Canonical Allele Identifier: CA2474081413
Gene: POMGNT1 HGNC NCBI
TSPAN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.46190530G= , CM000663.2:g.46190530G= GRCh38
NC_000001.10:g.46656202G= , CM000663.1:g.46656202G= GRCh37
NC_000001.9:g.46428789G= NCBI36
NG_009205.2:g.34776C=
NG_009205.3:g.34776C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000396420.8:c.1605-13C= (POMGNT1) ENSP00000379698.4:n.1605-13C=
ENST00000477114.2:n.2167-13C= (POMGNT1)
ENST00000497439.6:n.1777-13C= (POMGNT1)
ENST00000684817.1:n.1965-13C= (POMGNT1)
ENST00000684898.1:n.2167-13C= (POMGNT1)
ENST00000685230.1:c.*915-13C= (POMGNT1) ENSP00000510305.1:n.*915-13C=
ENST00000685275.1:n.2152-13C= (POMGNT1)
ENST00000685444.1:c.1506-13C= (POMGNT1) ENSP00000510762.1:n.1506-13C=
ENST00000685704.1:n.2258C= (POMGNT1)
ENST00000685775.1:n.4634C= (POMGNT1)
ENST00000685833.1:n.3985C= (POMGNT1)
ENST00000686252.1:n.2679-13C= (POMGNT1)
ENST00000686379.1:c.*729-13C= (POMGNT1) ENSP00000508913.1:n.*729-13C=
ENST00000686724.1:n.3279C= (POMGNT1)
ENST00000686737.1:c.1605-13C= (POMGNT1) ENSP00000508736.1:n.1605-13C=
ENST00000687112.1:n.2471-13C= (POMGNT1)
ENST00000687149.1:c.1631C= (POMGNT1) ENSP00000509745.1:p.Ser544=
ENST00000687197.1:c.*545-13C= (POMGNT1) ENSP00000510749.1:n.*545-13C=
ENST00000687235.1:n.3669C= (POMGNT1)
ENST00000687613.1:n.2290-541C= (POMGNT1)
ENST00000687683.1:c.1605-13C= (POMGNT1) ENSP00000508522.1:n.1605-13C=
ENST00000688032.1:n.2142-13C= (POMGNT1)
ENST00000688596.1:n.2256-13C= (POMGNT1)
ENST00000688608.1:c.1506-13C= (POMGNT1) ENSP00000508890.1:n.1506-13C=
ENST00000688919.1:n.2990C= (POMGNT1)
ENST00000689031.1:n.2102-541C= (POMGNT1)
ENST00000689717.1:n.1966C= (POMGNT1)
ENST00000689756.1:c.*1237-13C= (POMGNT1) ENSP00000509023.1:n.*1237-13C=
ENST00000690377.1:n.1952-13C= (POMGNT1)
ENST00000690678.1:c.1605-13C= (POMGNT1) ENSP00000508703.1:n.1605-13C=
ENST00000691209.1:c.*545-13C= (POMGNT1) ENSP00000510112.1:n.*545-13C=
ENST00000691243.1:c.1580-13C= (POMGNT1) ENSP00000510654.1:n.1580-13C=
ENST00000692169.1:n.3256C= (POMGNT1)
ENST00000692202.1:n.2180-13C= (POMGNT1)
ENST00000692322.1:c.*1392-13C= (POMGNT1) ENSP00000509017.1:n.*1392-13C=
ENST00000692369.1:c.1605-13C= (POMGNT1) ENSP00000508453.1:n.1605-13C=
ENST00000692599.1:n.3480-13C= (POMGNT1)
ENST00000692635.1:c.*480-13C= (POMGNT1) ENSP00000508425.1:n.*480-13C=
ENST00000693168.1:n.3368C= (POMGNT1)
ENST00000693218.1:c.*153C= (POMGNT1) ENSP00000510577.1:n.*153C=
ENST00000693223.1:n.2553-13C= (POMGNT1)
ENST00000693365.1:n.5741C= (POMGNT1)
ENST00000371984.8:c.1605-13C= (POMGNT1) MANE Select ENSP00000361052.3:n.1605-13C=
ENST00000371984.7:c.1605-13C= (POMGNT1) ENSP00000361052.3:n.1605-13C=
ENST00000371992.1:c.1605-13C= (POMGNT1) ENSP00000361060.1:n.1605-13C=
ENST00000396420.7:c.*1274-13C= (POMGNT1) ENSP00000379698.3:n.*1274-13C=
ENST00000480972.1:n.254-13C= (POMGNT1)
ENST00000485714.1:n.2493C= (POMGNT1)
NM_001243766.1:c.1605-13C= (POMGNT1) NP_001230695.1:n.1605-13C=
NM_001290129.1:c.1539-13C= (POMGNT1) NP_001277058.1:n.1539-13C=
NM_001290130.1:c.1176-13C= (POMGNT1) NP_001277059.1:n.1176-13C=
NM_017739.3:c.1605-13C= (POMGNT1) NP_060209.3:n.1605-13C=
XM_005271010.1:c.1605-13C= (POMGNT1) XP_005271067.1:n.1605-13C=
XM_006710755.1:c.1605-13C= (POMGNT1) XP_006710818.1:n.1605-13C=
XM_006710756.1:c.1605-13C= (POMGNT1) XP_006710819.1:n.1605-13C=
XM_011540460.1:c.678+5222G= (TSPAN1) XP_011538762.1:n.678+5222G=
XM_011540461.1:c.633+5222G= (TSPAN1) XP_011538763.1:n.633+5222G=
XM_011541759.1:c.1539-13C= (POMGNT1) XP_011540061.1:n.1539-13C=
XM_011541760.1:c.1539-13C= (POMGNT1) XP_011540062.1:n.1539-13C=
XM_011541761.1:c.513-13C= (POMGNT1) XP_011540063.1:n.513-13C=
XM_011540460.3:c.678+5222G= (TSPAN1) XP_011538762.1:n.678+5222G=
XM_011541760.3:c.1539-13C= (POMGNT1) XP_011540062.1:n.1539-13C=
XM_017001690.1:c.1605-13C= (POMGNT1) XP_016857179.1:n.1605-13C=
NM_001243766.2:c.1605-13C= (POMGNT1) NP_001230695.2:n.1605-13C=
NM_001290129.2:c.1539-13C= (POMGNT1) NP_001277058.2:n.1539-13C=
NM_001290130.2:c.1176-13C= (POMGNT1) NP_001277059.2:n.1176-13C=
NM_017739.4:c.1605-13C= (POMGNT1) MANE Select NP_060209.4:n.1605-13C=