Canonical Allele Identifier: CA2474081170
Gene: POMGNT1 HGNC NCBI
TSPAN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.46189952C= , CM000663.2:g.46189952C= GRCh38
NC_000001.10:g.46655624C= , CM000663.1:g.46655624C= GRCh37
NC_000001.9:g.46428211C= NCBI36
NG_009205.2:g.35354G=
NG_009205.3:g.35354G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000396420.8:c.1687G= (POMGNT1) ENSP00000379698.4:p.Glu563=
ENST00000497439.6:n.1859G= (POMGNT1)
ENST00000684817.1:n.2047G= (POMGNT1)
ENST00000684898.1:n.2249G= (POMGNT1)
ENST00000685230.1:c.*997G= (POMGNT1) ENSP00000510305.1:n.*997G=
ENST00000685275.1:n.2234G= (POMGNT1)
ENST00000685444.1:c.1588G= (POMGNT1) ENSP00000510762.1:p.Glu530=
ENST00000685704.1:n.2353G= (POMGNT1)
ENST00000685833.1:n.4080G= (POMGNT1)
ENST00000686252.1:n.2761G= (POMGNT1)
ENST00000686379.1:c.*811G= (POMGNT1) ENSP00000508913.1:n.*811G=
ENST00000686724.1:n.3374G= (POMGNT1)
ENST00000686737.1:c.1687G= (POMGNT1) ENSP00000508736.1:p.Glu563=
ENST00000687112.1:n.2553G= (POMGNT1)
ENST00000687149.1:c.1726G= (POMGNT1) ENSP00000509745.1:p.Glu576=
ENST00000687197.1:c.*627G= (POMGNT1) ENSP00000510749.1:n.*627G=
ENST00000687235.1:n.3764G= (POMGNT1)
ENST00000687613.1:n.2327G= (POMGNT1)
ENST00000687683.1:c.1687G= (POMGNT1) ENSP00000508522.1:p.Glu563=
ENST00000688032.1:n.2224G= (POMGNT1)
ENST00000688596.1:n.2338G= (POMGNT1)
ENST00000688608.1:c.1588G= (POMGNT1) ENSP00000508890.1:p.Glu530=
ENST00000689031.1:n.2139G= (POMGNT1)
ENST00000689756.1:c.*1319G= (POMGNT1) ENSP00000509023.1:n.*1319G=
ENST00000690377.1:n.2034G= (POMGNT1)
ENST00000690678.1:c.1687G= (POMGNT1) ENSP00000508703.1:p.Glu563=
ENST00000691209.1:c.*627G= (POMGNT1) ENSP00000510112.1:n.*627G=
ENST00000691243.1:c.*78G= (POMGNT1) ENSP00000510654.1:n.*78G=
ENST00000692202.1:n.2262G= (POMGNT1)
ENST00000692322.1:c.*1474G= (POMGNT1) ENSP00000509017.1:n.*1474G=
ENST00000692369.1:c.1687G= (POMGNT1) ENSP00000508453.1:p.Glu563=
ENST00000692599.1:n.3562G= (POMGNT1)
ENST00000692635.1:c.*562G= (POMGNT1) ENSP00000508425.1:n.*562G=
ENST00000693168.1:n.3463G= (POMGNT1)
ENST00000693218.1:c.*248G= (POMGNT1) ENSP00000510577.1:n.*248G=
ENST00000693223.1:n.2635G= (POMGNT1)
ENST00000371984.8:c.1687G= (POMGNT1) MANE Select ENSP00000361052.3:p.Glu563=
ENST00000371984.7:c.1687G= (POMGNT1) ENSP00000361052.3:p.Glu563=
ENST00000371992.1:c.1687G= (POMGNT1) ENSP00000361060.1:p.Glu563=
ENST00000396420.7:c.*1356G= (POMGNT1) ENSP00000379698.3:n.*1356G=
ENST00000480972.1:n.336G= (POMGNT1)
NM_001243766.1:c.1687G= (POMGNT1) NP_001230695.1:p.Glu563=
NM_001290129.1:c.1621G= (POMGNT1) NP_001277058.1:p.Glu541=
NM_001290130.1:c.1258G= (POMGNT1) NP_001277059.1:p.Glu420=
NM_017739.3:c.1687G= (POMGNT1) NP_060209.3:p.Glu563=
XM_005271010.1:c.1687G= (POMGNT1) XP_005271067.1:p.Glu563=
XM_006710755.1:c.1687G= (POMGNT1) XP_006710818.1:p.Glu563=
XM_006710756.1:c.1687G= (POMGNT1) XP_006710819.1:p.Glu563=
XM_011540460.1:c.678+4644C= (TSPAN1) XP_011538762.1:n.678+4644C=
XM_011540461.1:c.633+4644C= (TSPAN1) XP_011538763.1:n.633+4644C=
XM_011541759.1:c.1621G= (POMGNT1) XP_011540061.1:p.Glu541=
XM_011541760.1:c.1621G= (POMGNT1) XP_011540062.1:p.Glu541=
XM_011541761.1:c.595G= (POMGNT1) XP_011540063.1:p.Glu199=
XM_011540460.3:c.678+4644C= (TSPAN1) XP_011538762.1:n.678+4644C=
XM_011541760.3:c.1621G= (POMGNT1) XP_011540062.1:p.Glu541=
XM_017001690.1:c.1687G= (POMGNT1) XP_016857179.1:p.Glu563=
NM_001243766.2:c.1687G= (POMGNT1) NP_001230695.2:p.Glu563=
NM_001290129.2:c.1621G= (POMGNT1) NP_001277058.2:p.Glu541=
NM_001290130.2:c.1258G= (POMGNT1) NP_001277059.2:p.Glu420=
NM_017739.4:c.1687G= (POMGNT1) MANE Select NP_060209.4:p.Glu563=