Canonical Allele Identifier: CA833756
Community Standard Title: NM_017739.4(POMGNT1):c.385C>T (p.Arg129Trp)
Gene: POMGNT1 HGNC NCBI
TSPAN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.46196047G>A , CM000663.2:g.46196047G>A GRCh38
NC_000001.10:g.46661719G>A , CM000663.1:g.46661719G>A GRCh37
NC_000001.9:g.46434306G>A NCBI36
NG_009205.2:g.29259C>T
NG_009205.3:g.29259C>T

Transcript Alleles

HGVS Amino-acid Change
NM_017739.4:c.385C>T (POMGNT1) MANE Select NP_060209.4:p.Arg129Trp
ENST00000371984.8:c.385C>T (POMGNT1) MANE Select ENSP00000361052.3:p.Arg129Trp
NM_001243766.1:c.385C>T (POMGNT1) NP_001230695.1:p.Arg129Trp
NM_001243766.2:c.385C>T (POMGNT1) NP_001230695.2:p.Arg129Trp
NM_001290129.1:c.319C>T (POMGNT1) NP_001277058.1:p.Arg107Trp
NM_001290129.2:c.319C>T (POMGNT1) NP_001277058.2:p.Arg107Trp
NM_001290130.1:c.-45C>T (POMGNT1) NP_001277059.1:n.-45C>T
NM_001290130.2:c.-45C>T (POMGNT1) NP_001277059.2:n.-45C>T
NM_017739.3:c.385C>T (POMGNT1) NP_060209.3:p.Arg129Trp
ENST00000371984.7:c.385C>T (POMGNT1) ENSP00000361052.3:p.Arg129Trp
ENST00000371992.1:c.385C>T (POMGNT1) ENSP00000361060.1:p.Arg129Trp
ENST00000396420.7:c.385C>T (POMGNT1) ENSP00000379698.3:p.Arg129Trp
ENST00000396420.8:c.385C>T (POMGNT1) ENSP00000379698.4:p.Arg129Trp
ENST00000477114.2:n.557C>T (POMGNT1)
ENST00000489985.1:n.618C>T (POMGNT1)
ENST00000497439.5:n.509C>T (POMGNT1)
ENST00000497439.6:n.557C>T (POMGNT1)
ENST00000684817.1:n.553C>T (POMGNT1)
ENST00000684898.1:n.557C>T (POMGNT1)
ENST00000685230.1:c.385C>T (POMGNT1) ENSP00000510305.1:p.Arg129Trp
ENST00000685275.1:n.542C>T (POMGNT1)
ENST00000685444.1:c.385C>T (POMGNT1) ENSP00000510762.1:p.Arg129Trp
ENST00000685704.1:n.557C>T (POMGNT1)
ENST00000685775.1:n.1330C>T (POMGNT1)
ENST00000685833.1:n.530C>T (POMGNT1)
ENST00000686252.1:n.1459C>T (POMGNT1)
ENST00000686379.1:c.385C>T (POMGNT1) ENSP00000508913.1:p.Arg129Trp
ENST00000686724.1:n.557C>T (POMGNT1)
ENST00000686737.1:c.385C>T (POMGNT1) ENSP00000508736.1:p.Arg129Trp
ENST00000687112.1:n.557C>T (POMGNT1)
ENST00000687149.1:c.385C>T (POMGNT1) ENSP00000509745.1:p.Arg129Trp
ENST00000687197.1:c.385C>T (POMGNT1) ENSP00000510749.1:p.Arg129Trp
ENST00000687235.1:n.557C>T (POMGNT1)
ENST00000687613.1:n.553C>T (POMGNT1)
ENST00000687683.1:c.385C>T (POMGNT1) ENSP00000508522.1:p.Arg129Trp
ENST00000688032.1:n.557C>T (POMGNT1)
ENST00000688596.1:n.557C>T (POMGNT1)
ENST00000688608.1:c.385C>T (POMGNT1) ENSP00000508890.1:p.Arg129Trp
ENST00000688919.1:n.1191C>T (POMGNT1)
ENST00000689031.1:n.557C>T (POMGNT1)
ENST00000689717.1:n.557C>T (POMGNT1)
ENST00000689756.1:c.*17C>T (POMGNT1) ENSP00000509023.1:n.*17C>T
ENST00000690377.1:n.557C>T (POMGNT1)
ENST00000690678.1:c.385C>T (POMGNT1) ENSP00000508703.1:p.Arg129Trp
ENST00000691209.1:c.385C>T (POMGNT1) ENSP00000510112.1:p.Arg129Trp
ENST00000691243.1:c.385C>T (POMGNT1) ENSP00000510654.1:p.Arg129Trp
ENST00000692169.1:n.557C>T (POMGNT1)
ENST00000692202.1:n.553C>T (POMGNT1)
ENST00000692322.1:c.*237C>T (POMGNT1) ENSP00000509017.1:n.*237C>T
ENST00000692369.1:c.385C>T (POMGNT1) ENSP00000508453.1:p.Arg129Trp
ENST00000692599.1:n.557C>T (POMGNT1)
ENST00000692635.1:c.385C>T (POMGNT1) ENSP00000508425.1:p.Arg129Trp
ENST00000693168.1:n.557C>T (POMGNT1)
ENST00000693218.1:c.385C>T (POMGNT1) ENSP00000510577.1:p.Arg129Trp
ENST00000693223.1:n.1029C>T (POMGNT1)
ENST00000693365.1:n.1284C>T (POMGNT1)
XM_005271010.1:c.385C>T (POMGNT1) XP_005271067.1:p.Arg129Trp
XM_006710755.1:c.385C>T (POMGNT1) XP_006710818.1:p.Arg129Trp
XM_006710756.1:c.385C>T (POMGNT1) XP_006710819.1:p.Arg129Trp
XM_011540460.1:c.679-155G>A (TSPAN1) XP_011538762.1:n.679-155G>A
XM_011540460.3:c.679-155G>A (TSPAN1) XP_011538762.1:n.679-155G>A
XM_011540461.1:c.634-155G>A (TSPAN1) XP_011538763.1:n.634-155G>A
XM_011541759.1:c.319C>T (POMGNT1) XP_011540061.1:p.Arg107Trp
XM_011541760.1:c.319C>T (POMGNT1) XP_011540062.1:p.Arg107Trp
XM_011541760.3:c.319C>T (POMGNT1) XP_011540062.1:p.Arg107Trp
XM_017001690.1:c.385C>T (POMGNT1) XP_016857179.1:p.Arg129Trp
XR_946706.1:n.544C>T (POMGNT1)