Canonical Allele Identifier: CA340175387

Gene: POMGNT1 TSPAN1

Linked Data

• MyVariant Identifiers: chr1:g.46658051C>T (hg19) ; chr1:g.46192379C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46192379C>T , CM000663.2:g.46192379C>T	GRCh38
NC_000001.10:g.46658051C>T , CM000663.1:g.46658051C>T	GRCh37
NC_000001.9:g.46430638C>T	NCBI36
NG_009205.2:g.32927G>A
NG_009205.3:g.32927G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1342G>A (POMGNT1)	ENSP00000379698.4:p.Gly448Arg
ENST00000477114.2:n.1904G>A (POMGNT1)
ENST00000497439.6:n.1514G>A (POMGNT1)
ENST00000684817.1:n.1702G>A (POMGNT1)
ENST00000684898.1:n.1904G>A (POMGNT1)
ENST00000685230.1:c.*652G>A (POMGNT1)	ENSP00000510305.1:n.*652G>A
ENST00000685275.1:n.1889G>A (POMGNT1)
ENST00000685444.1:c.1243G>A (POMGNT1)	ENSP00000510762.1:p.Gly415Arg
ENST00000685704.1:n.1904G>A (POMGNT1)
ENST00000685775.1:n.2869G>A (POMGNT1)
ENST00000685833.1:n.2220G>A (POMGNT1)
ENST00000686252.1:n.2416G>A (POMGNT1)
ENST00000686379.1:c.*466G>A (POMGNT1)	ENSP00000508913.1:n.*466G>A
ENST00000686724.1:n.1514G>A (POMGNT1)
ENST00000686737.1:c.1342G>A (POMGNT1)	ENSP00000508736.1:p.Gly448Arg
ENST00000687112.1:n.2208G>A (POMGNT1)
ENST00000687149.1:c.1342G>A (POMGNT1)	ENSP00000509745.1:p.Gly448Arg
ENST00000687197.1:c.*282G>A (POMGNT1)	ENSP00000510749.1:n.*282G>A
ENST00000687235.1:n.1904G>A (POMGNT1)
ENST00000687613.1:n.2092G>A (POMGNT1)
ENST00000687683.1:c.1342G>A (POMGNT1)	ENSP00000508522.1:p.Gly448Arg
ENST00000688032.1:n.1904G>A (POMGNT1)
ENST00000688596.1:n.1993G>A (POMGNT1)
ENST00000688608.1:c.1243G>A (POMGNT1)	ENSP00000508890.1:p.Gly415Arg
ENST00000688919.1:n.2538G>A (POMGNT1)
ENST00000689031.1:n.1904G>A (POMGNT1)
ENST00000689717.1:n.1514G>A (POMGNT1)
ENST00000689756.1:c.*974G>A (POMGNT1)	ENSP00000509023.1:n.*974G>A
ENST00000690377.1:n.1689G>A (POMGNT1)
ENST00000690678.1:c.1342G>A (POMGNT1)	ENSP00000508703.1:p.Gly448Arg
ENST00000691209.1:c.*282G>A (POMGNT1)	ENSP00000510112.1:n.*282G>A
ENST00000691243.1:c.1342G>A (POMGNT1)	ENSP00000510654.1:p.Gly448Arg
ENST00000692169.1:n.1491G>A (POMGNT1)
ENST00000692202.1:n.1917G>A (POMGNT1)
ENST00000692322.1:c.*1194G>A (POMGNT1)	ENSP00000509017.1:n.*1194G>A
ENST00000692369.1:c.1342G>A (POMGNT1)	ENSP00000508453.1:p.Gly448Arg
ENST00000692599.1:n.1904G>A (POMGNT1)
ENST00000692635.1:c.*282G>A (POMGNT1)	ENSP00000508425.1:n.*282G>A
ENST00000693168.1:n.1603G>A (POMGNT1)
ENST00000693218.1:c.1342G>A (POMGNT1)	ENSP00000510577.1:p.Gly448Arg
ENST00000693223.1:n.2290G>A (POMGNT1)
ENST00000693365.1:n.3976G>A (POMGNT1)
ENST00000371984.8:c.1342G>A (POMGNT1) MANE Select	ENSP00000361052.3:p.Gly448Arg
ENST00000371984.7:c.1342G>A (POMGNT1)	ENSP00000361052.3:p.Gly448Arg
ENST00000371992.1:c.1342G>A (POMGNT1)	ENSP00000361060.1:p.Gly448Arg
ENST00000396420.7:c.*1011G>A (POMGNT1)	ENSP00000379698.3:n.*1011G>A
ENST00000485714.1:n.728G>A (POMGNT1)
NM_001243766.1:c.1342G>A (POMGNT1)	NP_001230695.1:p.Gly448Arg
NM_001290129.1:c.1276G>A (POMGNT1)	NP_001277058.1:p.Gly426Arg
NM_001290130.1:c.913G>A (POMGNT1)	NP_001277059.1:p.Gly305Arg
NM_017739.3:c.1342G>A (POMGNT1)	NP_060209.3:p.Gly448Arg
XM_005271010.1:c.1342G>A (POMGNT1)	XP_005271067.1:p.Gly448Arg
XM_006710755.1:c.1342G>A (POMGNT1)	XP_006710818.1:p.Gly448Arg
XM_006710756.1:c.1342G>A (POMGNT1)	XP_006710819.1:p.Gly448Arg
XM_011540460.1:c.679-3823C>T (TSPAN1)	XP_011538762.1:n.679-3823C>T
XM_011540461.1:c.634-3823C>T (TSPAN1)	XP_011538763.1:n.634-3823C>T
XM_011541759.1:c.1276G>A (POMGNT1)	XP_011540061.1:p.Gly426Arg
XM_011541760.1:c.1276G>A (POMGNT1)	XP_011540062.1:p.Gly426Arg
XM_011541761.1:c.250G>A (POMGNT1)	XP_011540063.1:p.Gly84Arg
XR_946706.1:n.1502G>A (POMGNT1)
XM_011540460.3:c.679-3823C>T (TSPAN1)	XP_011538762.1:n.679-3823C>T
XM_011541760.3:c.1276G>A (POMGNT1)	XP_011540062.1:p.Gly426Arg
XM_017001690.1:c.1342G>A (POMGNT1)	XP_016857179.1:p.Gly448Arg
NM_001243766.2:c.1342G>A (POMGNT1)	NP_001230695.2:p.Gly448Arg
NM_001290129.2:c.1276G>A (POMGNT1)	NP_001277058.2:p.Gly426Arg
NM_001290130.2:c.913G>A (POMGNT1)	NP_001277059.2:p.Gly305Arg
NM_017739.4:c.1342G>A (POMGNT1) MANE Select	NP_060209.4:p.Gly448Arg