Canonical Allele Identifier: CA2474081180
Gene: POMGNT1 HGNC NCBI
TSPAN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.46189980C= , CM000663.2:g.46189980C= GRCh38
NC_000001.10:g.46655652C= , CM000663.1:g.46655652C= GRCh37
NC_000001.9:g.46428239C= NCBI36
NG_009205.2:g.35326G=
NG_009205.3:g.35326G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000396420.8:c.1659G= (POMGNT1) ENSP00000379698.4:p.Glu553=
ENST00000497439.6:n.1831G= (POMGNT1)
ENST00000684817.1:n.2019G= (POMGNT1)
ENST00000684898.1:n.2221G= (POMGNT1)
ENST00000685230.1:c.*969G= (POMGNT1) ENSP00000510305.1:n.*969G=
ENST00000685275.1:n.2206G= (POMGNT1)
ENST00000685444.1:c.1560G= (POMGNT1) ENSP00000510762.1:p.Glu520=
ENST00000685704.1:n.2325G= (POMGNT1)
ENST00000685833.1:n.4052G= (POMGNT1)
ENST00000686252.1:n.2733G= (POMGNT1)
ENST00000686379.1:c.*783G= (POMGNT1) ENSP00000508913.1:n.*783G=
ENST00000686724.1:n.3346G= (POMGNT1)
ENST00000686737.1:c.1659G= (POMGNT1) ENSP00000508736.1:p.Glu553=
ENST00000687112.1:n.2525G= (POMGNT1)
ENST00000687149.1:c.1698G= (POMGNT1) ENSP00000509745.1:p.Glu566=
ENST00000687197.1:c.*599G= (POMGNT1) ENSP00000510749.1:n.*599G=
ENST00000687235.1:n.3736G= (POMGNT1)
ENST00000687613.1:n.2299G= (POMGNT1)
ENST00000687683.1:c.1659G= (POMGNT1) ENSP00000508522.1:p.Glu553=
ENST00000688032.1:n.2196G= (POMGNT1)
ENST00000688596.1:n.2310G= (POMGNT1)
ENST00000688608.1:c.1560G= (POMGNT1) ENSP00000508890.1:p.Glu520=
ENST00000689031.1:n.2111G= (POMGNT1)
ENST00000689756.1:c.*1291G= (POMGNT1) ENSP00000509023.1:n.*1291G=
ENST00000690377.1:n.2006G= (POMGNT1)
ENST00000690678.1:c.1659G= (POMGNT1) ENSP00000508703.1:p.Glu553=
ENST00000691209.1:c.*599G= (POMGNT1) ENSP00000510112.1:n.*599G=
ENST00000691243.1:c.*50G= (POMGNT1) ENSP00000510654.1:n.*50G=
ENST00000692202.1:n.2234G= (POMGNT1)
ENST00000692322.1:c.*1446G= (POMGNT1) ENSP00000509017.1:n.*1446G=
ENST00000692369.1:c.1659G= (POMGNT1) ENSP00000508453.1:p.Glu553=
ENST00000692599.1:n.3534G= (POMGNT1)
ENST00000692635.1:c.*534G= (POMGNT1) ENSP00000508425.1:n.*534G=
ENST00000693168.1:n.3435G= (POMGNT1)
ENST00000693218.1:c.*220G= (POMGNT1) ENSP00000510577.1:n.*220G=
ENST00000693223.1:n.2607G= (POMGNT1)
ENST00000371984.8:c.1659G= (POMGNT1) MANE Select ENSP00000361052.3:p.Glu553=
ENST00000371984.7:c.1659G= (POMGNT1) ENSP00000361052.3:p.Glu553=
ENST00000371992.1:c.1659G= (POMGNT1) ENSP00000361060.1:p.Glu553=
ENST00000396420.7:c.*1328G= (POMGNT1) ENSP00000379698.3:n.*1328G=
ENST00000480972.1:n.308G= (POMGNT1)
NM_001243766.1:c.1659G= (POMGNT1) NP_001230695.1:p.Glu553=
NM_001290129.1:c.1593G= (POMGNT1) NP_001277058.1:p.Glu531=
NM_001290130.1:c.1230G= (POMGNT1) NP_001277059.1:p.Glu410=
NM_017739.3:c.1659G= (POMGNT1) NP_060209.3:p.Glu553=
XM_005271010.1:c.1659G= (POMGNT1) XP_005271067.1:p.Glu553=
XM_006710755.1:c.1659G= (POMGNT1) XP_006710818.1:p.Glu553=
XM_006710756.1:c.1659G= (POMGNT1) XP_006710819.1:p.Glu553=
XM_011540460.1:c.678+4672C= (TSPAN1) XP_011538762.1:n.678+4672C=
XM_011540461.1:c.633+4672C= (TSPAN1) XP_011538763.1:n.633+4672C=
XM_011541759.1:c.1593G= (POMGNT1) XP_011540061.1:p.Glu531=
XM_011541760.1:c.1593G= (POMGNT1) XP_011540062.1:p.Glu531=
XM_011541761.1:c.567G= (POMGNT1) XP_011540063.1:p.Glu189=
XM_011540460.3:c.678+4672C= (TSPAN1) XP_011538762.1:n.678+4672C=
XM_011541760.3:c.1593G= (POMGNT1) XP_011540062.1:p.Glu531=
XM_017001690.1:c.1659G= (POMGNT1) XP_016857179.1:p.Glu553=
NM_001243766.2:c.1659G= (POMGNT1) NP_001230695.2:p.Glu553=
NM_001290129.2:c.1593G= (POMGNT1) NP_001277058.2:p.Glu531=
NM_001290130.2:c.1230G= (POMGNT1) NP_001277059.2:p.Glu410=
NM_017739.4:c.1659G= (POMGNT1) MANE Select NP_060209.4:p.Glu553=