Canonical Allele Identifier: CA340171431
Gene: POMGNT1 HGNC NCBI
TSPAN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.46189925C>A , CM000663.2:g.46189925C>A GRCh38
NC_000001.10:g.46655597C>A , CM000663.1:g.46655597C>A GRCh37
NC_000001.9:g.46428184C>A NCBI36
NG_009205.2:g.35381G>T
NG_009205.3:g.35381G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000396420.8:c.1714G>T (POMGNT1) ENSP00000379698.4:p.Gly572Cys
ENST00000497439.6:n.1886G>T (POMGNT1)
ENST00000684817.1:n.2074G>T (POMGNT1)
ENST00000684898.1:n.2276G>T (POMGNT1)
ENST00000685230.1:c.*1024G>T (POMGNT1) ENSP00000510305.1:n.*1024G>T
ENST00000685275.1:n.2261G>T (POMGNT1)
ENST00000685444.1:c.1615G>T (POMGNT1) ENSP00000510762.1:p.Gly539Cys
ENST00000685704.1:n.2380G>T (POMGNT1)
ENST00000685833.1:n.4107G>T (POMGNT1)
ENST00000686252.1:n.2788G>T (POMGNT1)
ENST00000686379.1:c.*838G>T (POMGNT1) ENSP00000508913.1:n.*838G>T
ENST00000686724.1:n.3401G>T (POMGNT1)
ENST00000686737.1:c.1714G>T (POMGNT1) ENSP00000508736.1:p.Gly572Cys
ENST00000687112.1:n.2580G>T (POMGNT1)
ENST00000687149.1:c.1753G>T (POMGNT1) ENSP00000509745.1:p.Gly585Cys
ENST00000687197.1:c.*654G>T (POMGNT1) ENSP00000510749.1:n.*654G>T
ENST00000687235.1:n.3791G>T (POMGNT1)
ENST00000687613.1:n.2354G>T (POMGNT1)
ENST00000687683.1:c.1714G>T (POMGNT1) ENSP00000508522.1:p.Gly572Cys
ENST00000688032.1:n.2251G>T (POMGNT1)
ENST00000688596.1:n.2365G>T (POMGNT1)
ENST00000688608.1:c.1615G>T (POMGNT1) ENSP00000508890.1:p.Gly539Cys
ENST00000689031.1:n.2166G>T (POMGNT1)
ENST00000689756.1:c.*1346G>T (POMGNT1) ENSP00000509023.1:n.*1346G>T
ENST00000690377.1:n.2061G>T (POMGNT1)
ENST00000690678.1:c.1714G>T (POMGNT1) ENSP00000508703.1:p.Gly572Cys
ENST00000691209.1:c.*654G>T (POMGNT1) ENSP00000510112.1:n.*654G>T
ENST00000691243.1:c.*105G>T (POMGNT1) ENSP00000510654.1:n.*105G>T
ENST00000692202.1:n.2289G>T (POMGNT1)
ENST00000692322.1:c.*1501G>T (POMGNT1) ENSP00000509017.1:n.*1501G>T
ENST00000692369.1:c.1714G>T (POMGNT1) ENSP00000508453.1:p.Gly572Cys
ENST00000692599.1:n.3589G>T (POMGNT1)
ENST00000692635.1:c.*589G>T (POMGNT1) ENSP00000508425.1:n.*589G>T
ENST00000693168.1:n.3490G>T (POMGNT1)
ENST00000693218.1:c.*275G>T (POMGNT1) ENSP00000510577.1:n.*275G>T
ENST00000693223.1:n.2662G>T (POMGNT1)
ENST00000371984.8:c.1714G>T (POMGNT1) MANE Select ENSP00000361052.3:p.Gly572Cys
ENST00000371984.7:c.1714G>T (POMGNT1) ENSP00000361052.3:p.Gly572Cys
ENST00000371992.1:c.1714G>T (POMGNT1) ENSP00000361060.1:p.Gly572Cys
ENST00000396420.7:c.*1383G>T (POMGNT1) ENSP00000379698.3:n.*1383G>T
ENST00000480972.1:n.363G>T (POMGNT1)
NM_001243766.1:c.1714G>T (POMGNT1) NP_001230695.1:p.Gly572Cys
NM_001290129.1:c.1648G>T (POMGNT1) NP_001277058.1:p.Gly550Cys
NM_001290130.1:c.1285G>T (POMGNT1) NP_001277059.1:p.Gly429Cys
NM_017739.3:c.1714G>T (POMGNT1) NP_060209.3:p.Gly572Cys
XM_005271010.1:c.1714G>T (POMGNT1) XP_005271067.1:p.Gly572Cys
XM_006710755.1:c.1714G>T (POMGNT1) XP_006710818.1:p.Gly572Cys
XM_006710756.1:c.1714G>T (POMGNT1) XP_006710819.1:p.Gly572Cys
XM_011540460.1:c.678+4617C>A (TSPAN1) XP_011538762.1:n.678+4617C>A
XM_011540461.1:c.633+4617C>A (TSPAN1) XP_011538763.1:n.633+4617C>A
XM_011541759.1:c.1648G>T (POMGNT1) XP_011540061.1:p.Gly550Cys
XM_011541760.1:c.1648G>T (POMGNT1) XP_011540062.1:p.Gly550Cys
XM_011541761.1:c.622G>T (POMGNT1) XP_011540063.1:p.Gly208Cys
XM_011540460.3:c.678+4617C>A (TSPAN1) XP_011538762.1:n.678+4617C>A
XM_011541760.3:c.1648G>T (POMGNT1) XP_011540062.1:p.Gly550Cys
XM_017001690.1:c.1714G>T (POMGNT1) XP_016857179.1:p.Gly572Cys
NM_001243766.2:c.1714G>T (POMGNT1) NP_001230695.2:p.Gly572Cys
NM_001290129.2:c.1648G>T (POMGNT1) NP_001277058.2:p.Gly550Cys
NM_001290130.2:c.1285G>T (POMGNT1) NP_001277059.2:p.Gly429Cys
NM_017739.4:c.1714G>T (POMGNT1) MANE Select NP_060209.4:p.Gly572Cys