Canonical Allele Identifier: CA340171649

Gene: POMGNT1 TSPAN1

Linked Data

• MyVariant Identifiers: chr1:g.46655659T>A (hg19) ; chr1:g.46189987T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46189987T>A , CM000663.2:g.46189987T>A	GRCh38
NC_000001.10:g.46655659T>A , CM000663.1:g.46655659T>A	GRCh37
NC_000001.9:g.46428246T>A	NCBI36
NG_009205.2:g.35319A>T
NG_009205.3:g.35319A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1652A>T (POMGNT1)	ENSP00000379698.4:p.Glu551Val
ENST00000497439.6:n.1824A>T (POMGNT1)
ENST00000684817.1:n.2012A>T (POMGNT1)
ENST00000684898.1:n.2214A>T (POMGNT1)
ENST00000685230.1:c.*962A>T (POMGNT1)	ENSP00000510305.1:n.*962A>T
ENST00000685275.1:n.2199A>T (POMGNT1)
ENST00000685444.1:c.1553A>T (POMGNT1)	ENSP00000510762.1:p.Glu518Val
ENST00000685704.1:n.2318A>T (POMGNT1)
ENST00000685833.1:n.4045A>T (POMGNT1)
ENST00000686252.1:n.2726A>T (POMGNT1)
ENST00000686379.1:c.*776A>T (POMGNT1)	ENSP00000508913.1:n.*776A>T
ENST00000686724.1:n.3339A>T (POMGNT1)
ENST00000686737.1:c.1652A>T (POMGNT1)	ENSP00000508736.1:p.Glu551Val
ENST00000687112.1:n.2518A>T (POMGNT1)
ENST00000687149.1:c.1691A>T (POMGNT1)	ENSP00000509745.1:p.Glu564Val
ENST00000687197.1:c.*592A>T (POMGNT1)	ENSP00000510749.1:n.*592A>T
ENST00000687235.1:n.3729A>T (POMGNT1)
ENST00000687613.1:n.2292A>T (POMGNT1)
ENST00000687683.1:c.1652A>T (POMGNT1)	ENSP00000508522.1:p.Glu551Val
ENST00000688032.1:n.2189A>T (POMGNT1)
ENST00000688596.1:n.2303A>T (POMGNT1)
ENST00000688608.1:c.1553A>T (POMGNT1)	ENSP00000508890.1:p.Glu518Val
ENST00000689031.1:n.2104A>T (POMGNT1)
ENST00000689756.1:c.*1284A>T (POMGNT1)	ENSP00000509023.1:n.*1284A>T
ENST00000690377.1:n.1999A>T (POMGNT1)
ENST00000690678.1:c.1652A>T (POMGNT1)	ENSP00000508703.1:p.Glu551Val
ENST00000691209.1:c.*592A>T (POMGNT1)	ENSP00000510112.1:n.*592A>T
ENST00000691243.1:c.*43A>T (POMGNT1)	ENSP00000510654.1:n.*43A>T
ENST00000692202.1:n.2227A>T (POMGNT1)
ENST00000692322.1:c.*1439A>T (POMGNT1)	ENSP00000509017.1:n.*1439A>T
ENST00000692369.1:c.1652A>T (POMGNT1)	ENSP00000508453.1:p.Glu551Val
ENST00000692599.1:n.3527A>T (POMGNT1)
ENST00000692635.1:c.*527A>T (POMGNT1)	ENSP00000508425.1:n.*527A>T
ENST00000693168.1:n.3428A>T (POMGNT1)
ENST00000693218.1:c.*213A>T (POMGNT1)	ENSP00000510577.1:n.*213A>T
ENST00000693223.1:n.2600A>T (POMGNT1)
ENST00000371984.8:c.1652A>T (POMGNT1) MANE Select	ENSP00000361052.3:p.Glu551Val
ENST00000371984.7:c.1652A>T (POMGNT1)	ENSP00000361052.3:p.Glu551Val
ENST00000371992.1:c.1652A>T (POMGNT1)	ENSP00000361060.1:p.Glu551Val
ENST00000396420.7:c.*1321A>T (POMGNT1)	ENSP00000379698.3:n.*1321A>T
ENST00000480972.1:n.301A>T (POMGNT1)
NM_001243766.1:c.1652A>T (POMGNT1)	NP_001230695.1:p.Glu551Val
NM_001290129.1:c.1586A>T (POMGNT1)	NP_001277058.1:p.Glu529Val
NM_001290130.1:c.1223A>T (POMGNT1)	NP_001277059.1:p.Glu408Val
NM_017739.3:c.1652A>T (POMGNT1)	NP_060209.3:p.Glu551Val
XM_005271010.1:c.1652A>T (POMGNT1)	XP_005271067.1:p.Glu551Val
XM_006710755.1:c.1652A>T (POMGNT1)	XP_006710818.1:p.Glu551Val
XM_006710756.1:c.1652A>T (POMGNT1)	XP_006710819.1:p.Glu551Val
XM_011540460.1:c.678+4679T>A (TSPAN1)	XP_011538762.1:n.678+4679T>A
XM_011540461.1:c.633+4679T>A (TSPAN1)	XP_011538763.1:n.633+4679T>A
XM_011541759.1:c.1586A>T (POMGNT1)	XP_011540061.1:p.Glu529Val
XM_011541760.1:c.1586A>T (POMGNT1)	XP_011540062.1:p.Glu529Val
XM_011541761.1:c.560A>T (POMGNT1)	XP_011540063.1:p.Glu187Val
XM_011540460.3:c.678+4679T>A (TSPAN1)	XP_011538762.1:n.678+4679T>A
XM_011541760.3:c.1586A>T (POMGNT1)	XP_011540062.1:p.Glu529Val
XM_017001690.1:c.1652A>T (POMGNT1)	XP_016857179.1:p.Glu551Val
NM_001243766.2:c.1652A>T (POMGNT1)	NP_001230695.2:p.Glu551Val
NM_001290129.2:c.1586A>T (POMGNT1)	NP_001277058.2:p.Glu529Val
NM_001290130.2:c.1223A>T (POMGNT1)	NP_001277059.2:p.Glu408Val
NM_017739.4:c.1652A>T (POMGNT1) MANE Select	NP_060209.4:p.Glu551Val