Canonical Allele Identifier: CA1148439840
Gene: POMGNT1 HGNC NCBI
TSPAN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.46190477G= , CM000663.2:g.46190477G= GRCh38
NC_000001.10:g.46656149G= , CM000663.1:g.46656149G= GRCh37
NC_000001.9:g.46428736G= NCBI36
NG_009205.2:g.34829C=
NG_009205.3:g.34829C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000396420.8:c.1645C= (POMGNT1) ENSP00000379698.4:p.Leu549=
ENST00000477114.2:n.2207C= (POMGNT1)
ENST00000497439.6:n.1817C= (POMGNT1)
ENST00000684817.1:n.2005C= (POMGNT1)
ENST00000684898.1:n.2207C= (POMGNT1)
ENST00000685230.1:c.*955C= (POMGNT1) ENSP00000510305.1:n.*955C=
ENST00000685275.1:n.2192C= (POMGNT1)
ENST00000685444.1:c.1546C= (POMGNT1) ENSP00000510762.1:p.Leu516=
ENST00000685704.1:n.2311C= (POMGNT1)
ENST00000685775.1:n.4687C= (POMGNT1)
ENST00000685833.1:n.4038C= (POMGNT1)
ENST00000686252.1:n.2719C= (POMGNT1)
ENST00000686379.1:c.*769C= (POMGNT1) ENSP00000508913.1:n.*769C=
ENST00000686724.1:n.3332C= (POMGNT1)
ENST00000686737.1:c.1645C= (POMGNT1) ENSP00000508736.1:p.Leu549=
ENST00000687112.1:n.2511C= (POMGNT1)
ENST00000687149.1:c.1684C= (POMGNT1) ENSP00000509745.1:p.Leu562=
ENST00000687197.1:c.*585C= (POMGNT1) ENSP00000510749.1:n.*585C=
ENST00000687235.1:n.3722C= (POMGNT1)
ENST00000687613.1:n.2290-488C= (POMGNT1)
ENST00000687683.1:c.1645C= (POMGNT1) ENSP00000508522.1:p.Leu549=
ENST00000688032.1:n.2182C= (POMGNT1)
ENST00000688596.1:n.2296C= (POMGNT1)
ENST00000688608.1:c.1546C= (POMGNT1) ENSP00000508890.1:p.Leu516=
ENST00000688919.1:n.3043C= (POMGNT1)
ENST00000689031.1:n.2102-488C= (POMGNT1)
ENST00000689717.1:n.2019C= (POMGNT1)
ENST00000689756.1:c.*1277C= (POMGNT1) ENSP00000509023.1:n.*1277C=
ENST00000690377.1:n.1992C= (POMGNT1)
ENST00000690678.1:c.1645C= (POMGNT1) ENSP00000508703.1:p.Leu549=
ENST00000691209.1:c.*585C= (POMGNT1) ENSP00000510112.1:n.*585C=
ENST00000691243.1:c.*36C= (POMGNT1) ENSP00000510654.1:n.*36C=
ENST00000692169.1:n.3309C= (POMGNT1)
ENST00000692202.1:n.2220C= (POMGNT1)
ENST00000692322.1:c.*1432C= (POMGNT1) ENSP00000509017.1:n.*1432C=
ENST00000692369.1:c.1645C= (POMGNT1) ENSP00000508453.1:p.Leu549=
ENST00000692599.1:n.3520C= (POMGNT1)
ENST00000692635.1:c.*520C= (POMGNT1) ENSP00000508425.1:n.*520C=
ENST00000693168.1:n.3421C= (POMGNT1)
ENST00000693218.1:c.*206C= (POMGNT1) ENSP00000510577.1:n.*206C=
ENST00000693223.1:n.2593C= (POMGNT1)
ENST00000693365.1:n.5794C= (POMGNT1)
ENST00000371984.8:c.1645C= (POMGNT1) MANE Select ENSP00000361052.3:p.Leu549=
ENST00000371984.7:c.1645C= (POMGNT1) ENSP00000361052.3:p.Leu549=
ENST00000371992.1:c.1645C= (POMGNT1) ENSP00000361060.1:p.Leu549=
ENST00000396420.7:c.*1314C= (POMGNT1) ENSP00000379698.3:n.*1314C=
ENST00000480972.1:n.294C= (POMGNT1)
ENST00000485714.1:n.2546C= (POMGNT1)
NM_001243766.1:c.1645C= (POMGNT1) NP_001230695.1:p.Leu549=
NM_001290129.1:c.1579C= (POMGNT1) NP_001277058.1:p.Leu527=
NM_001290130.1:c.1216C= (POMGNT1) NP_001277059.1:p.Leu406=
NM_017739.3:c.1645C= (POMGNT1) NP_060209.3:p.Leu549=
XM_005271010.1:c.1645C= (POMGNT1) XP_005271067.1:p.Leu549=
XM_006710755.1:c.1645C= (POMGNT1) XP_006710818.1:p.Leu549=
XM_006710756.1:c.1645C= (POMGNT1) XP_006710819.1:p.Leu549=
XM_011540460.1:c.678+5169G= (TSPAN1) XP_011538762.1:n.678+5169G=
XM_011540461.1:c.633+5169G= (TSPAN1) XP_011538763.1:n.633+5169G=
XM_011541759.1:c.1579C= (POMGNT1) XP_011540061.1:p.Leu527=
XM_011541760.1:c.1579C= (POMGNT1) XP_011540062.1:p.Leu527=
XM_011541761.1:c.553C= (POMGNT1) XP_011540063.1:p.Leu185=
XM_011540460.3:c.678+5169G= (TSPAN1) XP_011538762.1:n.678+5169G=
XM_011541760.3:c.1579C= (POMGNT1) XP_011540062.1:p.Leu527=
XM_017001690.1:c.1645C= (POMGNT1) XP_016857179.1:p.Leu549=
NM_001243766.2:c.1645C= (POMGNT1) NP_001230695.2:p.Leu549=
NM_001290129.2:c.1579C= (POMGNT1) NP_001277058.2:p.Leu527=
NM_001290130.2:c.1216C= (POMGNT1) NP_001277059.2:p.Leu406=
NM_017739.4:c.1645C= (POMGNT1) MANE Select NP_060209.4:p.Leu549=