Canonical Allele Identifier: CA417886236

Gene: POMGNT1 TSPAN1

Linked Data

• ClinVar Variation Id: 2938380
• ClinVar RCV Id: RCV003797202
• MyVariant Identifiers: chr1:g.46658061C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46192389C>T , CM000663.2:g.46192389C>T	GRCh38
NC_000001.10:g.46658061C>T , CM000663.1:g.46658061C>T	GRCh37
NC_000001.9:g.46430648C>T	NCBI36
NG_009205.2:g.32917G>A
NG_009205.3:g.32917G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000396420.8:c.1332G>A (POMGNT1)	ENSP00000379698.4:p.Glu444=
ENST00000477114.2:n.1894G>A (POMGNT1)
ENST00000497439.6:n.1504G>A (POMGNT1)
ENST00000684817.1:n.1692G>A (POMGNT1)
ENST00000684898.1:n.1894G>A (POMGNT1)
ENST00000685230.1:c.*642G>A (POMGNT1)	ENSP00000510305.1:n.*642G>A
ENST00000685275.1:n.1879G>A (POMGNT1)
ENST00000685444.1:c.1233G>A (POMGNT1)	ENSP00000510762.1:p.Glu411=
ENST00000685704.1:n.1894G>A (POMGNT1)
ENST00000685775.1:n.2859G>A (POMGNT1)
ENST00000685833.1:n.2210G>A (POMGNT1)
ENST00000686252.1:n.2406G>A (POMGNT1)
ENST00000686379.1:c.*456G>A (POMGNT1)	ENSP00000508913.1:n.*456G>A
ENST00000686724.1:n.1504G>A (POMGNT1)
ENST00000686737.1:c.1332G>A (POMGNT1)	ENSP00000508736.1:p.Glu444=
ENST00000687112.1:n.2198G>A (POMGNT1)
ENST00000687149.1:c.1332G>A (POMGNT1)	ENSP00000509745.1:p.Glu444=
ENST00000687197.1:c.*272G>A (POMGNT1)	ENSP00000510749.1:n.*272G>A
ENST00000687235.1:n.1894G>A (POMGNT1)
ENST00000687613.1:n.2082G>A (POMGNT1)
ENST00000687683.1:c.1332G>A (POMGNT1)	ENSP00000508522.1:p.Glu444=
ENST00000688032.1:n.1894G>A (POMGNT1)
ENST00000688596.1:n.1983G>A (POMGNT1)
ENST00000688608.1:c.1233G>A (POMGNT1)	ENSP00000508890.1:p.Glu411=
ENST00000688919.1:n.2528G>A (POMGNT1)
ENST00000689031.1:n.1894G>A (POMGNT1)
ENST00000689717.1:n.1504G>A (POMGNT1)
ENST00000689756.1:c.*964G>A (POMGNT1)	ENSP00000509023.1:n.*964G>A
ENST00000690377.1:n.1679G>A (POMGNT1)
ENST00000690678.1:c.1332G>A (POMGNT1)	ENSP00000508703.1:p.Glu444=
ENST00000691209.1:c.*272G>A (POMGNT1)	ENSP00000510112.1:n.*272G>A
ENST00000691243.1:c.1332G>A (POMGNT1)	ENSP00000510654.1:p.Glu444=
ENST00000692169.1:n.1481G>A (POMGNT1)
ENST00000692202.1:n.1907G>A (POMGNT1)
ENST00000692322.1:c.*1184G>A (POMGNT1)	ENSP00000509017.1:n.*1184G>A
ENST00000692369.1:c.1332G>A (POMGNT1)	ENSP00000508453.1:p.Glu444=
ENST00000692599.1:n.1894G>A (POMGNT1)
ENST00000692635.1:c.*272G>A (POMGNT1)	ENSP00000508425.1:n.*272G>A
ENST00000693168.1:n.1593G>A (POMGNT1)
ENST00000693218.1:c.1332G>A (POMGNT1)	ENSP00000510577.1:p.Glu444=
ENST00000693223.1:n.2280G>A (POMGNT1)
ENST00000693365.1:n.3966G>A (POMGNT1)
ENST00000371984.8:c.1332G>A (POMGNT1) MANE Select	ENSP00000361052.3:p.Glu444=
ENST00000371984.7:c.1332G>A (POMGNT1)	ENSP00000361052.3:p.Glu444=
ENST00000371992.1:c.1332G>A (POMGNT1)	ENSP00000361060.1:p.Glu444=
ENST00000396420.7:c.*1001G>A (POMGNT1)	ENSP00000379698.3:n.*1001G>A
ENST00000485714.1:n.718G>A (POMGNT1)
NM_001243766.1:c.1332G>A (POMGNT1)	NP_001230695.1:p.Glu444=
NM_001290129.1:c.1266G>A (POMGNT1)	NP_001277058.1:p.Glu422=
NM_001290130.1:c.903G>A (POMGNT1)	NP_001277059.1:p.Glu301=
NM_017739.3:c.1332G>A (POMGNT1)	NP_060209.3:p.Glu444=
XM_005271010.1:c.1332G>A (POMGNT1)	XP_005271067.1:p.Glu444=
XM_006710755.1:c.1332G>A (POMGNT1)	XP_006710818.1:p.Glu444=
XM_006710756.1:c.1332G>A (POMGNT1)	XP_006710819.1:p.Glu444=
XM_011540460.1:c.679-3813C>T (TSPAN1)	XP_011538762.1:n.679-3813C>T
XM_011540461.1:c.634-3813C>T (TSPAN1)	XP_011538763.1:n.634-3813C>T
XM_011541759.1:c.1266G>A (POMGNT1)	XP_011540061.1:p.Glu422=
XM_011541760.1:c.1266G>A (POMGNT1)	XP_011540062.1:p.Glu422=
XM_011541761.1:c.240G>A (POMGNT1)	XP_011540063.1:p.Glu80=
XR_946706.1:n.1492G>A (POMGNT1)
XM_011540460.3:c.679-3813C>T (TSPAN1)	XP_011538762.1:n.679-3813C>T
XM_011541760.3:c.1266G>A (POMGNT1)	XP_011540062.1:p.Glu422=
XM_017001690.1:c.1332G>A (POMGNT1)	XP_016857179.1:p.Glu444=
NM_001243766.2:c.1332G>A (POMGNT1)	NP_001230695.2:p.Glu444=
NM_001290129.2:c.1266G>A (POMGNT1)	NP_001277058.2:p.Glu422=
NM_001290130.2:c.903G>A (POMGNT1)	NP_001277059.2:p.Glu301=
NM_017739.4:c.1332G>A (POMGNT1) MANE Select	NP_060209.4:p.Glu444=