Canonical Allele Identifier: CA833424

Gene: POMGNT1 TSPAN1

Linked Data

• dbSNP Id: rs750278547
• ExAC: 1:46658240 G / A
• gnomAD v2: 1-46658240-G-A
• gnomAD v4: 1-46192568-G-A
• MyVariant Identifiers: chr1:g.46658240G>A (hg19) ; chr1:g.46192568G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46192568G>A , CM000663.2:g.46192568G>A	GRCh38
NC_000001.10:g.46658240G>A , CM000663.1:g.46658240G>A	GRCh37
NC_000001.9:g.46430827G>A	NCBI36
NG_009205.2:g.32738C>T
NG_009205.3:g.32738C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1234C>T (POMGNT1)	ENSP00000379698.4:p.Leu412=
ENST00000477114.2:n.1796C>T (POMGNT1)
ENST00000497439.6:n.1406C>T (POMGNT1)
ENST00000684817.1:n.1594C>T (POMGNT1)
ENST00000684898.1:n.1796C>T (POMGNT1)
ENST00000685230.1:c.*544C>T (POMGNT1)	ENSP00000510305.1:n.*544C>T
ENST00000685275.1:n.1781C>T (POMGNT1)
ENST00000685444.1:c.1135C>T (POMGNT1)	ENSP00000510762.1:p.Leu379=
ENST00000685704.1:n.1796C>T (POMGNT1)
ENST00000685775.1:n.2761C>T (POMGNT1)
ENST00000685833.1:n.2112C>T (POMGNT1)
ENST00000686252.1:n.2308C>T (POMGNT1)
ENST00000686379.1:c.*358C>T (POMGNT1)	ENSP00000508913.1:n.*358C>T
ENST00000686724.1:n.1406C>T (POMGNT1)
ENST00000686737.1:c.1234C>T (POMGNT1)	ENSP00000508736.1:p.Leu412=
ENST00000687112.1:n.2100C>T (POMGNT1)
ENST00000687149.1:c.1234C>T (POMGNT1)	ENSP00000509745.1:p.Leu412=
ENST00000687197.1:c.*174C>T (POMGNT1)	ENSP00000510749.1:n.*174C>T
ENST00000687235.1:n.1796C>T (POMGNT1)
ENST00000687613.1:n.1984C>T (POMGNT1)
ENST00000687683.1:c.1234C>T (POMGNT1)	ENSP00000508522.1:p.Leu412=
ENST00000688032.1:n.1796C>T (POMGNT1)
ENST00000688596.1:n.1885C>T (POMGNT1)
ENST00000688608.1:c.1135C>T (POMGNT1)	ENSP00000508890.1:p.Leu379=
ENST00000688919.1:n.2430C>T (POMGNT1)
ENST00000689031.1:n.1796C>T (POMGNT1)
ENST00000689717.1:n.1406C>T (POMGNT1)
ENST00000689756.1:c.*866C>T (POMGNT1)	ENSP00000509023.1:n.*866C>T
ENST00000690377.1:n.1581C>T (POMGNT1)
ENST00000690678.1:c.1234C>T (POMGNT1)	ENSP00000508703.1:p.Leu412=
ENST00000691209.1:c.*174C>T (POMGNT1)	ENSP00000510112.1:n.*174C>T
ENST00000691243.1:c.1234C>T (POMGNT1)	ENSP00000510654.1:p.Leu412=
ENST00000692169.1:n.1383C>T (POMGNT1)
ENST00000692202.1:n.1809C>T (POMGNT1)
ENST00000692322.1:c.*1086C>T (POMGNT1)	ENSP00000509017.1:n.*1086C>T
ENST00000692369.1:c.1234C>T (POMGNT1)	ENSP00000508453.1:p.Leu412=
ENST00000692599.1:n.1796C>T (POMGNT1)
ENST00000692635.1:c.*174C>T (POMGNT1)	ENSP00000508425.1:n.*174C>T
ENST00000693168.1:n.1495C>T (POMGNT1)
ENST00000693218.1:c.1234C>T (POMGNT1)	ENSP00000510577.1:p.Leu412=
ENST00000693223.1:n.2182C>T (POMGNT1)
ENST00000693365.1:n.3868C>T (POMGNT1)
ENST00000371984.8:c.1234C>T (POMGNT1) MANE Select	ENSP00000361052.3:p.Leu412=
ENST00000371984.7:c.1234C>T (POMGNT1)	ENSP00000361052.3:p.Leu412=
ENST00000371992.1:c.1234C>T (POMGNT1)	ENSP00000361060.1:p.Leu412=
ENST00000396420.7:c.*903C>T (POMGNT1)	ENSP00000379698.3:n.*903C>T
ENST00000485714.1:n.620C>T (POMGNT1)
NM_001243766.1:c.1234C>T (POMGNT1)	NP_001230695.1:p.Leu412=
NM_001290129.1:c.1168C>T (POMGNT1)	NP_001277058.1:p.Leu390=
NM_001290130.1:c.805C>T (POMGNT1)	NP_001277059.1:p.Leu269=
NM_017739.3:c.1234C>T (POMGNT1)	NP_060209.3:p.Leu412=
XM_005271010.1:c.1234C>T (POMGNT1)	XP_005271067.1:p.Leu412=
XM_006710755.1:c.1234C>T (POMGNT1)	XP_006710818.1:p.Leu412=
XM_006710756.1:c.1234C>T (POMGNT1)	XP_006710819.1:p.Leu412=
XM_011540460.1:c.679-3634G>A (TSPAN1)	XP_011538762.1:n.679-3634G>A
XM_011540461.1:c.634-3634G>A (TSPAN1)	XP_011538763.1:n.634-3634G>A
XM_011541759.1:c.1168C>T (POMGNT1)	XP_011540061.1:p.Leu390=
XM_011541760.1:c.1168C>T (POMGNT1)	XP_011540062.1:p.Leu390=
XM_011541761.1:c.142C>T (POMGNT1)	XP_011540063.1:p.Leu48=
XR_946706.1:n.1394C>T (POMGNT1)
XM_011540460.3:c.679-3634G>A (TSPAN1)	XP_011538762.1:n.679-3634G>A
XM_011541760.3:c.1168C>T (POMGNT1)	XP_011540062.1:p.Leu390=
XM_017001690.1:c.1234C>T (POMGNT1)	XP_016857179.1:p.Leu412=
NM_001243766.2:c.1234C>T (POMGNT1)	NP_001230695.2:p.Leu412=
NM_001290129.2:c.1168C>T (POMGNT1)	NP_001277058.2:p.Leu390=
NM_001290130.2:c.805C>T (POMGNT1)	NP_001277059.2:p.Leu269=
NM_017739.4:c.1234C>T (POMGNT1) MANE Select	NP_060209.4:p.Leu412=