Canonical Allele Identifier: CA2645438479
Gene: POMGNT1 HGNC NCBI
TSPAN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.46189131A>G , CM000663.2:g.46189131A>G GRCh38
NC_000001.10:g.46654803A>G , CM000663.1:g.46654803A>G GRCh37
NC_000001.9:g.46427390A>G NCBI36
NG_009205.2:g.36175T>C
NG_009205.3:g.36175T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000396420.8:c.*139T>C (POMGNT1) ENSP00000379698.4:n.*139T>C
ENST00000497439.6:n.2294T>C (POMGNT1)
ENST00000684817.1:n.2482T>C (POMGNT1)
ENST00000684898.1:n.2784T>C (POMGNT1)
ENST00000685230.1:c.*1432T>C (POMGNT1) ENSP00000510305.1:n.*1432T>C
ENST00000685275.1:n.2669T>C (POMGNT1)
ENST00000685444.1:c.*139T>C (POMGNT1) ENSP00000510762.1:n.*139T>C
ENST00000685704.1:n.2788T>C (POMGNT1)
ENST00000685833.1:n.4515T>C (POMGNT1)
ENST00000686252.1:n.3196T>C (POMGNT1)
ENST00000686379.1:c.*1246T>C (POMGNT1) ENSP00000508913.1:n.*1246T>C
ENST00000686724.1:n.3809T>C (POMGNT1)
ENST00000686737.1:c.*139T>C (POMGNT1) ENSP00000508736.1:n.*139T>C
ENST00000687112.1:n.2988T>C (POMGNT1)
ENST00000687149.1:c.*139T>C (POMGNT1) ENSP00000509745.1:n.*139T>C
ENST00000687197.1:c.*836-151T>C (POMGNT1) ENSP00000510749.1:n.*836-151T>C
ENST00000687235.1:n.4199T>C (POMGNT1)
ENST00000687613.1:n.2762T>C (POMGNT1)
ENST00000687683.1:c.*139T>C (POMGNT1) ENSP00000508522.1:n.*139T>C
ENST00000688032.1:n.2659T>C (POMGNT1)
ENST00000688596.1:n.2773T>C (POMGNT1)
ENST00000688608.1:c.*139T>C (POMGNT1) ENSP00000508890.1:n.*139T>C
ENST00000689031.1:n.2348-151T>C (POMGNT1)
ENST00000689756.1:c.*1754T>C (POMGNT1) ENSP00000509023.1:n.*1754T>C
ENST00000690377.1:n.2358+111T>C (POMGNT1)
ENST00000690678.1:c.*90+49T>C (POMGNT1) ENSP00000508703.1:n.*90+49T>C
ENST00000691185.1:n.593T>C (POMGNT1)
ENST00000691209.1:c.*1062T>C (POMGNT1) ENSP00000510112.1:n.*1062T>C
ENST00000691243.1:c.*513T>C (POMGNT1) ENSP00000510654.1:n.*513T>C
ENST00000692202.1:n.2697T>C (POMGNT1)
ENST00000692322.1:c.*2009T>C (POMGNT1) ENSP00000509017.1:n.*2009T>C
ENST00000692369.1:c.1896-151T>C (POMGNT1) ENSP00000508453.1:n.1896-151T>C
ENST00000692599.1:n.3997T>C (POMGNT1)
ENST00000692635.1:c.*997T>C (POMGNT1) ENSP00000508425.1:n.*997T>C
ENST00000693168.1:n.3898T>C (POMGNT1)
ENST00000693218.1:c.*683T>C (POMGNT1) ENSP00000510577.1:n.*683T>C
ENST00000693223.1:n.3070T>C (POMGNT1)
ENST00000371984.8:c.*139T>C (POMGNT1) MANE Select ENSP00000361052.3:n.*139T>C
ENST00000371984.7:c.*139T>C (POMGNT1) ENSP00000361052.3:n.*139T>C
ENST00000371992.1:c.1985+111T>C (POMGNT1) ENSP00000361060.1:n.1985+111T>C
ENST00000396420.7:c.*1791T>C (POMGNT1) ENSP00000379698.3:n.*1791T>C
ENST00000475642.1:n.111-151T>C (POMGNT1)
NM_001243766.1:c.1985+111T>C (POMGNT1) NP_001230695.1:n.1985+111T>C
NM_001290129.1:c.*28+111T>C (POMGNT1) NP_001277058.1:n.*28+111T>C
NM_001290130.1:c.*28+111T>C (POMGNT1) NP_001277059.1:n.*28+111T>C
NM_017739.3:c.*139T>C (POMGNT1) NP_060209.3:n.*139T>C
XM_005271010.1:c.1896-151T>C (POMGNT1) XP_005271067.1:n.1896-151T>C
XM_006710755.1:c.1896-151T>C (POMGNT1) XP_006710818.1:n.1896-151T>C
XM_006710756.1:c.1985+111T>C (POMGNT1) XP_006710819.1:n.1985+111T>C
XM_011540460.1:c.678+3823A>G (TSPAN1) XP_011538762.1:n.678+3823A>G
XM_011540461.1:c.633+3823A>G (TSPAN1) XP_011538763.1:n.633+3823A>G
XM_011541759.1:c.1830-151T>C (POMGNT1) XP_011540061.1:n.1830-151T>C
XM_011541760.1:c.*139T>C (POMGNT1) XP_011540062.1:n.*139T>C
XM_011541761.1:c.804-151T>C (POMGNT1) XP_011540063.1:n.804-151T>C
XM_011540460.3:c.678+3823A>G (TSPAN1) XP_011538762.1:n.678+3823A>G
XM_011541760.3:c.*139T>C (POMGNT1) XP_011540062.1:n.*139T>C
XM_017001690.1:c.*139T>C (POMGNT1) XP_016857179.1:n.*139T>C
NM_001243766.2:c.1985+111T>C (POMGNT1) NP_001230695.2:n.1985+111T>C
NM_001290129.2:c.*28+111T>C (POMGNT1) NP_001277058.2:n.*28+111T>C
NM_001290130.2:c.*28+111T>C (POMGNT1) NP_001277059.2:n.*28+111T>C
NM_017739.4:c.*139T>C (POMGNT1) MANE Select NP_060209.4:n.*139T>C