Canonical Allele Identifier: CA658656908
Gene: POMGNT1 HGNC NCBI
TSPAN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.46189486T= , CM000663.2:g.46189486T= GRCh38
NC_000001.10:g.46655158T= , CM000663.1:g.46655158T= GRCh37
NC_000001.9:g.46427745T= NCBI36
NG_009205.3:g.35820A=

Transcript Alleles

HGVS Amino-acid Change
NM_017739.4:c.1867A= (POMGNT1) MANE Select NP_060209.4:p.Met623=
ENST00000371984.8:c.1867A= (POMGNT1) MANE Select ENSP00000361052.3:p.Met623=
NM_001243766.2:c.1867A= (POMGNT1) NP_001230695.2:p.Met623=
NM_001290129.2:c.1801A= (POMGNT1) NP_001277058.2:p.Met601=
NM_001290130.2:c.1438A= (POMGNT1) NP_001277059.2:p.Met480=
ENST00000371984.7:c.1867A= (POMGNT1) ENSP00000361052.3:p.Met623=
ENST00000371992.1:c.1867A= (POMGNT1) ENSP00000361060.1:p.Met623=
ENST00000396420.7:c.*1536A= (POMGNT1) ENSP00000379698.3:n.*1536A=
ENST00000396420.8:c.1867A= (POMGNT1) ENSP00000379698.4:p.Met623=
ENST00000475642.1:n.82A= (POMGNT1)
ENST00000497439.6:n.2039A= (POMGNT1)
ENST00000684817.1:n.2227A= (POMGNT1)
ENST00000684898.1:n.2429A= (POMGNT1)
ENST00000685230.1:c.*1177A= (POMGNT1) ENSP00000510305.1:n.*1177A=
ENST00000685275.1:n.2414A= (POMGNT1)
ENST00000685444.1:c.1768A= (POMGNT1) ENSP00000510762.1:p.Met590=
ENST00000685704.1:n.2533A= (POMGNT1)
ENST00000685833.1:n.4260A= (POMGNT1)
ENST00000686252.1:n.2941A= (POMGNT1)
ENST00000686379.1:c.*991A= (POMGNT1) ENSP00000508913.1:n.*991A=
ENST00000686724.1:n.3554A= (POMGNT1)
ENST00000686737.1:c.1867A= (POMGNT1) ENSP00000508736.1:p.Met623=
ENST00000687112.1:n.2733A= (POMGNT1)
ENST00000687149.1:c.1906A= (POMGNT1) ENSP00000509745.1:p.Met636=
ENST00000687197.1:c.*807A= (POMGNT1) ENSP00000510749.1:n.*807A=
ENST00000687235.1:n.3944A= (POMGNT1)
ENST00000687613.1:n.2507A= (POMGNT1)
ENST00000687683.1:c.1867A= (POMGNT1) ENSP00000508522.1:p.Met623=
ENST00000688032.1:n.2404A= (POMGNT1)
ENST00000688596.1:n.2518A= (POMGNT1)
ENST00000688608.1:c.1768A= (POMGNT1) ENSP00000508890.1:p.Met590=
ENST00000689031.1:n.2319A= (POMGNT1)
ENST00000689756.1:c.*1499A= (POMGNT1) ENSP00000509023.1:n.*1499A=
ENST00000690377.1:n.2214A= (POMGNT1)
ENST00000690678.1:c.1867A= (POMGNT1) ENSP00000508703.1:p.Met623=
ENST00000691185.1:n.338A= (POMGNT1)
ENST00000691209.1:c.*807A= (POMGNT1) ENSP00000510112.1:n.*807A=
ENST00000691243.1:c.*258A= (POMGNT1) ENSP00000510654.1:n.*258A=
ENST00000692202.1:n.2442A= (POMGNT1)
ENST00000692322.1:c.*1654A= (POMGNT1) ENSP00000509017.1:n.*1654A=
ENST00000692369.1:c.1867A= (POMGNT1) ENSP00000508453.1:p.Met623=
ENST00000692599.1:n.3742A= (POMGNT1)
ENST00000692635.1:c.*742A= (POMGNT1) ENSP00000508425.1:n.*742A=
ENST00000693168.1:n.3643A= (POMGNT1)
ENST00000693218.1:c.*428A= (POMGNT1) ENSP00000510577.1:n.*428A=
ENST00000693223.1:n.2815A= (POMGNT1)
XM_005271010.1:c.1867A= (POMGNT1) XP_005271067.1:p.Met623=
XM_006710755.1:c.1867A= (POMGNT1) XP_006710818.1:p.Met623=
XM_006710756.1:c.1867A= (POMGNT1) XP_006710819.1:p.Met623=
XM_011540460.1:c.678+4178T= (TSPAN1) XP_011538762.1:n.678+4178T=
XM_011540460.3:c.678+4178T= (TSPAN1) XP_011538762.1:n.678+4178T=
XM_011540461.1:c.633+4178T= (TSPAN1) XP_011538763.1:n.633+4178T=
XM_011541759.1:c.1801A= (POMGNT1) XP_011540061.1:p.Met601=
XM_011541760.1:c.1801A= (POMGNT1) XP_011540062.1:p.Met601=
XM_011541760.3:c.1801A= (POMGNT1) XP_011540062.1:p.Met601=
XM_011541761.1:c.775A= (POMGNT1) XP_011540063.1:p.Met259=
XM_017001690.1:c.1867A= (POMGNT1) XP_016857179.1:p.Met623=