Canonical Allele Identifier: CA411525741
Community Standard Title: NM_003560.4(PLA2G6):c.1772G>T (p.Arg591Leu)
Gene: PLA2G6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.38116182C>A , CM000684.2:g.38116182C>A GRCh38
NC_000022.10:g.38512189C>A , CM000684.1:g.38512189C>A GRCh37
NC_000022.9:g.36842135C>A NCBI36
NG_007094.2:g.94509G>T
NG_007094.3:g.103597G>T

Transcript Alleles

HGVS Amino-acid Change
NM_003560.4:c.1772G>T MANE Select NP_003551.2:p.Arg591Leu
ENST00000332509.8:c.1772G>T MANE Select ENSP00000333142.3:p.Arg591Leu
NM_001004426.1:c.1610G>T NP_001004426.1:p.Arg537Leu
NM_001004426.2:c.1610G>T NP_001004426.1:p.Arg537Leu
NM_001004426.3:c.1610G>T NP_001004426.1:p.Arg537Leu
NM_001199562.1:c.1610G>T NP_001186491.1:p.Arg537Leu
NM_001199562.2:c.1610G>T NP_001186491.1:p.Arg537Leu
NM_001199562.3:c.1610G>T NP_001186491.1:p.Arg537Leu
NM_001349864.1:c.1772G>T NP_001336793.1:p.Arg591Leu
NM_001349864.2:c.1772G>T NP_001336793.1:p.Arg591Leu
NM_001349865.1:c.1610G>T NP_001336794.1:p.Arg537Leu
NM_001349865.2:c.1610G>T NP_001336794.1:p.Arg537Leu
NM_001349866.1:c.1610G>T NP_001336795.1:p.Arg537Leu
NM_001349866.2:c.1610G>T NP_001336795.1:p.Arg537Leu
NM_001349867.1:c.1238G>T NP_001336796.1:p.Arg413Leu
NM_001349867.2:c.1238G>T NP_001336796.1:p.Arg413Leu
NM_001349868.1:c.1094G>T NP_001336797.1:p.Arg365Leu
NM_001349868.2:c.1094G>T NP_001336797.1:p.Arg365Leu
NM_001349869.1:c.1076G>T NP_001336798.1:p.Arg359Leu
NM_001349869.2:c.1076G>T NP_001336798.1:p.Arg359Leu
NM_003560.2:c.1772G>T NP_003551.2:p.Arg591Leu
NM_003560.3:c.1772G>T NP_003551.2:p.Arg591Leu
ENST00000332509.7:c.1772G>T ENSP00000333142.3:p.Arg591Leu
ENST00000335539.7:c.1610G>T ENSP00000335149.3:p.Arg537Leu
ENST00000402064.5:c.1610G>T ENSP00000386100.1:p.Arg537Leu
ENST00000427114.6:c.1076G>T ENSP00000407743.2:p.Arg359Leu
ENST00000436218.6:c.*970G>T ENSP00000401242.1:n.*970G>T
ENST00000448094.5:c.*377G>T ENSP00000407106.1:n.*377G>T
ENST00000454670.1:c.508G>T
ENST00000496409.1:n.312G>T
ENST00000655142.1:c.*630G>T ENSP00000499715.1:n.*630G>T
ENST00000660610.1:c.1772G>T ENSP00000499555.1:p.Arg591Leu
ENST00000663895.1:c.1772G>T ENSP00000499712.1:p.Arg591Leu
ENST00000664587.1:c.1634G>T ENSP00000499394.1:p.Arg545Leu
ENST00000665987.1:c.*1511G>T ENSP00000499423.1:n.*1511G>T
ENST00000667521.1:c.1772G>T ENSP00000499665.1:p.Arg591Leu
ENST00000668499.1:c.*1494G>T ENSP00000499626.1:n.*1494G>T
ENST00000668949.1:c.1610G>T ENSP00000499711.1:p.Arg537Leu
ENST00000671093.1:n.1704G>T
ENST00000673413.1:c.*1441G>T ENSP00000500600.1:n.*1441G>T
XM_005261764.1:c.1772G>T XP_005261821.1:p.Arg591Leu
XM_005261764.3:c.1772G>T XP_005261821.1:p.Arg591Leu
XM_005261765.1:c.1772G>T XP_005261822.1:p.Arg591Leu
XM_005261765.2:c.1772G>T XP_005261822.1:p.Arg591Leu
XM_005261766.1:c.1772G>T XP_005261823.1:p.Arg591Leu
XM_006724332.2:c.1772G>T XP_006724395.1:p.Arg591Leu
XM_006724332.4:c.1772G>T XP_006724395.1:p.Arg591Leu
XM_011530422.1:c.1667G>T XP_011528724.1:p.Arg556Leu
XM_011530423.1:c.1238G>T XP_011528725.1:p.Arg413Leu
XM_011530424.1:c.1238G>T XP_011528726.1:p.Arg413Leu
XM_011530425.1:c.1238G>T XP_011528727.1:p.Arg413Leu
XM_017028983.1:c.1076G>T XP_016884472.1:p.Arg359Leu
XM_024452280.1:c.1238G>T XP_024308048.1:p.Arg413Leu
XM_024452281.1:c.1238G>T XP_024308049.1:p.Arg413Leu
XM_024452282.1:c.1238G>T XP_024308050.1:p.Arg413Leu
XM_024452283.1:c.1094G>T XP_024308051.1:p.Arg365Leu
XM_024452284.1:c.1076G>T XP_024308052.1:p.Arg359Leu
XM_024452285.1:c.1076G>T XP_024308053.1:p.Arg359Leu
XR_001755325.2:n.1955G>T
XR_001755327.2:n.1950G>T
XR_001755328.2:n.1916G>T
XR_244390.1:n.1880G>T
XR_244390.3:n.1864G>T
XR_430411.1:n.1932G>T
XR_937937.1:n.1971G>T
XR_937938.1:n.1966G>T
XR_937938.3:n.1950G>T
XR_937939.1:n.2023G>T
XR_937939.3:n.2007G>T