Canonical Allele Identifier: CA2474081395
Gene: POMGNT1 HGNC NCBI
TSPAN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.46190480G= , CM000663.2:g.46190480G= GRCh38
NC_000001.10:g.46656152G= , CM000663.1:g.46656152G= GRCh37
NC_000001.9:g.46428739G= NCBI36
NG_009205.2:g.34826C=
NG_009205.3:g.34826C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000396420.8:c.1642C= (POMGNT1) ENSP00000379698.4:p.Leu548=
ENST00000477114.2:n.2204C= (POMGNT1)
ENST00000497439.6:n.1814C= (POMGNT1)
ENST00000684817.1:n.2002C= (POMGNT1)
ENST00000684898.1:n.2204C= (POMGNT1)
ENST00000685230.1:c.*952C= (POMGNT1) ENSP00000510305.1:n.*952C=
ENST00000685275.1:n.2189C= (POMGNT1)
ENST00000685444.1:c.1543C= (POMGNT1) ENSP00000510762.1:p.Leu515=
ENST00000685704.1:n.2308C= (POMGNT1)
ENST00000685775.1:n.4684C= (POMGNT1)
ENST00000685833.1:n.4035C= (POMGNT1)
ENST00000686252.1:n.2716C= (POMGNT1)
ENST00000686379.1:c.*766C= (POMGNT1) ENSP00000508913.1:n.*766C=
ENST00000686724.1:n.3329C= (POMGNT1)
ENST00000686737.1:c.1642C= (POMGNT1) ENSP00000508736.1:p.Leu548=
ENST00000687112.1:n.2508C= (POMGNT1)
ENST00000687149.1:c.1681C= (POMGNT1) ENSP00000509745.1:p.Leu561=
ENST00000687197.1:c.*582C= (POMGNT1) ENSP00000510749.1:n.*582C=
ENST00000687235.1:n.3719C= (POMGNT1)
ENST00000687613.1:n.2290-491C= (POMGNT1)
ENST00000687683.1:c.1642C= (POMGNT1) ENSP00000508522.1:p.Leu548=
ENST00000688032.1:n.2179C= (POMGNT1)
ENST00000688596.1:n.2293C= (POMGNT1)
ENST00000688608.1:c.1543C= (POMGNT1) ENSP00000508890.1:p.Leu515=
ENST00000688919.1:n.3040C= (POMGNT1)
ENST00000689031.1:n.2102-491C= (POMGNT1)
ENST00000689717.1:n.2016C= (POMGNT1)
ENST00000689756.1:c.*1274C= (POMGNT1) ENSP00000509023.1:n.*1274C=
ENST00000690377.1:n.1989C= (POMGNT1)
ENST00000690678.1:c.1642C= (POMGNT1) ENSP00000508703.1:p.Leu548=
ENST00000691209.1:c.*582C= (POMGNT1) ENSP00000510112.1:n.*582C=
ENST00000691243.1:c.*33C= (POMGNT1) ENSP00000510654.1:n.*33C=
ENST00000692169.1:n.3306C= (POMGNT1)
ENST00000692202.1:n.2217C= (POMGNT1)
ENST00000692322.1:c.*1429C= (POMGNT1) ENSP00000509017.1:n.*1429C=
ENST00000692369.1:c.1642C= (POMGNT1) ENSP00000508453.1:p.Leu548=
ENST00000692599.1:n.3517C= (POMGNT1)
ENST00000692635.1:c.*517C= (POMGNT1) ENSP00000508425.1:n.*517C=
ENST00000693168.1:n.3418C= (POMGNT1)
ENST00000693218.1:c.*203C= (POMGNT1) ENSP00000510577.1:n.*203C=
ENST00000693223.1:n.2590C= (POMGNT1)
ENST00000693365.1:n.5791C= (POMGNT1)
ENST00000371984.8:c.1642C= (POMGNT1) MANE Select ENSP00000361052.3:p.Leu548=
ENST00000371984.7:c.1642C= (POMGNT1) ENSP00000361052.3:p.Leu548=
ENST00000371992.1:c.1642C= (POMGNT1) ENSP00000361060.1:p.Leu548=
ENST00000396420.7:c.*1311C= (POMGNT1) ENSP00000379698.3:n.*1311C=
ENST00000480972.1:n.291C= (POMGNT1)
ENST00000485714.1:n.2543C= (POMGNT1)
NM_001243766.1:c.1642C= (POMGNT1) NP_001230695.1:p.Leu548=
NM_001290129.1:c.1576C= (POMGNT1) NP_001277058.1:p.Leu526=
NM_001290130.1:c.1213C= (POMGNT1) NP_001277059.1:p.Leu405=
NM_017739.3:c.1642C= (POMGNT1) NP_060209.3:p.Leu548=
XM_005271010.1:c.1642C= (POMGNT1) XP_005271067.1:p.Leu548=
XM_006710755.1:c.1642C= (POMGNT1) XP_006710818.1:p.Leu548=
XM_006710756.1:c.1642C= (POMGNT1) XP_006710819.1:p.Leu548=
XM_011540460.1:c.678+5172G= (TSPAN1) XP_011538762.1:n.678+5172G=
XM_011540461.1:c.633+5172G= (TSPAN1) XP_011538763.1:n.633+5172G=
XM_011541759.1:c.1576C= (POMGNT1) XP_011540061.1:p.Leu526=
XM_011541760.1:c.1576C= (POMGNT1) XP_011540062.1:p.Leu526=
XM_011541761.1:c.550C= (POMGNT1) XP_011540063.1:p.Leu184=
XM_011540460.3:c.678+5172G= (TSPAN1) XP_011538762.1:n.678+5172G=
XM_011541760.3:c.1576C= (POMGNT1) XP_011540062.1:p.Leu526=
XM_017001690.1:c.1642C= (POMGNT1) XP_016857179.1:p.Leu548=
NM_001243766.2:c.1642C= (POMGNT1) NP_001230695.2:p.Leu548=
NM_001290129.2:c.1576C= (POMGNT1) NP_001277058.2:p.Leu526=
NM_001290130.2:c.1213C= (POMGNT1) NP_001277059.2:p.Leu405=
NM_017739.4:c.1642C= (POMGNT1) MANE Select NP_060209.4:p.Leu548=