Canonical Allele Identifier: CA340172442
Community Standard Title: NM_017739.4(POMGNT1):c.1585C>T (p.Gln529Ter)
Gene: POMGNT1 HGNC NCBI
TSPAN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.46190739G>A , CM000663.2:g.46190739G>A GRCh38
NC_000001.10:g.46656411G>A , CM000663.1:g.46656411G>A GRCh37
NC_000001.9:g.46428998G>A NCBI36
NG_009205.2:g.34567C>T
NG_009205.3:g.34567C>T

Transcript Alleles

HGVS Amino-acid Change
NM_017739.4:c.1585C>T (POMGNT1) MANE Select NP_060209.4:p.Gln529Ter
ENST00000371984.8:c.1585C>T (POMGNT1) MANE Select ENSP00000361052.3:p.Gln529Ter
NM_001243766.1:c.1585C>T (POMGNT1) NP_001230695.1:p.Gln529Ter
NM_001243766.2:c.1585C>T (POMGNT1) NP_001230695.2:p.Gln529Ter
NM_001290129.1:c.1519C>T (POMGNT1) NP_001277058.1:p.Gln507Ter
NM_001290129.2:c.1519C>T (POMGNT1) NP_001277058.2:p.Gln507Ter
NM_001290130.1:c.1156C>T (POMGNT1) NP_001277059.1:p.Gln386Ter
NM_001290130.2:c.1156C>T (POMGNT1) NP_001277059.2:p.Gln386Ter
NM_017739.3:c.1585C>T (POMGNT1) NP_060209.3:p.Gln529Ter
ENST00000371984.7:c.1585C>T (POMGNT1) ENSP00000361052.3:p.Gln529Ter
ENST00000371992.1:c.1585C>T (POMGNT1) ENSP00000361060.1:p.Gln529Ter
ENST00000396420.7:c.*1254C>T (POMGNT1) ENSP00000379698.3:n.*1254C>T
ENST00000396420.8:c.1585C>T (POMGNT1) ENSP00000379698.4:p.Gln529Ter
ENST00000477114.2:n.2147C>T (POMGNT1)
ENST00000480972.1:n.234C>T (POMGNT1)
ENST00000485714.1:n.2284C>T (POMGNT1)
ENST00000497439.6:n.1757C>T (POMGNT1)
ENST00000684817.1:n.1945C>T (POMGNT1)
ENST00000684898.1:n.2147C>T (POMGNT1)
ENST00000685230.1:c.*895C>T (POMGNT1) ENSP00000510305.1:n.*895C>T
ENST00000685275.1:n.2132C>T (POMGNT1)
ENST00000685444.1:c.1486C>T (POMGNT1) ENSP00000510762.1:p.Gln496Ter
ENST00000685704.1:n.2147C>T (POMGNT1)
ENST00000685775.1:n.4425C>T (POMGNT1)
ENST00000685833.1:n.3776C>T (POMGNT1)
ENST00000686252.1:n.2659C>T (POMGNT1)
ENST00000686379.1:c.*709C>T (POMGNT1) ENSP00000508913.1:n.*709C>T
ENST00000686724.1:n.3070C>T (POMGNT1)
ENST00000686737.1:c.1585C>T (POMGNT1) ENSP00000508736.1:p.Gln529Ter
ENST00000687112.1:n.2451C>T (POMGNT1)
ENST00000687149.1:c.1540-118C>T (POMGNT1) ENSP00000509745.1:n.1540-118C>T
ENST00000687197.1:c.*525C>T (POMGNT1) ENSP00000510749.1:n.*525C>T
ENST00000687235.1:n.3460C>T (POMGNT1)
ENST00000687613.1:n.2290-750C>T (POMGNT1)
ENST00000687683.1:c.1585C>T (POMGNT1) ENSP00000508522.1:p.Gln529Ter
ENST00000688032.1:n.2141+6C>T (POMGNT1)
ENST00000688596.1:n.2236C>T (POMGNT1)
ENST00000688608.1:c.1486C>T (POMGNT1) ENSP00000508890.1:p.Gln496Ter
ENST00000688919.1:n.2781C>T (POMGNT1)
ENST00000689031.1:n.2102-750C>T (POMGNT1)
ENST00000689717.1:n.1757C>T (POMGNT1)
ENST00000689756.1:c.*1217C>T (POMGNT1) ENSP00000509023.1:n.*1217C>T
ENST00000690377.1:n.1932C>T (POMGNT1)
ENST00000690678.1:c.1585C>T (POMGNT1) ENSP00000508703.1:p.Gln529Ter
ENST00000691209.1:c.*525C>T (POMGNT1) ENSP00000510112.1:n.*525C>T
ENST00000691243.1:c.1579+6C>T (POMGNT1) ENSP00000510654.1:n.1579+6C>T
ENST00000692169.1:n.3047C>T (POMGNT1)
ENST00000692202.1:n.2160C>T (POMGNT1)
ENST00000692322.1:c.*1392-222C>T (POMGNT1) ENSP00000509017.1:n.*1392-222C>T
ENST00000692369.1:c.1585C>T (POMGNT1) ENSP00000508453.1:p.Gln529Ter
ENST00000692599.1:n.3460C>T (POMGNT1)
ENST00000692635.1:c.*480-222C>T (POMGNT1) ENSP00000508425.1:n.*480-222C>T
ENST00000693168.1:n.3159C>T (POMGNT1)
ENST00000693218.1:c.1585C>T (POMGNT1) ENSP00000510577.1:p.Gln529Ter
ENST00000693223.1:n.2533C>T (POMGNT1)
ENST00000693365.1:n.5532C>T (POMGNT1)
XM_005271010.1:c.1585C>T (POMGNT1) XP_005271067.1:p.Gln529Ter
XM_006710755.1:c.1585C>T (POMGNT1) XP_006710818.1:p.Gln529Ter
XM_006710756.1:c.1585C>T (POMGNT1) XP_006710819.1:p.Gln529Ter
XM_011540460.1:c.678+5431G>A (TSPAN1) XP_011538762.1:n.678+5431G>A
XM_011540460.3:c.678+5431G>A (TSPAN1) XP_011538762.1:n.678+5431G>A
XM_011540461.1:c.633+5431G>A (TSPAN1) XP_011538763.1:n.633+5431G>A
XM_011541759.1:c.1519C>T (POMGNT1) XP_011540061.1:p.Gln507Ter
XM_011541760.1:c.1519C>T (POMGNT1) XP_011540062.1:p.Gln507Ter
XM_011541760.3:c.1519C>T (POMGNT1) XP_011540062.1:p.Gln507Ter
XM_011541761.1:c.493C>T (POMGNT1) XP_011540063.1:p.Gln165Ter
XM_017001690.1:c.1585C>T (POMGNT1) XP_016857179.1:p.Gln529Ter