Canonical Allele Identifier: CA2474081407
Gene: POMGNT1 HGNC NCBI
TSPAN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.46190512T= , CM000663.2:g.46190512T= GRCh38
NC_000001.10:g.46656184T= , CM000663.1:g.46656184T= GRCh37
NC_000001.9:g.46428771T= NCBI36
NG_009205.2:g.34794A=
NG_009205.3:g.34794A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000396420.8:c.1610A= (POMGNT1) ENSP00000379698.4:p.Lys537=
ENST00000477114.2:n.2172A= (POMGNT1)
ENST00000497439.6:n.1782A= (POMGNT1)
ENST00000684817.1:n.1970A= (POMGNT1)
ENST00000684898.1:n.2172A= (POMGNT1)
ENST00000685230.1:c.*920A= (POMGNT1) ENSP00000510305.1:n.*920A=
ENST00000685275.1:n.2157A= (POMGNT1)
ENST00000685444.1:c.1511A= (POMGNT1) ENSP00000510762.1:p.Lys504=
ENST00000685704.1:n.2276A= (POMGNT1)
ENST00000685775.1:n.4652A= (POMGNT1)
ENST00000685833.1:n.4003A= (POMGNT1)
ENST00000686252.1:n.2684A= (POMGNT1)
ENST00000686379.1:c.*734A= (POMGNT1) ENSP00000508913.1:n.*734A=
ENST00000686724.1:n.3297A= (POMGNT1)
ENST00000686737.1:c.1610A= (POMGNT1) ENSP00000508736.1:p.Lys537=
ENST00000687112.1:n.2476A= (POMGNT1)
ENST00000687149.1:c.1649A= (POMGNT1) ENSP00000509745.1:p.Lys550=
ENST00000687197.1:c.*550A= (POMGNT1) ENSP00000510749.1:n.*550A=
ENST00000687235.1:n.3687A= (POMGNT1)
ENST00000687613.1:n.2290-523A= (POMGNT1)
ENST00000687683.1:c.1610A= (POMGNT1) ENSP00000508522.1:p.Lys537=
ENST00000688032.1:n.2147A= (POMGNT1)
ENST00000688596.1:n.2261A= (POMGNT1)
ENST00000688608.1:c.1511A= (POMGNT1) ENSP00000508890.1:p.Lys504=
ENST00000688919.1:n.3008A= (POMGNT1)
ENST00000689031.1:n.2102-523A= (POMGNT1)
ENST00000689717.1:n.1984A= (POMGNT1)
ENST00000689756.1:c.*1242A= (POMGNT1) ENSP00000509023.1:n.*1242A=
ENST00000690377.1:n.1957A= (POMGNT1)
ENST00000690678.1:c.1610A= (POMGNT1) ENSP00000508703.1:p.Lys537=
ENST00000691209.1:c.*550A= (POMGNT1) ENSP00000510112.1:n.*550A=
ENST00000691243.1:c.*1A= (POMGNT1) ENSP00000510654.1:n.*1A=
ENST00000692169.1:n.3274A= (POMGNT1)
ENST00000692202.1:n.2185A= (POMGNT1)
ENST00000692322.1:c.*1397A= (POMGNT1) ENSP00000509017.1:n.*1397A=
ENST00000692369.1:c.1610A= (POMGNT1) ENSP00000508453.1:p.Lys537=
ENST00000692599.1:n.3485A= (POMGNT1)
ENST00000692635.1:c.*485A= (POMGNT1) ENSP00000508425.1:n.*485A=
ENST00000693168.1:n.3386A= (POMGNT1)
ENST00000693218.1:c.*171A= (POMGNT1) ENSP00000510577.1:n.*171A=
ENST00000693223.1:n.2558A= (POMGNT1)
ENST00000693365.1:n.5759A= (POMGNT1)
ENST00000371984.8:c.1610A= (POMGNT1) MANE Select ENSP00000361052.3:p.Lys537=
ENST00000371984.7:c.1610A= (POMGNT1) ENSP00000361052.3:p.Lys537=
ENST00000371992.1:c.1610A= (POMGNT1) ENSP00000361060.1:p.Lys537=
ENST00000396420.7:c.*1279A= (POMGNT1) ENSP00000379698.3:n.*1279A=
ENST00000480972.1:n.259A= (POMGNT1)
ENST00000485714.1:n.2511A= (POMGNT1)
NM_001243766.1:c.1610A= (POMGNT1) NP_001230695.1:p.Lys537=
NM_001290129.1:c.1544A= (POMGNT1) NP_001277058.1:p.Lys515=
NM_001290130.1:c.1181A= (POMGNT1) NP_001277059.1:p.Lys394=
NM_017739.3:c.1610A= (POMGNT1) NP_060209.3:p.Lys537=
XM_005271010.1:c.1610A= (POMGNT1) XP_005271067.1:p.Lys537=
XM_006710755.1:c.1610A= (POMGNT1) XP_006710818.1:p.Lys537=
XM_006710756.1:c.1610A= (POMGNT1) XP_006710819.1:p.Lys537=
XM_011540460.1:c.678+5204T= (TSPAN1) XP_011538762.1:n.678+5204T=
XM_011540461.1:c.633+5204T= (TSPAN1) XP_011538763.1:n.633+5204T=
XM_011541759.1:c.1544A= (POMGNT1) XP_011540061.1:p.Lys515=
XM_011541760.1:c.1544A= (POMGNT1) XP_011540062.1:p.Lys515=
XM_011541761.1:c.518A= (POMGNT1) XP_011540063.1:p.Lys173=
XM_011540460.3:c.678+5204T= (TSPAN1) XP_011538762.1:n.678+5204T=
XM_011541760.3:c.1544A= (POMGNT1) XP_011540062.1:p.Lys515=
XM_017001690.1:c.1610A= (POMGNT1) XP_016857179.1:p.Lys537=
NM_001243766.2:c.1610A= (POMGNT1) NP_001230695.2:p.Lys537=
NM_001290129.2:c.1544A= (POMGNT1) NP_001277058.2:p.Lys515=
NM_001290130.2:c.1181A= (POMGNT1) NP_001277059.2:p.Lys394=
NM_017739.4:c.1610A= (POMGNT1) MANE Select NP_060209.4:p.Lys537=