Canonical Allele Identifier: CA417886272

Gene: POMGNT1 TSPAN1

Linked Data

• ClinVar Variation Id: 1656355
• ClinVar RCV Id: RCV002161727
• dbSNP Id: rs2148187177
• gnomAD v4: 1-46192521-G-A
• MyVariant Identifiers: chr1:g.46658193G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46192521G>A , CM000663.2:g.46192521G>A	GRCh38
NC_000001.10:g.46658193G>A , CM000663.1:g.46658193G>A	GRCh37
NC_000001.9:g.46430780G>A	NCBI36
NG_009205.2:g.32785C>T
NG_009205.3:g.32785C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1281C>T (POMGNT1)	ENSP00000379698.4:p.Asp427=
ENST00000477114.2:n.1843C>T (POMGNT1)
ENST00000497439.6:n.1453C>T (POMGNT1)
ENST00000684817.1:n.1641C>T (POMGNT1)
ENST00000684898.1:n.1843C>T (POMGNT1)
ENST00000685230.1:c.*591C>T (POMGNT1)	ENSP00000510305.1:n.*591C>T
ENST00000685275.1:n.1828C>T (POMGNT1)
ENST00000685444.1:c.1182C>T (POMGNT1)	ENSP00000510762.1:p.Asp394=
ENST00000685704.1:n.1843C>T (POMGNT1)
ENST00000685775.1:n.2808C>T (POMGNT1)
ENST00000685833.1:n.2159C>T (POMGNT1)
ENST00000686252.1:n.2355C>T (POMGNT1)
ENST00000686379.1:c.*405C>T (POMGNT1)	ENSP00000508913.1:n.*405C>T
ENST00000686724.1:n.1453C>T (POMGNT1)
ENST00000686737.1:c.1281C>T (POMGNT1)	ENSP00000508736.1:p.Asp427=
ENST00000687112.1:n.2147C>T (POMGNT1)
ENST00000687149.1:c.1281C>T (POMGNT1)	ENSP00000509745.1:p.Asp427=
ENST00000687197.1:c.*221C>T (POMGNT1)	ENSP00000510749.1:n.*221C>T
ENST00000687235.1:n.1843C>T (POMGNT1)
ENST00000687613.1:n.2031C>T (POMGNT1)
ENST00000687683.1:c.1281C>T (POMGNT1)	ENSP00000508522.1:p.Asp427=
ENST00000688032.1:n.1843C>T (POMGNT1)
ENST00000688596.1:n.1932C>T (POMGNT1)
ENST00000688608.1:c.1182C>T (POMGNT1)	ENSP00000508890.1:p.Asp394=
ENST00000688919.1:n.2477C>T (POMGNT1)
ENST00000689031.1:n.1843C>T (POMGNT1)
ENST00000689717.1:n.1453C>T (POMGNT1)
ENST00000689756.1:c.*913C>T (POMGNT1)	ENSP00000509023.1:n.*913C>T
ENST00000690377.1:n.1628C>T (POMGNT1)
ENST00000690678.1:c.1281C>T (POMGNT1)	ENSP00000508703.1:p.Asp427=
ENST00000691209.1:c.*221C>T (POMGNT1)	ENSP00000510112.1:n.*221C>T
ENST00000691243.1:c.1281C>T (POMGNT1)	ENSP00000510654.1:p.Asp427=
ENST00000692169.1:n.1430C>T (POMGNT1)
ENST00000692202.1:n.1856C>T (POMGNT1)
ENST00000692322.1:c.*1133C>T (POMGNT1)	ENSP00000509017.1:n.*1133C>T
ENST00000692369.1:c.1281C>T (POMGNT1)	ENSP00000508453.1:p.Asp427=
ENST00000692599.1:n.1843C>T (POMGNT1)
ENST00000692635.1:c.*221C>T (POMGNT1)	ENSP00000508425.1:n.*221C>T
ENST00000693168.1:n.1542C>T (POMGNT1)
ENST00000693218.1:c.1281C>T (POMGNT1)	ENSP00000510577.1:p.Asp427=
ENST00000693223.1:n.2229C>T (POMGNT1)
ENST00000693365.1:n.3915C>T (POMGNT1)
ENST00000371984.8:c.1281C>T (POMGNT1) MANE Select	ENSP00000361052.3:p.Asp427=
ENST00000371984.7:c.1281C>T (POMGNT1)	ENSP00000361052.3:p.Asp427=
ENST00000371992.1:c.1281C>T (POMGNT1)	ENSP00000361060.1:p.Asp427=
ENST00000396420.7:c.*950C>T (POMGNT1)	ENSP00000379698.3:n.*950C>T
ENST00000485714.1:n.667C>T (POMGNT1)
NM_001243766.1:c.1281C>T (POMGNT1)	NP_001230695.1:p.Asp427=
NM_001290129.1:c.1215C>T (POMGNT1)	NP_001277058.1:p.Asp405=
NM_001290130.1:c.852C>T (POMGNT1)	NP_001277059.1:p.Asp284=
NM_017739.3:c.1281C>T (POMGNT1)	NP_060209.3:p.Asp427=
XM_005271010.1:c.1281C>T (POMGNT1)	XP_005271067.1:p.Asp427=
XM_006710755.1:c.1281C>T (POMGNT1)	XP_006710818.1:p.Asp427=
XM_006710756.1:c.1281C>T (POMGNT1)	XP_006710819.1:p.Asp427=
XM_011540460.1:c.679-3681G>A (TSPAN1)	XP_011538762.1:n.679-3681G>A
XM_011540461.1:c.634-3681G>A (TSPAN1)	XP_011538763.1:n.634-3681G>A
XM_011541759.1:c.1215C>T (POMGNT1)	XP_011540061.1:p.Asp405=
XM_011541760.1:c.1215C>T (POMGNT1)	XP_011540062.1:p.Asp405=
XM_011541761.1:c.189C>T (POMGNT1)	XP_011540063.1:p.Asp63=
XR_946706.1:n.1441C>T (POMGNT1)
XM_011540460.3:c.679-3681G>A (TSPAN1)	XP_011538762.1:n.679-3681G>A
XM_011541760.3:c.1215C>T (POMGNT1)	XP_011540062.1:p.Asp405=
XM_017001690.1:c.1281C>T (POMGNT1)	XP_016857179.1:p.Asp427=
NM_001243766.2:c.1281C>T (POMGNT1)	NP_001230695.2:p.Asp427=
NM_001290129.2:c.1215C>T (POMGNT1)	NP_001277058.2:p.Asp405=
NM_001290130.2:c.852C>T (POMGNT1)	NP_001277059.2:p.Asp284=
NM_017739.4:c.1281C>T (POMGNT1) MANE Select	NP_060209.4:p.Asp427=