Canonical Allele Identifier: CA833645
Community Standard Title: NM_017739.4(POMGNT1):c.663C>T (p.Phe221=)
Gene: POMGNT1 HGNC NCBI
TSPAN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.46194641G>A , CM000663.2:g.46194641G>A GRCh38
NC_000001.10:g.46660313G>A , CM000663.1:g.46660313G>A GRCh37
NC_000001.9:g.46432900G>A NCBI36
NG_009205.2:g.30665C>T
NG_009205.3:g.30665C>T

Transcript Alleles

HGVS Amino-acid Change
NM_017739.4:c.663C>T (POMGNT1) MANE Select NP_060209.4:p.Phe221=
ENST00000371984.8:c.663C>T (POMGNT1) MANE Select ENSP00000361052.3:p.Phe221=
NM_001243766.1:c.663C>T (POMGNT1) NP_001230695.1:p.Phe221=
NM_001243766.2:c.663C>T (POMGNT1) NP_001230695.2:p.Phe221=
NM_001290129.1:c.597C>T (POMGNT1) NP_001277058.1:p.Phe199=
NM_001290129.2:c.597C>T (POMGNT1) NP_001277058.2:p.Phe199=
NM_001290130.1:c.234C>T (POMGNT1) NP_001277059.1:p.Phe78=
NM_001290130.2:c.234C>T (POMGNT1) NP_001277059.2:p.Phe78=
NM_017739.3:c.663C>T (POMGNT1) NP_060209.3:p.Phe221=
ENST00000371984.7:c.663C>T (POMGNT1) ENSP00000361052.3:p.Phe221=
ENST00000371992.1:c.663C>T (POMGNT1) ENSP00000361060.1:p.Phe221=
ENST00000396420.7:c.545C>T (POMGNT1) ENSP00000379698.3:p.Ser182Leu
ENST00000396420.8:c.663C>T (POMGNT1) ENSP00000379698.4:p.Phe221=
ENST00000477114.1:n.11C>T (POMGNT1)
ENST00000477114.2:n.835C>T (POMGNT1)
ENST00000497439.5:n.787C>T (POMGNT1)
ENST00000497439.6:n.835C>T (POMGNT1)
ENST00000684817.1:n.1023C>T (POMGNT1)
ENST00000684898.1:n.835C>T (POMGNT1)
ENST00000685230.1:c.545C>T (POMGNT1) ENSP00000510305.1:p.Ser182Leu
ENST00000685275.1:n.820C>T (POMGNT1)
ENST00000685444.1:c.652+203C>T (POMGNT1) ENSP00000510762.1:n.652+203C>T
ENST00000685704.1:n.835C>T (POMGNT1)
ENST00000685775.1:n.1800C>T (POMGNT1)
ENST00000685833.1:n.1000C>T (POMGNT1)
ENST00000686252.1:n.1737C>T (POMGNT1)
ENST00000686379.1:c.663C>T (POMGNT1) ENSP00000508913.1:p.Phe221=
ENST00000686724.1:n.835C>T (POMGNT1)
ENST00000686737.1:c.663C>T (POMGNT1) ENSP00000508736.1:p.Phe221=
ENST00000687112.1:n.835C>T (POMGNT1)
ENST00000687149.1:c.663C>T (POMGNT1) ENSP00000509745.1:p.Phe221=
ENST00000687197.1:c.663C>T (POMGNT1) ENSP00000510749.1:p.Phe221=
ENST00000687235.1:n.835C>T (POMGNT1)
ENST00000687613.1:n.1023C>T (POMGNT1)
ENST00000687683.1:c.663C>T (POMGNT1) ENSP00000508522.1:p.Phe221=
ENST00000688032.1:n.835C>T (POMGNT1)
ENST00000688596.1:n.835C>T (POMGNT1)
ENST00000688608.1:c.652+203C>T (POMGNT1) ENSP00000508890.1:n.652+203C>T
ENST00000688919.1:n.1469C>T (POMGNT1)
ENST00000689031.1:n.835C>T (POMGNT1)
ENST00000689717.1:n.835C>T (POMGNT1)
ENST00000689756.1:c.*295C>T (POMGNT1) ENSP00000509023.1:n.*295C>T
ENST00000690377.1:n.835C>T (POMGNT1)
ENST00000690678.1:c.663C>T (POMGNT1) ENSP00000508703.1:p.Phe221=
ENST00000691209.1:c.663C>T (POMGNT1) ENSP00000510112.1:p.Phe221=
ENST00000691243.1:c.663C>T (POMGNT1) ENSP00000510654.1:p.Phe221=
ENST00000692169.1:n.835C>T (POMGNT1)
ENST00000692202.1:n.1023C>T (POMGNT1)
ENST00000692322.1:c.*515C>T (POMGNT1) ENSP00000509017.1:n.*515C>T
ENST00000692369.1:c.663C>T (POMGNT1) ENSP00000508453.1:p.Phe221=
ENST00000692599.1:n.835C>T (POMGNT1)
ENST00000692635.1:c.663C>T (POMGNT1) ENSP00000508425.1:p.Phe221=
ENST00000693168.1:n.835C>T (POMGNT1)
ENST00000693218.1:c.663C>T (POMGNT1) ENSP00000510577.1:p.Phe221=
ENST00000693223.1:n.1307C>T (POMGNT1)
ENST00000693365.1:n.2603C>T (POMGNT1)
XM_005271010.1:c.663C>T (POMGNT1) XP_005271067.1:p.Phe221=
XM_006710755.1:c.663C>T (POMGNT1) XP_006710818.1:p.Phe221=
XM_006710756.1:c.663C>T (POMGNT1) XP_006710819.1:p.Phe221=
XM_011540460.1:c.679-1561G>A (TSPAN1) XP_011538762.1:n.679-1561G>A
XM_011540460.3:c.679-1561G>A (TSPAN1) XP_011538762.1:n.679-1561G>A
XM_011540461.1:c.634-1561G>A (TSPAN1) XP_011538763.1:n.634-1561G>A
XM_011541759.1:c.597C>T (POMGNT1) XP_011540061.1:p.Phe199=
XM_011541760.1:c.597C>T (POMGNT1) XP_011540062.1:p.Phe199=
XM_011541760.3:c.597C>T (POMGNT1) XP_011540062.1:p.Phe199=
XM_017001690.1:c.663C>T (POMGNT1) XP_016857179.1:p.Phe221=
XR_946706.1:n.822C>T (POMGNT1)