Canonical Allele Identifier: CA234712

Gene: POMGNT1 TSPAN1

Linked Data

• ClinVar Variation Id: 167526
• ClinVar RCV Id: RCV000153761 ; RCV000622475 ; RCV002516093 ; RCV002516092 ; RCV003888594
• dbSNP Id: rs573518562
• ExAC: 1:46657819 C / T
• gnomAD v2: 1-46657819-C-T
• gnomAD v3: 1-46192147-C-T
• gnomAD v4: 1-46192147-C-T
• MyVariant Identifiers: chr1:g.46657819C>T (hg19) ; chr1:g.46192147C>T (hg38)
• PubMed: PMID:17878207 ; PMID:18195152 ; PMID:22419172 ; PMID:24120487 ; PMID:26908613 ; PMID:27391550

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46192147C>T , CM000663.2:g.46192147C>T	GRCh38
NC_000001.10:g.46657819C>T , CM000663.1:g.46657819C>T	GRCh37
NC_000001.9:g.46430406C>T	NCBI36
NG_009205.2:g.33159G>A
NG_009205.3:g.33159G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1490G>A (POMGNT1)	ENSP00000379698.4:p.Arg497Gln
ENST00000477114.2:n.2052G>A (POMGNT1)
ENST00000497439.6:n.1662G>A (POMGNT1)
ENST00000684817.1:n.1850G>A (POMGNT1)
ENST00000684898.1:n.2052G>A (POMGNT1)
ENST00000685230.1:c.*800G>A (POMGNT1)	ENSP00000510305.1:n.*800G>A
ENST00000685275.1:n.2037G>A (POMGNT1)
ENST00000685444.1:c.1391G>A (POMGNT1)	ENSP00000510762.1:p.Arg464Gln
ENST00000685704.1:n.2052G>A (POMGNT1)
ENST00000685775.1:n.3017G>A (POMGNT1)
ENST00000685833.1:n.2368G>A (POMGNT1)
ENST00000686252.1:n.2564G>A (POMGNT1)
ENST00000686379.1:c.*614G>A (POMGNT1)	ENSP00000508913.1:n.*614G>A
ENST00000686724.1:n.1662G>A (POMGNT1)
ENST00000686737.1:c.1490G>A (POMGNT1)	ENSP00000508736.1:p.Arg497Gln
ENST00000687112.1:n.2356G>A (POMGNT1)
ENST00000687149.1:c.1490G>A (POMGNT1)	ENSP00000509745.1:p.Arg497Gln
ENST00000687197.1:c.*430G>A (POMGNT1)	ENSP00000510749.1:n.*430G>A
ENST00000687235.1:n.2052G>A (POMGNT1)
ENST00000687613.1:n.2240G>A (POMGNT1)
ENST00000687683.1:c.1490G>A (POMGNT1)	ENSP00000508522.1:p.Arg497Gln
ENST00000688032.1:n.2052G>A (POMGNT1)
ENST00000688596.1:n.2141G>A (POMGNT1)
ENST00000688608.1:c.1391G>A (POMGNT1)	ENSP00000508890.1:p.Arg464Gln
ENST00000688919.1:n.2686G>A (POMGNT1)
ENST00000689031.1:n.2052G>A (POMGNT1)
ENST00000689717.1:n.1662G>A (POMGNT1)
ENST00000689756.1:c.*1122G>A (POMGNT1)	ENSP00000509023.1:n.*1122G>A
ENST00000690377.1:n.1837G>A (POMGNT1)
ENST00000690678.1:c.1490G>A (POMGNT1)	ENSP00000508703.1:p.Arg497Gln
ENST00000691209.1:c.*430G>A (POMGNT1)	ENSP00000510112.1:n.*430G>A
ENST00000691243.1:c.1490G>A (POMGNT1)	ENSP00000510654.1:p.Arg497Gln
ENST00000692169.1:n.1639G>A (POMGNT1)
ENST00000692202.1:n.2065G>A (POMGNT1)
ENST00000692322.1:c.*1342G>A (POMGNT1)	ENSP00000509017.1:n.*1342G>A
ENST00000692369.1:c.1490G>A (POMGNT1)	ENSP00000508453.1:p.Arg497Gln
ENST00000692599.1:n.2052G>A (POMGNT1)
ENST00000692635.1:c.*430G>A (POMGNT1)	ENSP00000508425.1:n.*430G>A
ENST00000693168.1:n.1751G>A (POMGNT1)
ENST00000693218.1:c.1490G>A (POMGNT1)	ENSP00000510577.1:p.Arg497Gln
ENST00000693223.1:n.2438G>A (POMGNT1)
ENST00000693365.1:n.4124G>A (POMGNT1)
ENST00000371984.8:c.1490G>A (POMGNT1) MANE Select	ENSP00000361052.3:p.Arg497Gln
ENST00000371984.7:c.1490G>A (POMGNT1)	ENSP00000361052.3:p.Arg497Gln
ENST00000371992.1:c.1490G>A (POMGNT1)	ENSP00000361060.1:p.Arg497Gln
ENST00000396420.7:c.*1159G>A (POMGNT1)	ENSP00000379698.3:n.*1159G>A
ENST00000463030.1:n.111G>A (POMGNT1)
ENST00000485714.1:n.876G>A (POMGNT1)
NM_001243766.1:c.1490G>A (POMGNT1)	NP_001230695.1:p.Arg497Gln
NM_001290129.1:c.1424G>A (POMGNT1)	NP_001277058.1:p.Arg475Gln
NM_001290130.1:c.1061G>A (POMGNT1)	NP_001277059.1:p.Arg354Gln
NM_017739.3:c.1490G>A (POMGNT1)	NP_060209.3:p.Arg497Gln
XM_005271010.1:c.1490G>A (POMGNT1)	XP_005271067.1:p.Arg497Gln
XM_006710755.1:c.1490G>A (POMGNT1)	XP_006710818.1:p.Arg497Gln
XM_006710756.1:c.1490G>A (POMGNT1)	XP_006710819.1:p.Arg497Gln
XM_011540460.1:c.679-4055C>T (TSPAN1)	XP_011538762.1:n.679-4055C>T
XM_011540461.1:c.634-4055C>T (TSPAN1)	XP_011538763.1:n.634-4055C>T
XM_011541759.1:c.1424G>A (POMGNT1)	XP_011540061.1:p.Arg475Gln
XM_011541760.1:c.1424G>A (POMGNT1)	XP_011540062.1:p.Arg475Gln
XM_011541761.1:c.398G>A (POMGNT1)	XP_011540063.1:p.Arg133Gln
XR_946706.1:n.1650G>A (POMGNT1)
XM_011540460.3:c.679-4055C>T (TSPAN1)	XP_011538762.1:n.679-4055C>T
XM_011541760.3:c.1424G>A (POMGNT1)	XP_011540062.1:p.Arg475Gln
XM_017001690.1:c.1490G>A (POMGNT1)	XP_016857179.1:p.Arg497Gln
NM_001243766.2:c.1490G>A (POMGNT1)	NP_001230695.2:p.Arg497Gln
NM_001290129.2:c.1424G>A (POMGNT1)	NP_001277058.2:p.Arg475Gln
NM_001290130.2:c.1061G>A (POMGNT1)	NP_001277059.2:p.Arg354Gln
NM_017739.4:c.1490G>A (POMGNT1) MANE Select	NP_060209.4:p.Arg497Gln