Canonical Allele Identifier: CA340176724

Gene: POMGNT1 TSPAN1

Linked Data

• MyVariant Identifiers: chr1:g.46658229C>G (hg19) ; chr1:g.46192557C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46192557C>G , CM000663.2:g.46192557C>G	GRCh38
NC_000001.10:g.46658229C>G , CM000663.1:g.46658229C>G	GRCh37
NC_000001.9:g.46430816C>G	NCBI36
NG_009205.2:g.32749G>C
NG_009205.3:g.32749G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1245G>C (POMGNT1)	ENSP00000379698.4:p.Glu415Asp
ENST00000477114.2:n.1807G>C (POMGNT1)
ENST00000497439.6:n.1417G>C (POMGNT1)
ENST00000684817.1:n.1605G>C (POMGNT1)
ENST00000684898.1:n.1807G>C (POMGNT1)
ENST00000685230.1:c.*555G>C (POMGNT1)	ENSP00000510305.1:n.*555G>C
ENST00000685275.1:n.1792G>C (POMGNT1)
ENST00000685444.1:c.1146G>C (POMGNT1)	ENSP00000510762.1:p.Glu382Asp
ENST00000685704.1:n.1807G>C (POMGNT1)
ENST00000685775.1:n.2772G>C (POMGNT1)
ENST00000685833.1:n.2123G>C (POMGNT1)
ENST00000686252.1:n.2319G>C (POMGNT1)
ENST00000686379.1:c.*369G>C (POMGNT1)	ENSP00000508913.1:n.*369G>C
ENST00000686724.1:n.1417G>C (POMGNT1)
ENST00000686737.1:c.1245G>C (POMGNT1)	ENSP00000508736.1:p.Glu415Asp
ENST00000687112.1:n.2111G>C (POMGNT1)
ENST00000687149.1:c.1245G>C (POMGNT1)	ENSP00000509745.1:p.Glu415Asp
ENST00000687197.1:c.*185G>C (POMGNT1)	ENSP00000510749.1:n.*185G>C
ENST00000687235.1:n.1807G>C (POMGNT1)
ENST00000687613.1:n.1995G>C (POMGNT1)
ENST00000687683.1:c.1245G>C (POMGNT1)	ENSP00000508522.1:p.Glu415Asp
ENST00000688032.1:n.1807G>C (POMGNT1)
ENST00000688596.1:n.1896G>C (POMGNT1)
ENST00000688608.1:c.1146G>C (POMGNT1)	ENSP00000508890.1:p.Glu382Asp
ENST00000688919.1:n.2441G>C (POMGNT1)
ENST00000689031.1:n.1807G>C (POMGNT1)
ENST00000689717.1:n.1417G>C (POMGNT1)
ENST00000689756.1:c.*877G>C (POMGNT1)	ENSP00000509023.1:n.*877G>C
ENST00000690377.1:n.1592G>C (POMGNT1)
ENST00000690678.1:c.1245G>C (POMGNT1)	ENSP00000508703.1:p.Glu415Asp
ENST00000691209.1:c.*185G>C (POMGNT1)	ENSP00000510112.1:n.*185G>C
ENST00000691243.1:c.1245G>C (POMGNT1)	ENSP00000510654.1:p.Glu415Asp
ENST00000692169.1:n.1394G>C (POMGNT1)
ENST00000692202.1:n.1820G>C (POMGNT1)
ENST00000692322.1:c.*1097G>C (POMGNT1)	ENSP00000509017.1:n.*1097G>C
ENST00000692369.1:c.1245G>C (POMGNT1)	ENSP00000508453.1:p.Glu415Asp
ENST00000692599.1:n.1807G>C (POMGNT1)
ENST00000692635.1:c.*185G>C (POMGNT1)	ENSP00000508425.1:n.*185G>C
ENST00000693168.1:n.1506G>C (POMGNT1)
ENST00000693218.1:c.1245G>C (POMGNT1)	ENSP00000510577.1:p.Glu415Asp
ENST00000693223.1:n.2193G>C (POMGNT1)
ENST00000693365.1:n.3879G>C (POMGNT1)
ENST00000371984.8:c.1245G>C (POMGNT1) MANE Select	ENSP00000361052.3:p.Glu415Asp
ENST00000371984.7:c.1245G>C (POMGNT1)	ENSP00000361052.3:p.Glu415Asp
ENST00000371992.1:c.1245G>C (POMGNT1)	ENSP00000361060.1:p.Glu415Asp
ENST00000396420.7:c.*914G>C (POMGNT1)	ENSP00000379698.3:n.*914G>C
ENST00000485714.1:n.631G>C (POMGNT1)
NM_001243766.1:c.1245G>C (POMGNT1)	NP_001230695.1:p.Glu415Asp
NM_001290129.1:c.1179G>C (POMGNT1)	NP_001277058.1:p.Glu393Asp
NM_001290130.1:c.816G>C (POMGNT1)	NP_001277059.1:p.Glu272Asp
NM_017739.3:c.1245G>C (POMGNT1)	NP_060209.3:p.Glu415Asp
XM_005271010.1:c.1245G>C (POMGNT1)	XP_005271067.1:p.Glu415Asp
XM_006710755.1:c.1245G>C (POMGNT1)	XP_006710818.1:p.Glu415Asp
XM_006710756.1:c.1245G>C (POMGNT1)	XP_006710819.1:p.Glu415Asp
XM_011540460.1:c.679-3645C>G (TSPAN1)	XP_011538762.1:n.679-3645C>G
XM_011540461.1:c.634-3645C>G (TSPAN1)	XP_011538763.1:n.634-3645C>G
XM_011541759.1:c.1179G>C (POMGNT1)	XP_011540061.1:p.Glu393Asp
XM_011541760.1:c.1179G>C (POMGNT1)	XP_011540062.1:p.Glu393Asp
XM_011541761.1:c.153G>C (POMGNT1)	XP_011540063.1:p.Glu51Asp
XR_946706.1:n.1405G>C (POMGNT1)
XM_011540460.3:c.679-3645C>G (TSPAN1)	XP_011538762.1:n.679-3645C>G
XM_011541760.3:c.1179G>C (POMGNT1)	XP_011540062.1:p.Glu393Asp
XM_017001690.1:c.1245G>C (POMGNT1)	XP_016857179.1:p.Glu415Asp
NM_001243766.2:c.1245G>C (POMGNT1)	NP_001230695.2:p.Glu415Asp
NM_001290129.2:c.1179G>C (POMGNT1)	NP_001277058.2:p.Glu393Asp
NM_001290130.2:c.816G>C (POMGNT1)	NP_001277059.2:p.Glu272Asp
NM_017739.4:c.1245G>C (POMGNT1) MANE Select	NP_060209.4:p.Glu415Asp