Canonical Allele Identifier: CA1144011143
Gene: POMGNT1 HGNC NCBI
TSPAN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.46189962C= , CM000663.2:g.46189962C= GRCh38
NC_000001.10:g.46655634C= , CM000663.1:g.46655634C= GRCh37
NC_000001.9:g.46428221C= NCBI36
NG_009205.2:g.35344G=
NG_009205.3:g.35344G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000396420.8:c.1677G= (POMGNT1) ENSP00000379698.4:p.Lys559=
ENST00000497439.6:n.1849G= (POMGNT1)
ENST00000684817.1:n.2037G= (POMGNT1)
ENST00000684898.1:n.2239G= (POMGNT1)
ENST00000685230.1:c.*987G= (POMGNT1) ENSP00000510305.1:n.*987G=
ENST00000685275.1:n.2224G= (POMGNT1)
ENST00000685444.1:c.1578G= (POMGNT1) ENSP00000510762.1:p.Lys526=
ENST00000685704.1:n.2343G= (POMGNT1)
ENST00000685833.1:n.4070G= (POMGNT1)
ENST00000686252.1:n.2751G= (POMGNT1)
ENST00000686379.1:c.*801G= (POMGNT1) ENSP00000508913.1:n.*801G=
ENST00000686724.1:n.3364G= (POMGNT1)
ENST00000686737.1:c.1677G= (POMGNT1) ENSP00000508736.1:p.Lys559=
ENST00000687112.1:n.2543G= (POMGNT1)
ENST00000687149.1:c.1716G= (POMGNT1) ENSP00000509745.1:p.Lys572=
ENST00000687197.1:c.*617G= (POMGNT1) ENSP00000510749.1:n.*617G=
ENST00000687235.1:n.3754G= (POMGNT1)
ENST00000687613.1:n.2317G= (POMGNT1)
ENST00000687683.1:c.1677G= (POMGNT1) ENSP00000508522.1:p.Lys559=
ENST00000688032.1:n.2214G= (POMGNT1)
ENST00000688596.1:n.2328G= (POMGNT1)
ENST00000688608.1:c.1578G= (POMGNT1) ENSP00000508890.1:p.Lys526=
ENST00000689031.1:n.2129G= (POMGNT1)
ENST00000689756.1:c.*1309G= (POMGNT1) ENSP00000509023.1:n.*1309G=
ENST00000690377.1:n.2024G= (POMGNT1)
ENST00000690678.1:c.1677G= (POMGNT1) ENSP00000508703.1:p.Lys559=
ENST00000691209.1:c.*617G= (POMGNT1) ENSP00000510112.1:n.*617G=
ENST00000691243.1:c.*68G= (POMGNT1) ENSP00000510654.1:n.*68G=
ENST00000692202.1:n.2252G= (POMGNT1)
ENST00000692322.1:c.*1464G= (POMGNT1) ENSP00000509017.1:n.*1464G=
ENST00000692369.1:c.1677G= (POMGNT1) ENSP00000508453.1:p.Lys559=
ENST00000692599.1:n.3552G= (POMGNT1)
ENST00000692635.1:c.*552G= (POMGNT1) ENSP00000508425.1:n.*552G=
ENST00000693168.1:n.3453G= (POMGNT1)
ENST00000693218.1:c.*238G= (POMGNT1) ENSP00000510577.1:n.*238G=
ENST00000693223.1:n.2625G= (POMGNT1)
ENST00000371984.8:c.1677G= (POMGNT1) MANE Select ENSP00000361052.3:p.Lys559=
ENST00000371984.7:c.1677G= (POMGNT1) ENSP00000361052.3:p.Lys559=
ENST00000371992.1:c.1677G= (POMGNT1) ENSP00000361060.1:p.Lys559=
ENST00000396420.7:c.*1346G= (POMGNT1) ENSP00000379698.3:n.*1346G=
ENST00000480972.1:n.326G= (POMGNT1)
NM_001243766.1:c.1677G= (POMGNT1) NP_001230695.1:p.Lys559=
NM_001290129.1:c.1611G= (POMGNT1) NP_001277058.1:p.Lys537=
NM_001290130.1:c.1248G= (POMGNT1) NP_001277059.1:p.Lys416=
NM_017739.3:c.1677G= (POMGNT1) NP_060209.3:p.Lys559=
XM_005271010.1:c.1677G= (POMGNT1) XP_005271067.1:p.Lys559=
XM_006710755.1:c.1677G= (POMGNT1) XP_006710818.1:p.Lys559=
XM_006710756.1:c.1677G= (POMGNT1) XP_006710819.1:p.Lys559=
XM_011540460.1:c.678+4654C= (TSPAN1) XP_011538762.1:n.678+4654C=
XM_011540461.1:c.633+4654C= (TSPAN1) XP_011538763.1:n.633+4654C=
XM_011541759.1:c.1611G= (POMGNT1) XP_011540061.1:p.Lys537=
XM_011541760.1:c.1611G= (POMGNT1) XP_011540062.1:p.Lys537=
XM_011541761.1:c.585G= (POMGNT1) XP_011540063.1:p.Lys195=
XM_011540460.3:c.678+4654C= (TSPAN1) XP_011538762.1:n.678+4654C=
XM_011541760.3:c.1611G= (POMGNT1) XP_011540062.1:p.Lys537=
XM_017001690.1:c.1677G= (POMGNT1) XP_016857179.1:p.Lys559=
NM_001243766.2:c.1677G= (POMGNT1) NP_001230695.2:p.Lys559=
NM_001290129.2:c.1611G= (POMGNT1) NP_001277058.2:p.Lys537=
NM_001290130.2:c.1248G= (POMGNT1) NP_001277059.2:p.Lys416=
NM_017739.4:c.1677G= (POMGNT1) MANE Select NP_060209.4:p.Lys559=