Canonical Allele Identifier: CA833260
Community Standard Title: NM_017739.4(POMGNT1):c.1697T>C (p.Phe566Ser)
Gene: POMGNT1 HGNC NCBI
TSPAN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.46189942A>G , CM000663.2:g.46189942A>G GRCh38
NC_000001.10:g.46655614A>G , CM000663.1:g.46655614A>G GRCh37
NC_000001.9:g.46428201A>G NCBI36
NG_009205.2:g.35364T>C
NG_009205.3:g.35364T>C

Transcript Alleles

HGVS Amino-acid Change
NM_017739.4:c.1697T>C (POMGNT1) MANE Select NP_060209.4:p.Phe566Ser
ENST00000371984.8:c.1697T>C (POMGNT1) MANE Select ENSP00000361052.3:p.Phe566Ser
NM_001243766.1:c.1697T>C (POMGNT1) NP_001230695.1:p.Phe566Ser
NM_001243766.2:c.1697T>C (POMGNT1) NP_001230695.2:p.Phe566Ser
NM_001290129.1:c.1631T>C (POMGNT1) NP_001277058.1:p.Phe544Ser
NM_001290129.2:c.1631T>C (POMGNT1) NP_001277058.2:p.Phe544Ser
NM_001290130.1:c.1268T>C (POMGNT1) NP_001277059.1:p.Phe423Ser
NM_001290130.2:c.1268T>C (POMGNT1) NP_001277059.2:p.Phe423Ser
NM_017739.3:c.1697T>C (POMGNT1) NP_060209.3:p.Phe566Ser
ENST00000371984.7:c.1697T>C (POMGNT1) ENSP00000361052.3:p.Phe566Ser
ENST00000371992.1:c.1697T>C (POMGNT1) ENSP00000361060.1:p.Phe566Ser
ENST00000396420.7:c.*1366T>C (POMGNT1) ENSP00000379698.3:n.*1366T>C
ENST00000396420.8:c.1697T>C (POMGNT1) ENSP00000379698.4:p.Phe566Ser
ENST00000480972.1:n.346T>C (POMGNT1)
ENST00000497439.6:n.1869T>C (POMGNT1)
ENST00000684817.1:n.2057T>C (POMGNT1)
ENST00000684898.1:n.2259T>C (POMGNT1)
ENST00000685230.1:c.*1007T>C (POMGNT1) ENSP00000510305.1:n.*1007T>C
ENST00000685275.1:n.2244T>C (POMGNT1)
ENST00000685444.1:c.1598T>C (POMGNT1) ENSP00000510762.1:p.Phe533Ser
ENST00000685704.1:n.2363T>C (POMGNT1)
ENST00000685833.1:n.4090T>C (POMGNT1)
ENST00000686252.1:n.2771T>C (POMGNT1)
ENST00000686379.1:c.*821T>C (POMGNT1) ENSP00000508913.1:n.*821T>C
ENST00000686724.1:n.3384T>C (POMGNT1)
ENST00000686737.1:c.1697T>C (POMGNT1) ENSP00000508736.1:p.Phe566Ser
ENST00000687112.1:n.2563T>C (POMGNT1)
ENST00000687149.1:c.1736T>C (POMGNT1) ENSP00000509745.1:p.Phe579Ser
ENST00000687197.1:c.*637T>C (POMGNT1) ENSP00000510749.1:n.*637T>C
ENST00000687235.1:n.3774T>C (POMGNT1)
ENST00000687613.1:n.2337T>C (POMGNT1)
ENST00000687683.1:c.1697T>C (POMGNT1) ENSP00000508522.1:p.Phe566Ser
ENST00000688032.1:n.2234T>C (POMGNT1)
ENST00000688596.1:n.2348T>C (POMGNT1)
ENST00000688608.1:c.1598T>C (POMGNT1) ENSP00000508890.1:p.Phe533Ser
ENST00000689031.1:n.2149T>C (POMGNT1)
ENST00000689756.1:c.*1329T>C (POMGNT1) ENSP00000509023.1:n.*1329T>C
ENST00000690377.1:n.2044T>C (POMGNT1)
ENST00000690678.1:c.1697T>C (POMGNT1) ENSP00000508703.1:p.Phe566Ser
ENST00000691209.1:c.*637T>C (POMGNT1) ENSP00000510112.1:n.*637T>C
ENST00000691243.1:c.*88T>C (POMGNT1) ENSP00000510654.1:n.*88T>C
ENST00000692202.1:n.2272T>C (POMGNT1)
ENST00000692322.1:c.*1484T>C (POMGNT1) ENSP00000509017.1:n.*1484T>C
ENST00000692369.1:c.1697T>C (POMGNT1) ENSP00000508453.1:p.Phe566Ser
ENST00000692599.1:n.3572T>C (POMGNT1)
ENST00000692635.1:c.*572T>C (POMGNT1) ENSP00000508425.1:n.*572T>C
ENST00000693168.1:n.3473T>C (POMGNT1)
ENST00000693218.1:c.*258T>C (POMGNT1) ENSP00000510577.1:n.*258T>C
ENST00000693223.1:n.2645T>C (POMGNT1)
XM_005271010.1:c.1697T>C (POMGNT1) XP_005271067.1:p.Phe566Ser
XM_006710755.1:c.1697T>C (POMGNT1) XP_006710818.1:p.Phe566Ser
XM_006710756.1:c.1697T>C (POMGNT1) XP_006710819.1:p.Phe566Ser
XM_011540460.1:c.678+4634A>G (TSPAN1) XP_011538762.1:n.678+4634A>G
XM_011540460.3:c.678+4634A>G (TSPAN1) XP_011538762.1:n.678+4634A>G
XM_011540461.1:c.633+4634A>G (TSPAN1) XP_011538763.1:n.633+4634A>G
XM_011541759.1:c.1631T>C (POMGNT1) XP_011540061.1:p.Phe544Ser
XM_011541760.1:c.1631T>C (POMGNT1) XP_011540062.1:p.Phe544Ser
XM_011541760.3:c.1631T>C (POMGNT1) XP_011540062.1:p.Phe544Ser
XM_011541761.1:c.605T>C (POMGNT1) XP_011540063.1:p.Phe202Ser
XM_017001690.1:c.1697T>C (POMGNT1) XP_016857179.1:p.Phe566Ser