Canonical Allele Identifier: CA16040752

Gene: POMGNT1 TSPAN1

Linked Data

• ClinVar Variation Id: 370211
• ClinVar RCV Id: RCV000412480
• dbSNP Id: rs1057516318
• MyVariant Identifiers: chr1:g.46659944A>G (hg19) ; chr1:g.46194272A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46194272A>G , CM000663.2:g.46194272A>G	GRCh38
NC_000001.10:g.46659944A>G , CM000663.1:g.46659944A>G	GRCh37
NC_000001.9:g.46432531A>G	NCBI36
NG_009205.2:g.31034T>C
NG_009205.3:g.31034T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.879+2T>C (POMGNT1)	ENSP00000379698.4:n.879+2T>C
ENST00000477114.2:n.1051+2T>C (POMGNT1)
ENST00000497439.6:n.1051+2T>C (POMGNT1)
ENST00000684817.1:n.1239+2T>C (POMGNT1)
ENST00000684898.1:n.1051+2T>C (POMGNT1)
ENST00000685230.1:c.*158+2T>C (POMGNT1)	ENSP00000510305.1:n.*158+2T>C
ENST00000685275.1:n.1036+2T>C (POMGNT1)
ENST00000685444.1:c.780+2T>C (POMGNT1)	ENSP00000510762.1:n.780+2T>C
ENST00000685704.1:n.1051+2T>C (POMGNT1)
ENST00000685775.1:n.2016+2T>C (POMGNT1)
ENST00000685833.1:n.1367+2T>C (POMGNT1)
ENST00000686252.1:n.1953+2T>C (POMGNT1)
ENST00000686379.1:c.879+2T>C (POMGNT1)	ENSP00000508913.1:n.879+2T>C
ENST00000686724.1:n.1051+2T>C (POMGNT1)
ENST00000686737.1:c.879+2T>C (POMGNT1)	ENSP00000508736.1:n.879+2T>C
ENST00000687112.1:n.1051+2T>C (POMGNT1)
ENST00000687149.1:c.879+2T>C (POMGNT1)	ENSP00000509745.1:n.879+2T>C
ENST00000687197.1:c.879+2T>C (POMGNT1)	ENSP00000510749.1:n.879+2T>C
ENST00000687235.1:n.1051+2T>C (POMGNT1)
ENST00000687613.1:n.1239+2T>C (POMGNT1)
ENST00000687683.1:c.879+2T>C (POMGNT1)	ENSP00000508522.1:n.879+2T>C
ENST00000688032.1:n.1051+2T>C (POMGNT1)
ENST00000688596.1:n.1051+2T>C (POMGNT1)
ENST00000688608.1:c.780+2T>C (POMGNT1)	ENSP00000508890.1:n.780+2T>C
ENST00000688919.1:n.1685+2T>C (POMGNT1)
ENST00000689031.1:n.1051+2T>C (POMGNT1)
ENST00000689717.1:n.1051+2T>C (POMGNT1)
ENST00000689756.1:c.*511+2T>C (POMGNT1)	ENSP00000509023.1:n.*511+2T>C
ENST00000690377.1:n.1051+2T>C (POMGNT1)
ENST00000690678.1:c.879+2T>C (POMGNT1)	ENSP00000508703.1:n.879+2T>C
ENST00000691209.1:c.879+2T>C (POMGNT1)	ENSP00000510112.1:n.879+2T>C
ENST00000691243.1:c.879+2T>C (POMGNT1)	ENSP00000510654.1:n.879+2T>C
ENST00000692169.1:n.1051+2T>C (POMGNT1)
ENST00000692202.1:n.1239+2T>C (POMGNT1)
ENST00000692322.1:c.*731+2T>C (POMGNT1)	ENSP00000509017.1:n.*731+2T>C
ENST00000692369.1:c.879+2T>C (POMGNT1)	ENSP00000508453.1:n.879+2T>C
ENST00000692599.1:n.1051+2T>C (POMGNT1)
ENST00000692635.1:c.879+2T>C (POMGNT1)	ENSP00000508425.1:n.879+2T>C
ENST00000693168.1:n.1051+2T>C (POMGNT1)
ENST00000693218.1:c.879+2T>C (POMGNT1)	ENSP00000510577.1:n.879+2T>C
ENST00000693223.1:n.1523+2T>C (POMGNT1)
ENST00000693365.1:n.2819+2T>C (POMGNT1)
ENST00000371984.8:c.879+2T>C (POMGNT1) MANE Select	ENSP00000361052.3:n.879+2T>C
ENST00000371984.7:c.879+2T>C (POMGNT1)	ENSP00000361052.3:n.879+2T>C
ENST00000371992.1:c.879+2T>C (POMGNT1)	ENSP00000361060.1:n.879+2T>C
ENST00000396420.7:c.*158+2T>C (POMGNT1)	ENSP00000379698.3:n.*158+2T>C
ENST00000477114.1:n.227+2T>C (POMGNT1)
NM_001243766.1:c.879+2T>C (POMGNT1)	NP_001230695.1:n.879+2T>C
NM_001290129.1:c.813+2T>C (POMGNT1)	NP_001277058.1:n.813+2T>C
NM_001290130.1:c.450+2T>C (POMGNT1)	NP_001277059.1:n.450+2T>C
NM_017739.3:c.879+2T>C (POMGNT1)	NP_060209.3:n.879+2T>C
XM_005271010.1:c.879+2T>C (POMGNT1)	XP_005271067.1:n.879+2T>C
XM_006710755.1:c.879+2T>C (POMGNT1)	XP_006710818.1:n.879+2T>C
XM_006710756.1:c.879+2T>C (POMGNT1)	XP_006710819.1:n.879+2T>C
XM_011540460.1:c.679-1930A>G (TSPAN1)	XP_011538762.1:n.679-1930A>G
XM_011540461.1:c.634-1930A>G (TSPAN1)	XP_011538763.1:n.634-1930A>G
XM_011541759.1:c.813+2T>C (POMGNT1)	XP_011540061.1:n.813+2T>C
XM_011541760.1:c.813+2T>C (POMGNT1)	XP_011540062.1:n.813+2T>C
XM_011541761.1:c.-215+2T>C (POMGNT1)	XP_011540063.1:n.-215+2T>C
XR_946706.1:n.1038+2T>C (POMGNT1)
XM_011540460.3:c.679-1930A>G (TSPAN1)	XP_011538762.1:n.679-1930A>G
XM_011541760.3:c.813+2T>C (POMGNT1)	XP_011540062.1:n.813+2T>C
XM_017001690.1:c.879+2T>C (POMGNT1)	XP_016857179.1:n.879+2T>C
NM_001243766.2:c.879+2T>C (POMGNT1)	NP_001230695.2:n.879+2T>C
NM_001290129.2:c.813+2T>C (POMGNT1)	NP_001277058.2:n.813+2T>C
NM_001290130.2:c.450+2T>C (POMGNT1)	NP_001277059.2:n.450+2T>C
NM_017739.4:c.879+2T>C (POMGNT1) MANE Select	NP_060209.4:n.879+2T>C