Canonical Allele Identifier: CA340171801

Gene: POMGNT1 TSPAN1

Linked Data

• MyVariant Identifiers: chr1:g.46656169T>A (hg19) ; chr1:g.46190497T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46190497T>A , CM000663.2:g.46190497T>A	GRCh38
NC_000001.10:g.46656169T>A , CM000663.1:g.46656169T>A	GRCh37
NC_000001.9:g.46428756T>A	NCBI36
NG_009205.2:g.34809A>T
NG_009205.3:g.34809A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1625A>T (POMGNT1)	ENSP00000379698.4:p.Glu542Val
ENST00000477114.2:n.2187A>T (POMGNT1)
ENST00000497439.6:n.1797A>T (POMGNT1)
ENST00000684817.1:n.1985A>T (POMGNT1)
ENST00000684898.1:n.2187A>T (POMGNT1)
ENST00000685230.1:c.*935A>T (POMGNT1)	ENSP00000510305.1:n.*935A>T
ENST00000685275.1:n.2172A>T (POMGNT1)
ENST00000685444.1:c.1526A>T (POMGNT1)	ENSP00000510762.1:p.Glu509Val
ENST00000685704.1:n.2291A>T (POMGNT1)
ENST00000685775.1:n.4667A>T (POMGNT1)
ENST00000685833.1:n.4018A>T (POMGNT1)
ENST00000686252.1:n.2699A>T (POMGNT1)
ENST00000686379.1:c.*749A>T (POMGNT1)	ENSP00000508913.1:n.*749A>T
ENST00000686724.1:n.3312A>T (POMGNT1)
ENST00000686737.1:c.1625A>T (POMGNT1)	ENSP00000508736.1:p.Glu542Val
ENST00000687112.1:n.2491A>T (POMGNT1)
ENST00000687149.1:c.1664A>T (POMGNT1)	ENSP00000509745.1:p.Glu555Val
ENST00000687197.1:c.*565A>T (POMGNT1)	ENSP00000510749.1:n.*565A>T
ENST00000687235.1:n.3702A>T (POMGNT1)
ENST00000687613.1:n.2290-508A>T (POMGNT1)
ENST00000687683.1:c.1625A>T (POMGNT1)	ENSP00000508522.1:p.Glu542Val
ENST00000688032.1:n.2162A>T (POMGNT1)
ENST00000688596.1:n.2276A>T (POMGNT1)
ENST00000688608.1:c.1526A>T (POMGNT1)	ENSP00000508890.1:p.Glu509Val
ENST00000688919.1:n.3023A>T (POMGNT1)
ENST00000689031.1:n.2102-508A>T (POMGNT1)
ENST00000689717.1:n.1999A>T (POMGNT1)
ENST00000689756.1:c.*1257A>T (POMGNT1)	ENSP00000509023.1:n.*1257A>T
ENST00000690377.1:n.1972A>T (POMGNT1)
ENST00000690678.1:c.1625A>T (POMGNT1)	ENSP00000508703.1:p.Glu542Val
ENST00000691209.1:c.*565A>T (POMGNT1)	ENSP00000510112.1:n.*565A>T
ENST00000691243.1:c.*16A>T (POMGNT1)	ENSP00000510654.1:n.*16A>T
ENST00000692169.1:n.3289A>T (POMGNT1)
ENST00000692202.1:n.2200A>T (POMGNT1)
ENST00000692322.1:c.*1412A>T (POMGNT1)	ENSP00000509017.1:n.*1412A>T
ENST00000692369.1:c.1625A>T (POMGNT1)	ENSP00000508453.1:p.Glu542Val
ENST00000692599.1:n.3500A>T (POMGNT1)
ENST00000692635.1:c.*500A>T (POMGNT1)	ENSP00000508425.1:n.*500A>T
ENST00000693168.1:n.3401A>T (POMGNT1)
ENST00000693218.1:c.*186A>T (POMGNT1)	ENSP00000510577.1:n.*186A>T
ENST00000693223.1:n.2573A>T (POMGNT1)
ENST00000693365.1:n.5774A>T (POMGNT1)
ENST00000371984.8:c.1625A>T (POMGNT1) MANE Select	ENSP00000361052.3:p.Glu542Val
ENST00000371984.7:c.1625A>T (POMGNT1)	ENSP00000361052.3:p.Glu542Val
ENST00000371992.1:c.1625A>T (POMGNT1)	ENSP00000361060.1:p.Glu542Val
ENST00000396420.7:c.*1294A>T (POMGNT1)	ENSP00000379698.3:n.*1294A>T
ENST00000480972.1:n.274A>T (POMGNT1)
ENST00000485714.1:n.2526A>T (POMGNT1)
NM_001243766.1:c.1625A>T (POMGNT1)	NP_001230695.1:p.Glu542Val
NM_001290129.1:c.1559A>T (POMGNT1)	NP_001277058.1:p.Glu520Val
NM_001290130.1:c.1196A>T (POMGNT1)	NP_001277059.1:p.Glu399Val
NM_017739.3:c.1625A>T (POMGNT1)	NP_060209.3:p.Glu542Val
XM_005271010.1:c.1625A>T (POMGNT1)	XP_005271067.1:p.Glu542Val
XM_006710755.1:c.1625A>T (POMGNT1)	XP_006710818.1:p.Glu542Val
XM_006710756.1:c.1625A>T (POMGNT1)	XP_006710819.1:p.Glu542Val
XM_011540460.1:c.678+5189T>A (TSPAN1)	XP_011538762.1:n.678+5189T>A
XM_011540461.1:c.633+5189T>A (TSPAN1)	XP_011538763.1:n.633+5189T>A
XM_011541759.1:c.1559A>T (POMGNT1)	XP_011540061.1:p.Glu520Val
XM_011541760.1:c.1559A>T (POMGNT1)	XP_011540062.1:p.Glu520Val
XM_011541761.1:c.533A>T (POMGNT1)	XP_011540063.1:p.Glu178Val
XM_011540460.3:c.678+5189T>A (TSPAN1)	XP_011538762.1:n.678+5189T>A
XM_011541760.3:c.1559A>T (POMGNT1)	XP_011540062.1:p.Glu520Val
XM_017001690.1:c.1625A>T (POMGNT1)	XP_016857179.1:p.Glu542Val
NM_001243766.2:c.1625A>T (POMGNT1)	NP_001230695.2:p.Glu542Val
NM_001290129.2:c.1559A>T (POMGNT1)	NP_001277058.2:p.Glu520Val
NM_001290130.2:c.1196A>T (POMGNT1)	NP_001277059.2:p.Glu399Val
NM_017739.4:c.1625A>T (POMGNT1) MANE Select	NP_060209.4:p.Glu542Val