Canonical Allele Identifier: CA340173510
Gene: POMGNT1 HGNC NCBI
TSPAN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.46192151A>T , CM000663.2:g.46192151A>T GRCh38
NC_000001.10:g.46657823A>T , CM000663.1:g.46657823A>T GRCh37
NC_000001.9:g.46430410A>T NCBI36
NG_009205.2:g.33155T>A
NG_009205.3:g.33155T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000396420.8:c.1486T>A (POMGNT1) ENSP00000379698.4:p.Ser496Thr
ENST00000477114.2:n.2048T>A (POMGNT1)
ENST00000497439.6:n.1658T>A (POMGNT1)
ENST00000684817.1:n.1846T>A (POMGNT1)
ENST00000684898.1:n.2048T>A (POMGNT1)
ENST00000685230.1:c.*796T>A (POMGNT1) ENSP00000510305.1:n.*796T>A
ENST00000685275.1:n.2033T>A (POMGNT1)
ENST00000685444.1:c.1387T>A (POMGNT1) ENSP00000510762.1:p.Ser463Thr
ENST00000685704.1:n.2048T>A (POMGNT1)
ENST00000685775.1:n.3013T>A (POMGNT1)
ENST00000685833.1:n.2364T>A (POMGNT1)
ENST00000686252.1:n.2560T>A (POMGNT1)
ENST00000686379.1:c.*610T>A (POMGNT1) ENSP00000508913.1:n.*610T>A
ENST00000686724.1:n.1658T>A (POMGNT1)
ENST00000686737.1:c.1486T>A (POMGNT1) ENSP00000508736.1:p.Ser496Thr
ENST00000687112.1:n.2352T>A (POMGNT1)
ENST00000687149.1:c.1486T>A (POMGNT1) ENSP00000509745.1:p.Ser496Thr
ENST00000687197.1:c.*426T>A (POMGNT1) ENSP00000510749.1:n.*426T>A
ENST00000687235.1:n.2048T>A (POMGNT1)
ENST00000687613.1:n.2236T>A (POMGNT1)
ENST00000687683.1:c.1486T>A (POMGNT1) ENSP00000508522.1:p.Ser496Thr
ENST00000688032.1:n.2048T>A (POMGNT1)
ENST00000688596.1:n.2137T>A (POMGNT1)
ENST00000688608.1:c.1387T>A (POMGNT1) ENSP00000508890.1:p.Ser463Thr
ENST00000688919.1:n.2682T>A (POMGNT1)
ENST00000689031.1:n.2048T>A (POMGNT1)
ENST00000689717.1:n.1658T>A (POMGNT1)
ENST00000689756.1:c.*1118T>A (POMGNT1) ENSP00000509023.1:n.*1118T>A
ENST00000690377.1:n.1833T>A (POMGNT1)
ENST00000690678.1:c.1486T>A (POMGNT1) ENSP00000508703.1:p.Ser496Thr
ENST00000691209.1:c.*426T>A (POMGNT1) ENSP00000510112.1:n.*426T>A
ENST00000691243.1:c.1486T>A (POMGNT1) ENSP00000510654.1:p.Ser496Thr
ENST00000692169.1:n.1635T>A (POMGNT1)
ENST00000692202.1:n.2061T>A (POMGNT1)
ENST00000692322.1:c.*1338T>A (POMGNT1) ENSP00000509017.1:n.*1338T>A
ENST00000692369.1:c.1486T>A (POMGNT1) ENSP00000508453.1:p.Ser496Thr
ENST00000692599.1:n.2048T>A (POMGNT1)
ENST00000692635.1:c.*426T>A (POMGNT1) ENSP00000508425.1:n.*426T>A
ENST00000693168.1:n.1747T>A (POMGNT1)
ENST00000693218.1:c.1486T>A (POMGNT1) ENSP00000510577.1:p.Ser496Thr
ENST00000693223.1:n.2434T>A (POMGNT1)
ENST00000693365.1:n.4120T>A (POMGNT1)
ENST00000371984.8:c.1486T>A (POMGNT1) MANE Select ENSP00000361052.3:p.Ser496Thr
ENST00000371984.7:c.1486T>A (POMGNT1) ENSP00000361052.3:p.Ser496Thr
ENST00000371992.1:c.1486T>A (POMGNT1) ENSP00000361060.1:p.Ser496Thr
ENST00000396420.7:c.*1155T>A (POMGNT1) ENSP00000379698.3:n.*1155T>A
ENST00000463030.1:n.107T>A (POMGNT1)
ENST00000485714.1:n.872T>A (POMGNT1)
NM_001243766.1:c.1486T>A (POMGNT1) NP_001230695.1:p.Ser496Thr
NM_001290129.1:c.1420T>A (POMGNT1) NP_001277058.1:p.Ser474Thr
NM_001290130.1:c.1057T>A (POMGNT1) NP_001277059.1:p.Ser353Thr
NM_017739.3:c.1486T>A (POMGNT1) NP_060209.3:p.Ser496Thr
XM_005271010.1:c.1486T>A (POMGNT1) XP_005271067.1:p.Ser496Thr
XM_006710755.1:c.1486T>A (POMGNT1) XP_006710818.1:p.Ser496Thr
XM_006710756.1:c.1486T>A (POMGNT1) XP_006710819.1:p.Ser496Thr
XM_011540460.1:c.679-4051A>T (TSPAN1) XP_011538762.1:n.679-4051A>T
XM_011540461.1:c.634-4051A>T (TSPAN1) XP_011538763.1:n.634-4051A>T
XM_011541759.1:c.1420T>A (POMGNT1) XP_011540061.1:p.Ser474Thr
XM_011541760.1:c.1420T>A (POMGNT1) XP_011540062.1:p.Ser474Thr
XM_011541761.1:c.394T>A (POMGNT1) XP_011540063.1:p.Ser132Thr
XR_946706.1:n.1646T>A (POMGNT1)
XM_011540460.3:c.679-4051A>T (TSPAN1) XP_011538762.1:n.679-4051A>T
XM_011541760.3:c.1420T>A (POMGNT1) XP_011540062.1:p.Ser474Thr
XM_017001690.1:c.1486T>A (POMGNT1) XP_016857179.1:p.Ser496Thr
NM_001243766.2:c.1486T>A (POMGNT1) NP_001230695.2:p.Ser496Thr
NM_001290129.2:c.1420T>A (POMGNT1) NP_001277058.2:p.Ser474Thr
NM_001290130.2:c.1057T>A (POMGNT1) NP_001277059.2:p.Ser353Thr
NM_017739.4:c.1486T>A (POMGNT1) MANE Select NP_060209.4:p.Ser496Thr