Canonical Allele Identifier: CA340176789

Gene: POMGNT1 TSPAN1

Linked Data

• MyVariant Identifiers: chr1:g.46658233T>G (hg19) ; chr1:g.46192561T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46192561T>G , CM000663.2:g.46192561T>G	GRCh38
NC_000001.10:g.46658233T>G , CM000663.1:g.46658233T>G	GRCh37
NC_000001.9:g.46430820T>G	NCBI36
NG_009205.2:g.32745A>C
NG_009205.3:g.32745A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1241A>C (POMGNT1)	ENSP00000379698.4:p.Glu414Ala
ENST00000477114.2:n.1803A>C (POMGNT1)
ENST00000497439.6:n.1413A>C (POMGNT1)
ENST00000684817.1:n.1601A>C (POMGNT1)
ENST00000684898.1:n.1803A>C (POMGNT1)
ENST00000685230.1:c.*551A>C (POMGNT1)	ENSP00000510305.1:n.*551A>C
ENST00000685275.1:n.1788A>C (POMGNT1)
ENST00000685444.1:c.1142A>C (POMGNT1)	ENSP00000510762.1:p.Glu381Ala
ENST00000685704.1:n.1803A>C (POMGNT1)
ENST00000685775.1:n.2768A>C (POMGNT1)
ENST00000685833.1:n.2119A>C (POMGNT1)
ENST00000686252.1:n.2315A>C (POMGNT1)
ENST00000686379.1:c.*365A>C (POMGNT1)	ENSP00000508913.1:n.*365A>C
ENST00000686724.1:n.1413A>C (POMGNT1)
ENST00000686737.1:c.1241A>C (POMGNT1)	ENSP00000508736.1:p.Glu414Ala
ENST00000687112.1:n.2107A>C (POMGNT1)
ENST00000687149.1:c.1241A>C (POMGNT1)	ENSP00000509745.1:p.Glu414Ala
ENST00000687197.1:c.*181A>C (POMGNT1)	ENSP00000510749.1:n.*181A>C
ENST00000687235.1:n.1803A>C (POMGNT1)
ENST00000687613.1:n.1991A>C (POMGNT1)
ENST00000687683.1:c.1241A>C (POMGNT1)	ENSP00000508522.1:p.Glu414Ala
ENST00000688032.1:n.1803A>C (POMGNT1)
ENST00000688596.1:n.1892A>C (POMGNT1)
ENST00000688608.1:c.1142A>C (POMGNT1)	ENSP00000508890.1:p.Glu381Ala
ENST00000688919.1:n.2437A>C (POMGNT1)
ENST00000689031.1:n.1803A>C (POMGNT1)
ENST00000689717.1:n.1413A>C (POMGNT1)
ENST00000689756.1:c.*873A>C (POMGNT1)	ENSP00000509023.1:n.*873A>C
ENST00000690377.1:n.1588A>C (POMGNT1)
ENST00000690678.1:c.1241A>C (POMGNT1)	ENSP00000508703.1:p.Glu414Ala
ENST00000691209.1:c.*181A>C (POMGNT1)	ENSP00000510112.1:n.*181A>C
ENST00000691243.1:c.1241A>C (POMGNT1)	ENSP00000510654.1:p.Glu414Ala
ENST00000692169.1:n.1390A>C (POMGNT1)
ENST00000692202.1:n.1816A>C (POMGNT1)
ENST00000692322.1:c.*1093A>C (POMGNT1)	ENSP00000509017.1:n.*1093A>C
ENST00000692369.1:c.1241A>C (POMGNT1)	ENSP00000508453.1:p.Glu414Ala
ENST00000692599.1:n.1803A>C (POMGNT1)
ENST00000692635.1:c.*181A>C (POMGNT1)	ENSP00000508425.1:n.*181A>C
ENST00000693168.1:n.1502A>C (POMGNT1)
ENST00000693218.1:c.1241A>C (POMGNT1)	ENSP00000510577.1:p.Glu414Ala
ENST00000693223.1:n.2189A>C (POMGNT1)
ENST00000693365.1:n.3875A>C (POMGNT1)
ENST00000371984.8:c.1241A>C (POMGNT1) MANE Select	ENSP00000361052.3:p.Glu414Ala
ENST00000371984.7:c.1241A>C (POMGNT1)	ENSP00000361052.3:p.Glu414Ala
ENST00000371992.1:c.1241A>C (POMGNT1)	ENSP00000361060.1:p.Glu414Ala
ENST00000396420.7:c.*910A>C (POMGNT1)	ENSP00000379698.3:n.*910A>C
ENST00000485714.1:n.627A>C (POMGNT1)
NM_001243766.1:c.1241A>C (POMGNT1)	NP_001230695.1:p.Glu414Ala
NM_001290129.1:c.1175A>C (POMGNT1)	NP_001277058.1:p.Glu392Ala
NM_001290130.1:c.812A>C (POMGNT1)	NP_001277059.1:p.Glu271Ala
NM_017739.3:c.1241A>C (POMGNT1)	NP_060209.3:p.Glu414Ala
XM_005271010.1:c.1241A>C (POMGNT1)	XP_005271067.1:p.Glu414Ala
XM_006710755.1:c.1241A>C (POMGNT1)	XP_006710818.1:p.Glu414Ala
XM_006710756.1:c.1241A>C (POMGNT1)	XP_006710819.1:p.Glu414Ala
XM_011540460.1:c.679-3641T>G (TSPAN1)	XP_011538762.1:n.679-3641T>G
XM_011540461.1:c.634-3641T>G (TSPAN1)	XP_011538763.1:n.634-3641T>G
XM_011541759.1:c.1175A>C (POMGNT1)	XP_011540061.1:p.Glu392Ala
XM_011541760.1:c.1175A>C (POMGNT1)	XP_011540062.1:p.Glu392Ala
XM_011541761.1:c.149A>C (POMGNT1)	XP_011540063.1:p.Glu50Ala
XR_946706.1:n.1401A>C (POMGNT1)
XM_011540460.3:c.679-3641T>G (TSPAN1)	XP_011538762.1:n.679-3641T>G
XM_011541760.3:c.1175A>C (POMGNT1)	XP_011540062.1:p.Glu392Ala
XM_017001690.1:c.1241A>C (POMGNT1)	XP_016857179.1:p.Glu414Ala
NM_001243766.2:c.1241A>C (POMGNT1)	NP_001230695.2:p.Glu414Ala
NM_001290129.2:c.1175A>C (POMGNT1)	NP_001277058.2:p.Glu392Ala
NM_001290130.2:c.812A>C (POMGNT1)	NP_001277059.2:p.Glu271Ala
NM_017739.4:c.1241A>C (POMGNT1) MANE Select	NP_060209.4:p.Glu414Ala