Canonical Allele Identifier: CA340175293

Gene: POMGNT1 TSPAN1

Linked Data

• ClinVar Variation Id: 2112726
• ClinVar RCV Id: RCV003026963
• gnomAD v4: 1-46192369-C-T
• MyVariant Identifiers: chr1:g.46658041C>T (hg19) ; chr1:g.46192369C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46192369C>T , CM000663.2:g.46192369C>T	GRCh38
NC_000001.10:g.46658041C>T , CM000663.1:g.46658041C>T	GRCh37
NC_000001.9:g.46430628C>T	NCBI36
NG_009205.2:g.32937G>A
NG_009205.3:g.32937G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1352G>A (POMGNT1)	ENSP00000379698.4:p.Trp451Ter
ENST00000477114.2:n.1914G>A (POMGNT1)
ENST00000497439.6:n.1524G>A (POMGNT1)
ENST00000684817.1:n.1712G>A (POMGNT1)
ENST00000684898.1:n.1914G>A (POMGNT1)
ENST00000685230.1:c.*662G>A (POMGNT1)	ENSP00000510305.1:n.*662G>A
ENST00000685275.1:n.1899G>A (POMGNT1)
ENST00000685444.1:c.1253G>A (POMGNT1)	ENSP00000510762.1:p.Trp418Ter
ENST00000685704.1:n.1914G>A (POMGNT1)
ENST00000685775.1:n.2879G>A (POMGNT1)
ENST00000685833.1:n.2230G>A (POMGNT1)
ENST00000686252.1:n.2426G>A (POMGNT1)
ENST00000686379.1:c.*476G>A (POMGNT1)	ENSP00000508913.1:n.*476G>A
ENST00000686724.1:n.1524G>A (POMGNT1)
ENST00000686737.1:c.1352G>A (POMGNT1)	ENSP00000508736.1:p.Trp451Ter
ENST00000687112.1:n.2218G>A (POMGNT1)
ENST00000687149.1:c.1352G>A (POMGNT1)	ENSP00000509745.1:p.Trp451Ter
ENST00000687197.1:c.*292G>A (POMGNT1)	ENSP00000510749.1:n.*292G>A
ENST00000687235.1:n.1914G>A (POMGNT1)
ENST00000687613.1:n.2102G>A (POMGNT1)
ENST00000687683.1:c.1352G>A (POMGNT1)	ENSP00000508522.1:p.Trp451Ter
ENST00000688032.1:n.1914G>A (POMGNT1)
ENST00000688596.1:n.2003G>A (POMGNT1)
ENST00000688608.1:c.1253G>A (POMGNT1)	ENSP00000508890.1:p.Trp418Ter
ENST00000688919.1:n.2548G>A (POMGNT1)
ENST00000689031.1:n.1914G>A (POMGNT1)
ENST00000689717.1:n.1524G>A (POMGNT1)
ENST00000689756.1:c.*984G>A (POMGNT1)	ENSP00000509023.1:n.*984G>A
ENST00000690377.1:n.1699G>A (POMGNT1)
ENST00000690678.1:c.1352G>A (POMGNT1)	ENSP00000508703.1:p.Trp451Ter
ENST00000691209.1:c.*292G>A (POMGNT1)	ENSP00000510112.1:n.*292G>A
ENST00000691243.1:c.1352G>A (POMGNT1)	ENSP00000510654.1:p.Trp451Ter
ENST00000692169.1:n.1501G>A (POMGNT1)
ENST00000692202.1:n.1927G>A (POMGNT1)
ENST00000692322.1:c.*1204G>A (POMGNT1)	ENSP00000509017.1:n.*1204G>A
ENST00000692369.1:c.1352G>A (POMGNT1)	ENSP00000508453.1:p.Trp451Ter
ENST00000692599.1:n.1914G>A (POMGNT1)
ENST00000692635.1:c.*292G>A (POMGNT1)	ENSP00000508425.1:n.*292G>A
ENST00000693168.1:n.1613G>A (POMGNT1)
ENST00000693218.1:c.1352G>A (POMGNT1)	ENSP00000510577.1:p.Trp451Ter
ENST00000693223.1:n.2300G>A (POMGNT1)
ENST00000693365.1:n.3986G>A (POMGNT1)
ENST00000371984.8:c.1352G>A (POMGNT1) MANE Select	ENSP00000361052.3:p.Trp451Ter
ENST00000371984.7:c.1352G>A (POMGNT1)	ENSP00000361052.3:p.Trp451Ter
ENST00000371992.1:c.1352G>A (POMGNT1)	ENSP00000361060.1:p.Trp451Ter
ENST00000396420.7:c.*1021G>A (POMGNT1)	ENSP00000379698.3:n.*1021G>A
ENST00000485714.1:n.738G>A (POMGNT1)
NM_001243766.1:c.1352G>A (POMGNT1)	NP_001230695.1:p.Trp451Ter
NM_001290129.1:c.1286G>A (POMGNT1)	NP_001277058.1:p.Trp429Ter
NM_001290130.1:c.923G>A (POMGNT1)	NP_001277059.1:p.Trp308Ter
NM_017739.3:c.1352G>A (POMGNT1)	NP_060209.3:p.Trp451Ter
XM_005271010.1:c.1352G>A (POMGNT1)	XP_005271067.1:p.Trp451Ter
XM_006710755.1:c.1352G>A (POMGNT1)	XP_006710818.1:p.Trp451Ter
XM_006710756.1:c.1352G>A (POMGNT1)	XP_006710819.1:p.Trp451Ter
XM_011540460.1:c.679-3833C>T (TSPAN1)	XP_011538762.1:n.679-3833C>T
XM_011540461.1:c.634-3833C>T (TSPAN1)	XP_011538763.1:n.634-3833C>T
XM_011541759.1:c.1286G>A (POMGNT1)	XP_011540061.1:p.Trp429Ter
XM_011541760.1:c.1286G>A (POMGNT1)	XP_011540062.1:p.Trp429Ter
XM_011541761.1:c.260G>A (POMGNT1)	XP_011540063.1:p.Trp87Ter
XR_946706.1:n.1512G>A (POMGNT1)
XM_011540460.3:c.679-3833C>T (TSPAN1)	XP_011538762.1:n.679-3833C>T
XM_011541760.3:c.1286G>A (POMGNT1)	XP_011540062.1:p.Trp429Ter
XM_017001690.1:c.1352G>A (POMGNT1)	XP_016857179.1:p.Trp451Ter
NM_001243766.2:c.1352G>A (POMGNT1)	NP_001230695.2:p.Trp451Ter
NM_001290129.2:c.1286G>A (POMGNT1)	NP_001277058.2:p.Trp429Ter
NM_001290130.2:c.923G>A (POMGNT1)	NP_001277059.2:p.Trp308Ter
NM_017739.4:c.1352G>A (POMGNT1) MANE Select	NP_060209.4:p.Trp451Ter