Canonical Allele Identifier: CA411524782
Community Standard Title: NM_003560.4(PLA2G6):c.1933C>T (p.Arg645Ter)
Gene: PLA2G6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.38115628G>A , CM000684.2:g.38115628G>A GRCh38
NC_000022.10:g.38511635G>A , CM000684.1:g.38511635G>A GRCh37
NC_000022.9:g.36841581G>A NCBI36
NG_007094.2:g.95063C>T
NG_033059.2:g.42C>T
NG_007094.3:g.104151C>T

Transcript Alleles

HGVS Amino-acid Change
NM_003560.4:c.1933C>T MANE Select NP_003551.2:p.Arg645Ter
ENST00000332509.8:c.1933C>T MANE Select ENSP00000333142.3:p.Arg645Ter
NM_001004426.1:c.1771C>T NP_001004426.1:p.Arg591Ter
NM_001004426.2:c.1771C>T NP_001004426.1:p.Arg591Ter
NM_001004426.3:c.1771C>T NP_001004426.1:p.Arg591Ter
NM_001199562.1:c.1771C>T NP_001186491.1:p.Arg591Ter
NM_001199562.2:c.1771C>T NP_001186491.1:p.Arg591Ter
NM_001199562.3:c.1771C>T NP_001186491.1:p.Arg591Ter
NM_001349864.1:c.1933C>T NP_001336793.1:p.Arg645Ter
NM_001349864.2:c.1933C>T NP_001336793.1:p.Arg645Ter
NM_001349865.1:c.1771C>T NP_001336794.1:p.Arg591Ter
NM_001349865.2:c.1771C>T NP_001336794.1:p.Arg591Ter
NM_001349866.1:c.1771C>T NP_001336795.1:p.Arg591Ter
NM_001349866.2:c.1771C>T NP_001336795.1:p.Arg591Ter
NM_001349867.1:c.1399C>T NP_001336796.1:p.Arg467Ter
NM_001349867.2:c.1399C>T NP_001336796.1:p.Arg467Ter
NM_001349868.1:c.1255C>T NP_001336797.1:p.Arg419Ter
NM_001349868.2:c.1255C>T NP_001336797.1:p.Arg419Ter
NM_001349869.1:c.1237C>T NP_001336798.1:p.Arg413Ter
NM_001349869.2:c.1237C>T NP_001336798.1:p.Arg413Ter
NM_003560.2:c.1933C>T NP_003551.2:p.Arg645Ter
NM_003560.3:c.1933C>T NP_003551.2:p.Arg645Ter
ENST00000332509.7:c.1933C>T ENSP00000333142.3:p.Arg645Ter
ENST00000335539.7:c.1771C>T ENSP00000335149.3:p.Arg591Ter
ENST00000402064.5:c.1771C>T ENSP00000386100.1:p.Arg591Ter
ENST00000427114.6:c.1237C>T ENSP00000407743.2:p.Arg413Ter
ENST00000436218.6:c.*1131C>T ENSP00000401242.1:n.*1131C>T
ENST00000454670.1:c.669C>T
ENST00000496409.1:n.641C>T
ENST00000655142.1:c.*791C>T ENSP00000499715.1:n.*791C>T
ENST00000660610.1:c.1933C>T ENSP00000499555.1:p.Arg645Ter
ENST00000663895.1:c.1933C>T ENSP00000499712.1:p.Arg645Ter
ENST00000664587.1:c.1795C>T ENSP00000499394.1:p.Arg599Ter
ENST00000665987.1:c.*1672C>T ENSP00000499423.1:n.*1672C>T
ENST00000667521.1:c.1933C>T ENSP00000499665.1:p.Arg645Ter
ENST00000668499.1:c.*1655C>T ENSP00000499626.1:n.*1655C>T
ENST00000668949.1:c.1771C>T ENSP00000499711.1:p.Arg591Ter
ENST00000671093.1:n.1865C>T
ENST00000673413.1:c.*1602C>T ENSP00000500600.1:n.*1602C>T
XM_005261764.1:c.1933C>T XP_005261821.1:p.Arg645Ter
XM_005261764.3:c.1933C>T XP_005261821.1:p.Arg645Ter
XM_005261765.1:c.1933C>T XP_005261822.1:p.Arg645Ter
XM_005261765.2:c.1933C>T XP_005261822.1:p.Arg645Ter
XM_005261766.1:c.1933C>T XP_005261823.1:p.Arg645Ter
XM_006724332.2:c.1933C>T XP_006724395.1:p.Arg645Ter
XM_006724332.4:c.1933C>T XP_006724395.1:p.Arg645Ter
XM_011530422.1:c.1828C>T XP_011528724.1:p.Arg610Ter
XM_011530423.1:c.1399C>T XP_011528725.1:p.Arg467Ter
XM_011530424.1:c.1399C>T XP_011528726.1:p.Arg467Ter
XM_011530425.1:c.1399C>T XP_011528727.1:p.Arg467Ter
XM_017028983.1:c.1237C>T XP_016884472.1:p.Arg413Ter
XM_024452280.1:c.1399C>T XP_024308048.1:p.Arg467Ter
XM_024452281.1:c.1399C>T XP_024308049.1:p.Arg467Ter
XM_024452282.1:c.1399C>T XP_024308050.1:p.Arg467Ter
XM_024452283.1:c.1255C>T XP_024308051.1:p.Arg419Ter
XM_024452284.1:c.1237C>T XP_024308052.1:p.Arg413Ter
XM_024452285.1:c.1237C>T XP_024308053.1:p.Arg413Ter
XR_001755325.2:n.2116C>T
XR_001755327.2:n.2111C>T
XR_001755328.2:n.2077C>T
XR_244390.1:n.2209C>T
XR_244390.3:n.2193C>T
XR_430411.1:n.2093C>T
XR_937937.1:n.2132C>T
XR_937938.1:n.2295C>T
XR_937938.3:n.2279C>T
XR_937939.1:n.2184C>T
XR_937939.3:n.2168C>T