Canonical Allele Identifier: CA411524592
Gene: PLA2G6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.38115537A>T , CM000684.2:g.38115537A>T GRCh38
NC_000022.10:g.38511544A>T , CM000684.1:g.38511544A>T GRCh37
NC_000022.9:g.36841490A>T NCBI36
NG_007094.2:g.95154T>A
NG_033059.2:g.133T>A
NG_007094.3:g.104242T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000332509.8:c.2024T>A MANE Select ENSP00000333142.3:p.Leu675Gln
ENST00000436218.6:c.*1222T>A ENSP00000401242.1:n.*1222T>A
ENST00000655142.1:c.*882T>A ENSP00000499715.1:n.*882T>A
ENST00000660610.1:c.2024T>A ENSP00000499555.1:p.Leu675Gln
ENST00000663895.1:c.2024T>A ENSP00000499712.1:p.Leu675Gln
ENST00000664587.1:c.1886T>A ENSP00000499394.1:p.Leu629Gln
ENST00000665987.1:c.*1763T>A ENSP00000499423.1:n.*1763T>A
ENST00000667521.1:c.2024T>A ENSP00000499665.1:p.Leu675Gln
ENST00000668499.1:c.*1746T>A ENSP00000499626.1:n.*1746T>A
ENST00000668949.1:c.1862T>A ENSP00000499711.1:p.Leu621Gln
ENST00000671093.1:n.1956T>A
ENST00000673413.1:c.*1693T>A ENSP00000500600.1:n.*1693T>A
ENST00000332509.7:c.2024T>A ENSP00000333142.3:p.Leu675Gln
ENST00000335539.7:c.1862T>A ENSP00000335149.3:p.Leu621Gln
ENST00000402064.5:c.1862T>A ENSP00000386100.1:p.Leu621Gln
ENST00000496409.1:n.732T>A
NM_001004426.1:c.1862T>A NP_001004426.1:p.Leu621Gln
NM_001199562.1:c.1862T>A NP_001186491.1:p.Leu621Gln
NM_003560.2:c.2024T>A NP_003551.2:p.Leu675Gln
XM_005261764.1:c.2024T>A XP_005261821.1:p.Leu675Gln
XM_005261765.1:c.2024T>A XP_005261822.1:p.Leu675Gln
XM_005261766.1:c.2024T>A XP_005261823.1:p.Leu675Gln
XM_006724332.2:c.2024T>A XP_006724395.1:p.Leu675Gln
XM_011530422.1:c.1919T>A XP_011528724.1:p.Leu640Gln
XM_011530423.1:c.1490T>A XP_011528725.1:p.Leu497Gln
XM_011530424.1:c.1490T>A XP_011528726.1:p.Leu497Gln
XM_011530425.1:c.1490T>A XP_011528727.1:p.Leu497Gln
XR_244390.1:n.2300T>A
XR_430411.1:n.2184T>A
XR_937938.1:n.2386T>A
NM_001004426.2:c.1862T>A NP_001004426.1:p.Leu621Gln
NM_001199562.2:c.1862T>A NP_001186491.1:p.Leu621Gln
NM_001349864.1:c.2024T>A NP_001336793.1:p.Leu675Gln
NM_001349865.1:c.1862T>A NP_001336794.1:p.Leu621Gln
NM_001349866.1:c.1862T>A NP_001336795.1:p.Leu621Gln
NM_001349867.1:c.1490T>A NP_001336796.1:p.Leu497Gln
NM_001349868.1:c.1346T>A NP_001336797.1:p.Leu449Gln
NM_001349869.1:c.1328T>A NP_001336798.1:p.Leu443Gln
NM_003560.3:c.2024T>A NP_003551.2:p.Leu675Gln
XM_005261764.3:c.2024T>A XP_005261821.1:p.Leu675Gln
XM_005261765.2:c.2024T>A XP_005261822.1:p.Leu675Gln
XM_006724332.4:c.2024T>A XP_006724395.1:p.Leu675Gln
XM_017028983.1:c.1328T>A XP_016884472.1:p.Leu443Gln
XM_024452280.1:c.1490T>A XP_024308048.1:p.Leu497Gln
XM_024452281.1:c.1490T>A XP_024308049.1:p.Leu497Gln
XM_024452282.1:c.1490T>A XP_024308050.1:p.Leu497Gln
XM_024452283.1:c.1346T>A XP_024308051.1:p.Leu449Gln
XM_024452284.1:c.1328T>A XP_024308052.1:p.Leu443Gln
XM_024452285.1:c.1328T>A XP_024308053.1:p.Leu443Gln
XR_001755325.2:n.2207T>A
XR_001755327.2:n.2202T>A
XR_001755328.2:n.2168T>A
XR_244390.3:n.2284T>A
XR_937938.3:n.2370T>A
NM_001199562.3:c.1862T>A NP_001186491.1:p.Leu621Gln
NM_001349864.2:c.2024T>A NP_001336793.1:p.Leu675Gln
NM_001349865.2:c.1862T>A NP_001336794.1:p.Leu621Gln
NM_001349866.2:c.1862T>A NP_001336795.1:p.Leu621Gln
NM_001349867.2:c.1490T>A NP_001336796.1:p.Leu497Gln
NM_001349868.2:c.1346T>A NP_001336797.1:p.Leu449Gln
NM_001349869.2:c.1328T>A NP_001336798.1:p.Leu443Gln
NM_003560.4:c.2024T>A MANE Select NP_003551.2:p.Leu675Gln
NM_001004426.3:c.1862T>A NP_001004426.1:p.Leu621Gln