Canonical Allele Identifier: CA2474081133
Gene: POMGNT1 HGNC NCBI
TSPAN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.46189864T= , CM000663.2:g.46189864T= GRCh38
NC_000001.10:g.46655536T= , CM000663.1:g.46655536T= GRCh37
NC_000001.9:g.46428123T= NCBI36
NG_009205.2:g.35442A=
NG_009205.3:g.35442A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000396420.8:c.1775A= (POMGNT1) ENSP00000379698.4:p.Gln592=
ENST00000497439.6:n.1947A= (POMGNT1)
ENST00000684817.1:n.2135A= (POMGNT1)
ENST00000684898.1:n.2337A= (POMGNT1)
ENST00000685230.1:c.*1085A= (POMGNT1) ENSP00000510305.1:n.*1085A=
ENST00000685275.1:n.2322A= (POMGNT1)
ENST00000685444.1:c.1676A= (POMGNT1) ENSP00000510762.1:p.Gln559=
ENST00000685704.1:n.2441A= (POMGNT1)
ENST00000685833.1:n.4168A= (POMGNT1)
ENST00000686252.1:n.2849A= (POMGNT1)
ENST00000686379.1:c.*899A= (POMGNT1) ENSP00000508913.1:n.*899A=
ENST00000686724.1:n.3462A= (POMGNT1)
ENST00000686737.1:c.1775A= (POMGNT1) ENSP00000508736.1:p.Gln592=
ENST00000687112.1:n.2641A= (POMGNT1)
ENST00000687149.1:c.1814A= (POMGNT1) ENSP00000509745.1:p.Gln605=
ENST00000687197.1:c.*715A= (POMGNT1) ENSP00000510749.1:n.*715A=
ENST00000687235.1:n.3852A= (POMGNT1)
ENST00000687613.1:n.2415A= (POMGNT1)
ENST00000687683.1:c.1775A= (POMGNT1) ENSP00000508522.1:p.Gln592=
ENST00000688032.1:n.2312A= (POMGNT1)
ENST00000688596.1:n.2426A= (POMGNT1)
ENST00000688608.1:c.1676A= (POMGNT1) ENSP00000508890.1:p.Gln559=
ENST00000689031.1:n.2227A= (POMGNT1)
ENST00000689756.1:c.*1407A= (POMGNT1) ENSP00000509023.1:n.*1407A=
ENST00000690377.1:n.2122A= (POMGNT1)
ENST00000690678.1:c.1775A= (POMGNT1) ENSP00000508703.1:p.Gln592=
ENST00000691209.1:c.*715A= (POMGNT1) ENSP00000510112.1:n.*715A=
ENST00000691243.1:c.*166A= (POMGNT1) ENSP00000510654.1:n.*166A=
ENST00000692202.1:n.2350A= (POMGNT1)
ENST00000692322.1:c.*1562A= (POMGNT1) ENSP00000509017.1:n.*1562A=
ENST00000692369.1:c.1775A= (POMGNT1) ENSP00000508453.1:p.Gln592=
ENST00000692599.1:n.3650A= (POMGNT1)
ENST00000692635.1:c.*650A= (POMGNT1) ENSP00000508425.1:n.*650A=
ENST00000693168.1:n.3551A= (POMGNT1)
ENST00000693218.1:c.*336A= (POMGNT1) ENSP00000510577.1:n.*336A=
ENST00000693223.1:n.2723A= (POMGNT1)
ENST00000371984.8:c.1775A= (POMGNT1) MANE Select ENSP00000361052.3:p.Gln592=
ENST00000371984.7:c.1775A= (POMGNT1) ENSP00000361052.3:p.Gln592=
ENST00000371992.1:c.1775A= (POMGNT1) ENSP00000361060.1:p.Gln592=
ENST00000396420.7:c.*1444A= (POMGNT1) ENSP00000379698.3:n.*1444A=
ENST00000480972.1:n.424A= (POMGNT1)
NM_001243766.1:c.1775A= (POMGNT1) NP_001230695.1:p.Gln592=
NM_001290129.1:c.1709A= (POMGNT1) NP_001277058.1:p.Gln570=
NM_001290130.1:c.1346A= (POMGNT1) NP_001277059.1:p.Gln449=
NM_017739.3:c.1775A= (POMGNT1) NP_060209.3:p.Gln592=
XM_005271010.1:c.1775A= (POMGNT1) XP_005271067.1:p.Gln592=
XM_006710755.1:c.1775A= (POMGNT1) XP_006710818.1:p.Gln592=
XM_006710756.1:c.1775A= (POMGNT1) XP_006710819.1:p.Gln592=
XM_011540460.1:c.678+4556T= (TSPAN1) XP_011538762.1:n.678+4556T=
XM_011540461.1:c.633+4556T= (TSPAN1) XP_011538763.1:n.633+4556T=
XM_011541759.1:c.1709A= (POMGNT1) XP_011540061.1:p.Gln570=
XM_011541760.1:c.1709A= (POMGNT1) XP_011540062.1:p.Gln570=
XM_011541761.1:c.683A= (POMGNT1) XP_011540063.1:p.Gln228=
XM_011540460.3:c.678+4556T= (TSPAN1) XP_011538762.1:n.678+4556T=
XM_011541760.3:c.1709A= (POMGNT1) XP_011540062.1:p.Gln570=
XM_017001690.1:c.1775A= (POMGNT1) XP_016857179.1:p.Gln592=
NM_001243766.2:c.1775A= (POMGNT1) NP_001230695.2:p.Gln592=
NM_001290129.2:c.1709A= (POMGNT1) NP_001277058.2:p.Gln570=
NM_001290130.2:c.1346A= (POMGNT1) NP_001277059.2:p.Gln449=
NM_017739.4:c.1775A= (POMGNT1) MANE Select NP_060209.4:p.Gln592=