Canonical Allele Identifier: CA340171835

Gene: POMGNT1 TSPAN1

Linked Data

• MyVariant Identifiers: chr1:g.46656182T>G (hg19) ; chr1:g.46190510T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46190510T>G , CM000663.2:g.46190510T>G	GRCh38
NC_000001.10:g.46656182T>G , CM000663.1:g.46656182T>G	GRCh37
NC_000001.9:g.46428769T>G	NCBI36
NG_009205.2:g.34796A>C
NG_009205.3:g.34796A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1612A>C (POMGNT1)	ENSP00000379698.4:p.Lys538Gln
ENST00000477114.2:n.2174A>C (POMGNT1)
ENST00000497439.6:n.1784A>C (POMGNT1)
ENST00000684817.1:n.1972A>C (POMGNT1)
ENST00000684898.1:n.2174A>C (POMGNT1)
ENST00000685230.1:c.*922A>C (POMGNT1)	ENSP00000510305.1:n.*922A>C
ENST00000685275.1:n.2159A>C (POMGNT1)
ENST00000685444.1:c.1513A>C (POMGNT1)	ENSP00000510762.1:p.Lys505Gln
ENST00000685704.1:n.2278A>C (POMGNT1)
ENST00000685775.1:n.4654A>C (POMGNT1)
ENST00000685833.1:n.4005A>C (POMGNT1)
ENST00000686252.1:n.2686A>C (POMGNT1)
ENST00000686379.1:c.*736A>C (POMGNT1)	ENSP00000508913.1:n.*736A>C
ENST00000686724.1:n.3299A>C (POMGNT1)
ENST00000686737.1:c.1612A>C (POMGNT1)	ENSP00000508736.1:p.Lys538Gln
ENST00000687112.1:n.2478A>C (POMGNT1)
ENST00000687149.1:c.1651A>C (POMGNT1)	ENSP00000509745.1:p.Lys551Gln
ENST00000687197.1:c.*552A>C (POMGNT1)	ENSP00000510749.1:n.*552A>C
ENST00000687235.1:n.3689A>C (POMGNT1)
ENST00000687613.1:n.2290-521A>C (POMGNT1)
ENST00000687683.1:c.1612A>C (POMGNT1)	ENSP00000508522.1:p.Lys538Gln
ENST00000688032.1:n.2149A>C (POMGNT1)
ENST00000688596.1:n.2263A>C (POMGNT1)
ENST00000688608.1:c.1513A>C (POMGNT1)	ENSP00000508890.1:p.Lys505Gln
ENST00000688919.1:n.3010A>C (POMGNT1)
ENST00000689031.1:n.2102-521A>C (POMGNT1)
ENST00000689717.1:n.1986A>C (POMGNT1)
ENST00000689756.1:c.*1244A>C (POMGNT1)	ENSP00000509023.1:n.*1244A>C
ENST00000690377.1:n.1959A>C (POMGNT1)
ENST00000690678.1:c.1612A>C (POMGNT1)	ENSP00000508703.1:p.Lys538Gln
ENST00000691209.1:c.*552A>C (POMGNT1)	ENSP00000510112.1:n.*552A>C
ENST00000691243.1:c.*3A>C (POMGNT1)	ENSP00000510654.1:n.*3A>C
ENST00000692169.1:n.3276A>C (POMGNT1)
ENST00000692202.1:n.2187A>C (POMGNT1)
ENST00000692322.1:c.*1399A>C (POMGNT1)	ENSP00000509017.1:n.*1399A>C
ENST00000692369.1:c.1612A>C (POMGNT1)	ENSP00000508453.1:p.Lys538Gln
ENST00000692599.1:n.3487A>C (POMGNT1)
ENST00000692635.1:c.*487A>C (POMGNT1)	ENSP00000508425.1:n.*487A>C
ENST00000693168.1:n.3388A>C (POMGNT1)
ENST00000693218.1:c.*173A>C (POMGNT1)	ENSP00000510577.1:n.*173A>C
ENST00000693223.1:n.2560A>C (POMGNT1)
ENST00000693365.1:n.5761A>C (POMGNT1)
ENST00000371984.8:c.1612A>C (POMGNT1) MANE Select	ENSP00000361052.3:p.Lys538Gln
ENST00000371984.7:c.1612A>C (POMGNT1)	ENSP00000361052.3:p.Lys538Gln
ENST00000371992.1:c.1612A>C (POMGNT1)	ENSP00000361060.1:p.Lys538Gln
ENST00000396420.7:c.*1281A>C (POMGNT1)	ENSP00000379698.3:n.*1281A>C
ENST00000480972.1:n.261A>C (POMGNT1)
ENST00000485714.1:n.2513A>C (POMGNT1)
NM_001243766.1:c.1612A>C (POMGNT1)	NP_001230695.1:p.Lys538Gln
NM_001290129.1:c.1546A>C (POMGNT1)	NP_001277058.1:p.Lys516Gln
NM_001290130.1:c.1183A>C (POMGNT1)	NP_001277059.1:p.Lys395Gln
NM_017739.3:c.1612A>C (POMGNT1)	NP_060209.3:p.Lys538Gln
XM_005271010.1:c.1612A>C (POMGNT1)	XP_005271067.1:p.Lys538Gln
XM_006710755.1:c.1612A>C (POMGNT1)	XP_006710818.1:p.Lys538Gln
XM_006710756.1:c.1612A>C (POMGNT1)	XP_006710819.1:p.Lys538Gln
XM_011540460.1:c.678+5202T>G (TSPAN1)	XP_011538762.1:n.678+5202T>G
XM_011540461.1:c.633+5202T>G (TSPAN1)	XP_011538763.1:n.633+5202T>G
XM_011541759.1:c.1546A>C (POMGNT1)	XP_011540061.1:p.Lys516Gln
XM_011541760.1:c.1546A>C (POMGNT1)	XP_011540062.1:p.Lys516Gln
XM_011541761.1:c.520A>C (POMGNT1)	XP_011540063.1:p.Lys174Gln
XM_011540460.3:c.678+5202T>G (TSPAN1)	XP_011538762.1:n.678+5202T>G
XM_011541760.3:c.1546A>C (POMGNT1)	XP_011540062.1:p.Lys516Gln
XM_017001690.1:c.1612A>C (POMGNT1)	XP_016857179.1:p.Lys538Gln
NM_001243766.2:c.1612A>C (POMGNT1)	NP_001230695.2:p.Lys538Gln
NM_001290129.2:c.1546A>C (POMGNT1)	NP_001277058.2:p.Lys516Gln
NM_001290130.2:c.1183A>C (POMGNT1)	NP_001277059.2:p.Lys395Gln
NM_017739.4:c.1612A>C (POMGNT1) MANE Select	NP_060209.4:p.Lys538Gln