Canonical Allele Identifier: CA417886237

Gene: POMGNT1 TSPAN1

Linked Data

• MyVariant Identifiers: chr1:g.46658064C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46192392C>A , CM000663.2:g.46192392C>A	GRCh38
NC_000001.10:g.46658064C>A , CM000663.1:g.46658064C>A	GRCh37
NC_000001.9:g.46430651C>A	NCBI36
NG_009205.2:g.32914G>T
NG_009205.3:g.32914G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000396420.8:c.1329G>T (POMGNT1)	ENSP00000379698.4:p.Val443=
ENST00000477114.2:n.1891G>T (POMGNT1)
ENST00000497439.6:n.1501G>T (POMGNT1)
ENST00000684817.1:n.1689G>T (POMGNT1)
ENST00000684898.1:n.1891G>T (POMGNT1)
ENST00000685230.1:c.*639G>T (POMGNT1)	ENSP00000510305.1:n.*639G>T
ENST00000685275.1:n.1876G>T (POMGNT1)
ENST00000685444.1:c.1230G>T (POMGNT1)	ENSP00000510762.1:p.Val410=
ENST00000685704.1:n.1891G>T (POMGNT1)
ENST00000685775.1:n.2856G>T (POMGNT1)
ENST00000685833.1:n.2207G>T (POMGNT1)
ENST00000686252.1:n.2403G>T (POMGNT1)
ENST00000686379.1:c.*453G>T (POMGNT1)	ENSP00000508913.1:n.*453G>T
ENST00000686724.1:n.1501G>T (POMGNT1)
ENST00000686737.1:c.1329G>T (POMGNT1)	ENSP00000508736.1:p.Val443=
ENST00000687112.1:n.2195G>T (POMGNT1)
ENST00000687149.1:c.1329G>T (POMGNT1)	ENSP00000509745.1:p.Val443=
ENST00000687197.1:c.*269G>T (POMGNT1)	ENSP00000510749.1:n.*269G>T
ENST00000687235.1:n.1891G>T (POMGNT1)
ENST00000687613.1:n.2079G>T (POMGNT1)
ENST00000687683.1:c.1329G>T (POMGNT1)	ENSP00000508522.1:p.Val443=
ENST00000688032.1:n.1891G>T (POMGNT1)
ENST00000688596.1:n.1980G>T (POMGNT1)
ENST00000688608.1:c.1230G>T (POMGNT1)	ENSP00000508890.1:p.Val410=
ENST00000688919.1:n.2525G>T (POMGNT1)
ENST00000689031.1:n.1891G>T (POMGNT1)
ENST00000689717.1:n.1501G>T (POMGNT1)
ENST00000689756.1:c.*961G>T (POMGNT1)	ENSP00000509023.1:n.*961G>T
ENST00000690377.1:n.1676G>T (POMGNT1)
ENST00000690678.1:c.1329G>T (POMGNT1)	ENSP00000508703.1:p.Val443=
ENST00000691209.1:c.*269G>T (POMGNT1)	ENSP00000510112.1:n.*269G>T
ENST00000691243.1:c.1329G>T (POMGNT1)	ENSP00000510654.1:p.Val443=
ENST00000692169.1:n.1478G>T (POMGNT1)
ENST00000692202.1:n.1904G>T (POMGNT1)
ENST00000692322.1:c.*1181G>T (POMGNT1)	ENSP00000509017.1:n.*1181G>T
ENST00000692369.1:c.1329G>T (POMGNT1)	ENSP00000508453.1:p.Val443=
ENST00000692599.1:n.1891G>T (POMGNT1)
ENST00000692635.1:c.*269G>T (POMGNT1)	ENSP00000508425.1:n.*269G>T
ENST00000693168.1:n.1590G>T (POMGNT1)
ENST00000693218.1:c.1329G>T (POMGNT1)	ENSP00000510577.1:p.Val443=
ENST00000693223.1:n.2277G>T (POMGNT1)
ENST00000693365.1:n.3963G>T (POMGNT1)
ENST00000371984.8:c.1329G>T (POMGNT1) MANE Select	ENSP00000361052.3:p.Val443=
ENST00000371984.7:c.1329G>T (POMGNT1)	ENSP00000361052.3:p.Val443=
ENST00000371992.1:c.1329G>T (POMGNT1)	ENSP00000361060.1:p.Val443=
ENST00000396420.7:c.*998G>T (POMGNT1)	ENSP00000379698.3:n.*998G>T
ENST00000485714.1:n.715G>T (POMGNT1)
NM_001243766.1:c.1329G>T (POMGNT1)	NP_001230695.1:p.Val443=
NM_001290129.1:c.1263G>T (POMGNT1)	NP_001277058.1:p.Val421=
NM_001290130.1:c.900G>T (POMGNT1)	NP_001277059.1:p.Val300=
NM_017739.3:c.1329G>T (POMGNT1)	NP_060209.3:p.Val443=
XM_005271010.1:c.1329G>T (POMGNT1)	XP_005271067.1:p.Val443=
XM_006710755.1:c.1329G>T (POMGNT1)	XP_006710818.1:p.Val443=
XM_006710756.1:c.1329G>T (POMGNT1)	XP_006710819.1:p.Val443=
XM_011540460.1:c.679-3810C>A (TSPAN1)	XP_011538762.1:n.679-3810C>A
XM_011540461.1:c.634-3810C>A (TSPAN1)	XP_011538763.1:n.634-3810C>A
XM_011541759.1:c.1263G>T (POMGNT1)	XP_011540061.1:p.Val421=
XM_011541760.1:c.1263G>T (POMGNT1)	XP_011540062.1:p.Val421=
XM_011541761.1:c.237G>T (POMGNT1)	XP_011540063.1:p.Val79=
XR_946706.1:n.1489G>T (POMGNT1)
XM_011540460.3:c.679-3810C>A (TSPAN1)	XP_011538762.1:n.679-3810C>A
XM_011541760.3:c.1263G>T (POMGNT1)	XP_011540062.1:p.Val421=
XM_017001690.1:c.1329G>T (POMGNT1)	XP_016857179.1:p.Val443=
NM_001243766.2:c.1329G>T (POMGNT1)	NP_001230695.2:p.Val443=
NM_001290129.2:c.1263G>T (POMGNT1)	NP_001277058.2:p.Val421=
NM_001290130.2:c.900G>T (POMGNT1)	NP_001277059.2:p.Val300=
NM_017739.4:c.1329G>T (POMGNT1) MANE Select	NP_060209.4:p.Val443=