Canonical Allele Identifier: CA340171615
Gene: POMGNT1 HGNC NCBI
TSPAN1 HGNC NCBI

Linked Data

gnomAD v4: 1-46189976-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.46189976G>T , CM000663.2:g.46189976G>T GRCh38
NC_000001.10:g.46655648G>T , CM000663.1:g.46655648G>T GRCh37
NC_000001.9:g.46428235G>T NCBI36
NG_009205.2:g.35330C>A
NG_009205.3:g.35330C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000396420.8:c.1663C>A (POMGNT1) ENSP00000379698.4:p.Leu555Met
ENST00000497439.6:n.1835C>A (POMGNT1)
ENST00000684817.1:n.2023C>A (POMGNT1)
ENST00000684898.1:n.2225C>A (POMGNT1)
ENST00000685230.1:c.*973C>A (POMGNT1) ENSP00000510305.1:n.*973C>A
ENST00000685275.1:n.2210C>A (POMGNT1)
ENST00000685444.1:c.1564C>A (POMGNT1) ENSP00000510762.1:p.Leu522Met
ENST00000685704.1:n.2329C>A (POMGNT1)
ENST00000685833.1:n.4056C>A (POMGNT1)
ENST00000686252.1:n.2737C>A (POMGNT1)
ENST00000686379.1:c.*787C>A (POMGNT1) ENSP00000508913.1:n.*787C>A
ENST00000686724.1:n.3350C>A (POMGNT1)
ENST00000686737.1:c.1663C>A (POMGNT1) ENSP00000508736.1:p.Leu555Met
ENST00000687112.1:n.2529C>A (POMGNT1)
ENST00000687149.1:c.1702C>A (POMGNT1) ENSP00000509745.1:p.Leu568Met
ENST00000687197.1:c.*603C>A (POMGNT1) ENSP00000510749.1:n.*603C>A
ENST00000687235.1:n.3740C>A (POMGNT1)
ENST00000687613.1:n.2303C>A (POMGNT1)
ENST00000687683.1:c.1663C>A (POMGNT1) ENSP00000508522.1:p.Leu555Met
ENST00000688032.1:n.2200C>A (POMGNT1)
ENST00000688596.1:n.2314C>A (POMGNT1)
ENST00000688608.1:c.1564C>A (POMGNT1) ENSP00000508890.1:p.Leu522Met
ENST00000689031.1:n.2115C>A (POMGNT1)
ENST00000689756.1:c.*1295C>A (POMGNT1) ENSP00000509023.1:n.*1295C>A
ENST00000690377.1:n.2010C>A (POMGNT1)
ENST00000690678.1:c.1663C>A (POMGNT1) ENSP00000508703.1:p.Leu555Met
ENST00000691209.1:c.*603C>A (POMGNT1) ENSP00000510112.1:n.*603C>A
ENST00000691243.1:c.*54C>A (POMGNT1) ENSP00000510654.1:n.*54C>A
ENST00000692202.1:n.2238C>A (POMGNT1)
ENST00000692322.1:c.*1450C>A (POMGNT1) ENSP00000509017.1:n.*1450C>A
ENST00000692369.1:c.1663C>A (POMGNT1) ENSP00000508453.1:p.Leu555Met
ENST00000692599.1:n.3538C>A (POMGNT1)
ENST00000692635.1:c.*538C>A (POMGNT1) ENSP00000508425.1:n.*538C>A
ENST00000693168.1:n.3439C>A (POMGNT1)
ENST00000693218.1:c.*224C>A (POMGNT1) ENSP00000510577.1:n.*224C>A
ENST00000693223.1:n.2611C>A (POMGNT1)
ENST00000371984.8:c.1663C>A (POMGNT1) MANE Select ENSP00000361052.3:p.Leu555Met
ENST00000371984.7:c.1663C>A (POMGNT1) ENSP00000361052.3:p.Leu555Met
ENST00000371992.1:c.1663C>A (POMGNT1) ENSP00000361060.1:p.Leu555Met
ENST00000396420.7:c.*1332C>A (POMGNT1) ENSP00000379698.3:n.*1332C>A
ENST00000480972.1:n.312C>A (POMGNT1)
NM_001243766.1:c.1663C>A (POMGNT1) NP_001230695.1:p.Leu555Met
NM_001290129.1:c.1597C>A (POMGNT1) NP_001277058.1:p.Leu533Met
NM_001290130.1:c.1234C>A (POMGNT1) NP_001277059.1:p.Leu412Met
NM_017739.3:c.1663C>A (POMGNT1) NP_060209.3:p.Leu555Met
XM_005271010.1:c.1663C>A (POMGNT1) XP_005271067.1:p.Leu555Met
XM_006710755.1:c.1663C>A (POMGNT1) XP_006710818.1:p.Leu555Met
XM_006710756.1:c.1663C>A (POMGNT1) XP_006710819.1:p.Leu555Met
XM_011540460.1:c.678+4668G>T (TSPAN1) XP_011538762.1:n.678+4668G>T
XM_011540461.1:c.633+4668G>T (TSPAN1) XP_011538763.1:n.633+4668G>T
XM_011541759.1:c.1597C>A (POMGNT1) XP_011540061.1:p.Leu533Met
XM_011541760.1:c.1597C>A (POMGNT1) XP_011540062.1:p.Leu533Met
XM_011541761.1:c.571C>A (POMGNT1) XP_011540063.1:p.Leu191Met
XM_011540460.3:c.678+4668G>T (TSPAN1) XP_011538762.1:n.678+4668G>T
XM_011541760.3:c.1597C>A (POMGNT1) XP_011540062.1:p.Leu533Met
XM_017001690.1:c.1663C>A (POMGNT1) XP_016857179.1:p.Leu555Met
NM_001243766.2:c.1663C>A (POMGNT1) NP_001230695.2:p.Leu555Met
NM_001290129.2:c.1597C>A (POMGNT1) NP_001277058.2:p.Leu533Met
NM_001290130.2:c.1234C>A (POMGNT1) NP_001277059.2:p.Leu412Met
NM_017739.4:c.1663C>A (POMGNT1) MANE Select NP_060209.4:p.Leu555Met