Canonical Allele Identifier: CA833500
Community Standard Title: NM_017739.4(POMGNT1):c.1100G>A (p.Arg367His)
Gene: POMGNT1 HGNC NCBI
TSPAN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.46193315C>T , CM000663.2:g.46193315C>T GRCh38
NC_000001.10:g.46658987C>T , CM000663.1:g.46658987C>T GRCh37
NC_000001.9:g.46431574C>T NCBI36
NG_009205.2:g.31991G>A
NG_009205.3:g.31991G>A

Transcript Alleles

HGVS Amino-acid Change
NM_017739.4:c.1100G>A (POMGNT1) MANE Select NP_060209.4:p.Arg367His
ENST00000371984.8:c.1100G>A (POMGNT1) MANE Select ENSP00000361052.3:p.Arg367His
NM_001243766.1:c.1100G>A (POMGNT1) NP_001230695.1:p.Arg367His
NM_001243766.2:c.1100G>A (POMGNT1) NP_001230695.2:p.Arg367His
NM_001290129.1:c.1034G>A (POMGNT1) NP_001277058.1:p.Arg345His
NM_001290129.2:c.1034G>A (POMGNT1) NP_001277058.2:p.Arg345His
NM_001290130.1:c.671G>A (POMGNT1) NP_001277059.1:p.Arg224His
NM_001290130.2:c.671G>A (POMGNT1) NP_001277059.2:p.Arg224His
NM_017739.3:c.1100G>A (POMGNT1) NP_060209.3:p.Arg367His
ENST00000371984.7:c.1100G>A (POMGNT1) ENSP00000361052.3:p.Arg367His
ENST00000371992.1:c.1100G>A (POMGNT1) ENSP00000361060.1:p.Arg367His
ENST00000396420.7:c.*769G>A (POMGNT1) ENSP00000379698.3:n.*769G>A
ENST00000396420.8:c.1100G>A (POMGNT1) ENSP00000379698.4:p.Arg367His
ENST00000477114.2:n.1662G>A (POMGNT1)
ENST00000485714.1:n.486G>A (POMGNT1)
ENST00000497439.6:n.1272G>A (POMGNT1)
ENST00000684817.1:n.1460G>A (POMGNT1)
ENST00000684898.1:n.1662G>A (POMGNT1)
ENST00000685230.1:c.*410G>A (POMGNT1) ENSP00000510305.1:n.*410G>A
ENST00000685275.1:n.1647G>A (POMGNT1)
ENST00000685444.1:c.1001G>A (POMGNT1) ENSP00000510762.1:p.Arg334His
ENST00000685704.1:n.1662G>A (POMGNT1)
ENST00000685775.1:n.2627G>A (POMGNT1)
ENST00000685833.1:n.1978G>A (POMGNT1)
ENST00000686252.1:n.2174G>A (POMGNT1)
ENST00000686379.1:c.*224G>A (POMGNT1) ENSP00000508913.1:n.*224G>A
ENST00000686724.1:n.1272G>A (POMGNT1)
ENST00000686737.1:c.1100G>A (POMGNT1) ENSP00000508736.1:p.Arg367His
ENST00000687112.1:n.1662G>A (POMGNT1)
ENST00000687149.1:c.1100G>A (POMGNT1) ENSP00000509745.1:p.Arg367His
ENST00000687197.1:c.*40G>A (POMGNT1) ENSP00000510749.1:n.*40G>A
ENST00000687235.1:n.1662G>A (POMGNT1)
ENST00000687613.1:n.1850G>A (POMGNT1)
ENST00000687683.1:c.1100G>A (POMGNT1) ENSP00000508522.1:p.Arg367His
ENST00000688032.1:n.1662G>A (POMGNT1)
ENST00000688596.1:n.1447G>A (POMGNT1)
ENST00000688608.1:c.1001G>A (POMGNT1) ENSP00000508890.1:p.Arg334His
ENST00000688919.1:n.2296G>A (POMGNT1)
ENST00000689031.1:n.1662G>A (POMGNT1)
ENST00000689717.1:n.1272G>A (POMGNT1)
ENST00000689756.1:c.*732G>A (POMGNT1) ENSP00000509023.1:n.*732G>A
ENST00000690377.1:n.1447G>A (POMGNT1)
ENST00000690678.1:c.1100G>A (POMGNT1) ENSP00000508703.1:p.Arg367His
ENST00000691209.1:c.*40G>A (POMGNT1) ENSP00000510112.1:n.*40G>A
ENST00000691243.1:c.1100G>A (POMGNT1) ENSP00000510654.1:p.Arg367His
ENST00000692169.1:n.1249G>A (POMGNT1)
ENST00000692202.1:n.1675G>A (POMGNT1)
ENST00000692322.1:c.*952G>A (POMGNT1) ENSP00000509017.1:n.*952G>A
ENST00000692369.1:c.1100G>A (POMGNT1) ENSP00000508453.1:p.Arg367His
ENST00000692599.1:n.1662G>A (POMGNT1)
ENST00000692635.1:c.*40G>A (POMGNT1) ENSP00000508425.1:n.*40G>A
ENST00000693168.1:n.1272G>A (POMGNT1)
ENST00000693218.1:c.1100G>A (POMGNT1) ENSP00000510577.1:p.Arg367His
ENST00000693223.1:n.1744G>A (POMGNT1)
ENST00000693365.1:n.3430G>A (POMGNT1)
XM_005271010.1:c.1100G>A (POMGNT1) XP_005271067.1:p.Arg367His
XM_006710755.1:c.1100G>A (POMGNT1) XP_006710818.1:p.Arg367His
XM_006710756.1:c.1100G>A (POMGNT1) XP_006710819.1:p.Arg367His
XM_011540460.1:c.679-2887C>T (TSPAN1) XP_011538762.1:n.679-2887C>T
XM_011540460.3:c.679-2887C>T (TSPAN1) XP_011538762.1:n.679-2887C>T
XM_011540461.1:c.634-2887C>T (TSPAN1) XP_011538763.1:n.634-2887C>T
XM_011541759.1:c.1034G>A (POMGNT1) XP_011540061.1:p.Arg345His
XM_011541760.1:c.1034G>A (POMGNT1) XP_011540062.1:p.Arg345His
XM_011541760.3:c.1034G>A (POMGNT1) XP_011540062.1:p.Arg345His
XM_011541761.1:c.7G>A (POMGNT1) XP_011540063.1:p.Ala3Thr
XM_017001690.1:c.1100G>A (POMGNT1) XP_016857179.1:p.Arg367His
XR_946706.1:n.1259G>A (POMGNT1)