ala423Val
ENST00000663895.1:c.1268C>T	ENSP00000499712.1:p.Ala423Val
ENST00000664587.1:c.1186+1105C>T	ENSP00000499394.1:n.1186+1105C>T
ENST00000665987.1:c.*1087+1105C>T	ENSP00000499423.1:n.*1087+1105C>T
ENST00000667521.1:c.1268C>T	ENSP00000499665.1:p.Ala423Val
ENST00000668208.1:n.1316+1105C>T
ENST00000668499.1:c.*1017+1105C>T	ENSP00000499626.1:n.*1017+1105C>T
ENST00000668949.1:c.1186+1105C>T	ENSP00000499711.1:n.1186+1105C>T
ENST00000671093.1:n.1280+1105C>T
ENST00000673413.1:c.*1017+1105C>T	ENSP00000500600.1:n.*1017+1105C>T
XM_005261764.1:c.1268C>T	XP_005261821.1:p.Ala423Val
XM_005261764.3:c.1268C>T	XP_005261821.1:p.Ala423Val
XM_005261765.1:c.1268C>T	XP_005261822.1:p.Ala423Val
XM_005261765.2:c.1268C>T	XP_005261822.1:p.Ala423Val
XM_005261766.1:c.1268C>T	XP_005261823.1:p.Ala423Val
XM_005261771.3:c.1268C>T	XP_005261828.1:p.Ala423Val
XM_006724332.2:c.1268C>T	XP_006724395.1:p.Ala423Val
XM_006724332.4:c.1268C>T	XP_006724395.1:p.Ala423Val
XM_011530422.1:c.1163C>T	XP_011528724.1:p.Ala388Val
XM_011530423.1:c.734C>T	XP_011528725.1:p.Ala245Val
XM_011530424.1:c.734C>T	XP_011528726.1:p.Ala245Val
XM_011530425.1:c.734C>T	XP_011528727.1:p.Ala245Val
XM_011530426.1:c.1268C>T	XP_011528728.1:p.Ala423Val
XM_011530426.3:c.1268C>T	XP_011528728.1:p.Ala423Val
XM_011530427.1:c.1163C>T	XP_011528729.1:p.Ala388Val
XM_017028983.1:c.652+1105C>T	XP_016884472.1:n.652+1105C>T
XM_017028986.2:c.1186+1105C>T	XP_016884475.1:n.1186+1105C>T
XM_017028987.2:c.1268C>T	XP_016884476.1:p.Ala423Val
XM_017028988.2:c.1268C>T	XP_016884477.1:p.Ala423Val
XM_024452280.1:c.734C>T	XP_024308048.1:p.Ala245Val
XM_024452281.1:c.734C>T	XP_024308049.1:p.Ala245Val
XM_024452282.1:c.734C>T	XP_024308050.1:p.Ala245Val
XM_024452283.1:c.590C>T	XP_024308051.1:p.Ala197Val
XM_024452284.1:c.652+1105C>T	XP_024308052.1:n.652+1105C>T
XM_024452285.1:c.652+1105C>T	XP_024308053.1:n.652+1105C>T
XR_001755325.2:n.1360C>T
XR_001755327.2:n.1360C>T
XR_001755328.2:n.1360C>T
XR_244390.1:n.1376C>T
XR_244390.3:n.1360C>T
XR_244392.1:n.1376C>T
XR_430411.1:n.1376C>T
XR_430412.1:n.1376C>T
XR_937937.1:n.1376C>T
XR_937938.1:n.1376C>T
XR_937938.3:n.1360C>T
XR_937939.1:n.1376C>T
XR_937939.3:n.1360C>T
XR_937940.1:n.1376C>T
XR_937940.3:n.1360C>T