Canonical Allele Identifier: CA2474081174
Gene: POMGNT1 HGNC NCBI
TSPAN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.46189960T= , CM000663.2:g.46189960T= GRCh38
NC_000001.10:g.46655632T= , CM000663.1:g.46655632T= GRCh37
NC_000001.9:g.46428219T= NCBI36
NG_009205.2:g.35346A=
NG_009205.3:g.35346A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000396420.8:c.1679A= (POMGNT1) ENSP00000379698.4:p.Asn560=
ENST00000497439.6:n.1851A= (POMGNT1)
ENST00000684817.1:n.2039A= (POMGNT1)
ENST00000684898.1:n.2241A= (POMGNT1)
ENST00000685230.1:c.*989A= (POMGNT1) ENSP00000510305.1:n.*989A=
ENST00000685275.1:n.2226A= (POMGNT1)
ENST00000685444.1:c.1580A= (POMGNT1) ENSP00000510762.1:p.Asn527=
ENST00000685704.1:n.2345A= (POMGNT1)
ENST00000685833.1:n.4072A= (POMGNT1)
ENST00000686252.1:n.2753A= (POMGNT1)
ENST00000686379.1:c.*803A= (POMGNT1) ENSP00000508913.1:n.*803A=
ENST00000686724.1:n.3366A= (POMGNT1)
ENST00000686737.1:c.1679A= (POMGNT1) ENSP00000508736.1:p.Asn560=
ENST00000687112.1:n.2545A= (POMGNT1)
ENST00000687149.1:c.1718A= (POMGNT1) ENSP00000509745.1:p.Asn573=
ENST00000687197.1:c.*619A= (POMGNT1) ENSP00000510749.1:n.*619A=
ENST00000687235.1:n.3756A= (POMGNT1)
ENST00000687613.1:n.2319A= (POMGNT1)
ENST00000687683.1:c.1679A= (POMGNT1) ENSP00000508522.1:p.Asn560=
ENST00000688032.1:n.2216A= (POMGNT1)
ENST00000688596.1:n.2330A= (POMGNT1)
ENST00000688608.1:c.1580A= (POMGNT1) ENSP00000508890.1:p.Asn527=
ENST00000689031.1:n.2131A= (POMGNT1)
ENST00000689756.1:c.*1311A= (POMGNT1) ENSP00000509023.1:n.*1311A=
ENST00000690377.1:n.2026A= (POMGNT1)
ENST00000690678.1:c.1679A= (POMGNT1) ENSP00000508703.1:p.Asn560=
ENST00000691209.1:c.*619A= (POMGNT1) ENSP00000510112.1:n.*619A=
ENST00000691243.1:c.*70A= (POMGNT1) ENSP00000510654.1:n.*70A=
ENST00000692202.1:n.2254A= (POMGNT1)
ENST00000692322.1:c.*1466A= (POMGNT1) ENSP00000509017.1:n.*1466A=
ENST00000692369.1:c.1679A= (POMGNT1) ENSP00000508453.1:p.Asn560=
ENST00000692599.1:n.3554A= (POMGNT1)
ENST00000692635.1:c.*554A= (POMGNT1) ENSP00000508425.1:n.*554A=
ENST00000693168.1:n.3455A= (POMGNT1)
ENST00000693218.1:c.*240A= (POMGNT1) ENSP00000510577.1:n.*240A=
ENST00000693223.1:n.2627A= (POMGNT1)
ENST00000371984.8:c.1679A= (POMGNT1) MANE Select ENSP00000361052.3:p.Asn560=
ENST00000371984.7:c.1679A= (POMGNT1) ENSP00000361052.3:p.Asn560=
ENST00000371992.1:c.1679A= (POMGNT1) ENSP00000361060.1:p.Asn560=
ENST00000396420.7:c.*1348A= (POMGNT1) ENSP00000379698.3:n.*1348A=
ENST00000480972.1:n.328A= (POMGNT1)
NM_001243766.1:c.1679A= (POMGNT1) NP_001230695.1:p.Asn560=
NM_001290129.1:c.1613A= (POMGNT1) NP_001277058.1:p.Asn538=
NM_001290130.1:c.1250A= (POMGNT1) NP_001277059.1:p.Asn417=
NM_017739.3:c.1679A= (POMGNT1) NP_060209.3:p.Asn560=
XM_005271010.1:c.1679A= (POMGNT1) XP_005271067.1:p.Asn560=
XM_006710755.1:c.1679A= (POMGNT1) XP_006710818.1:p.Asn560=
XM_006710756.1:c.1679A= (POMGNT1) XP_006710819.1:p.Asn560=
XM_011540460.1:c.678+4652T= (TSPAN1) XP_011538762.1:n.678+4652T=
XM_011540461.1:c.633+4652T= (TSPAN1) XP_011538763.1:n.633+4652T=
XM_011541759.1:c.1613A= (POMGNT1) XP_011540061.1:p.Asn538=
XM_011541760.1:c.1613A= (POMGNT1) XP_011540062.1:p.Asn538=
XM_011541761.1:c.587A= (POMGNT1) XP_011540063.1:p.Asn196=
XM_011540460.3:c.678+4652T= (TSPAN1) XP_011538762.1:n.678+4652T=
XM_011541760.3:c.1613A= (POMGNT1) XP_011540062.1:p.Asn538=
XM_017001690.1:c.1679A= (POMGNT1) XP_016857179.1:p.Asn560=
NM_001243766.2:c.1679A= (POMGNT1) NP_001230695.2:p.Asn560=
NM_001290129.2:c.1613A= (POMGNT1) NP_001277058.2:p.Asn538=
NM_001290130.2:c.1250A= (POMGNT1) NP_001277059.2:p.Asn417=
NM_017739.4:c.1679A= (POMGNT1) MANE Select NP_060209.4:p.Asn560=