Canonical Allele Identifier: CA10602829

Gene: POMGNT1 TSPAN1

Linked Data

• ClinVar Variation Id: 280928
• ClinVar RCV Id: RCV000384080 ; RCV002519069
• dbSNP Id: rs200471699
• gnomAD v4: 1-46189458-G-C
• MyVariant Identifiers: chr1:g.46655130G>C (hg19) ; chr1:g.46189458G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46189458G>C , CM000663.2:g.46189458G>C	GRCh38
NC_000001.10:g.46655130G>C , CM000663.1:g.46655130G>C	GRCh37
NC_000001.9:g.46427717G>C	NCBI36
NG_009205.2:g.35848C>G
NG_009205.3:g.35848C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1895C>G (POMGNT1)	ENSP00000379698.4:p.Ser632Ter
ENST00000497439.6:n.2067C>G (POMGNT1)
ENST00000684817.1:n.2255C>G (POMGNT1)
ENST00000684898.1:n.2457C>G (POMGNT1)
ENST00000685230.1:c.*1205C>G (POMGNT1)	ENSP00000510305.1:n.*1205C>G
ENST00000685275.1:n.2442C>G (POMGNT1)
ENST00000685444.1:c.1796C>G (POMGNT1)	ENSP00000510762.1:p.Ser599Ter
ENST00000685704.1:n.2561C>G (POMGNT1)
ENST00000685833.1:n.4288C>G (POMGNT1)
ENST00000686252.1:n.2969C>G (POMGNT1)
ENST00000686379.1:c.*1019C>G (POMGNT1)	ENSP00000508913.1:n.*1019C>G
ENST00000686724.1:n.3582C>G (POMGNT1)
ENST00000686737.1:c.1895C>G (POMGNT1)	ENSP00000508736.1:p.Ser632Ter
ENST00000687112.1:n.2761C>G (POMGNT1)
ENST00000687149.1:c.1934C>G (POMGNT1)	ENSP00000509745.1:p.Ser645Ter
ENST00000687197.1:c.*835C>G (POMGNT1)	ENSP00000510749.1:n.*835C>G
ENST00000687235.1:n.3972C>G (POMGNT1)
ENST00000687613.1:n.2535C>G (POMGNT1)
ENST00000687683.1:c.1895C>G (POMGNT1)	ENSP00000508522.1:p.Ser632Ter
ENST00000688032.1:n.2432C>G (POMGNT1)
ENST00000688596.1:n.2546C>G (POMGNT1)
ENST00000688608.1:c.1796C>G (POMGNT1)	ENSP00000508890.1:p.Ser599Ter
ENST00000689031.1:n.2347C>G (POMGNT1)
ENST00000689756.1:c.*1527C>G (POMGNT1)	ENSP00000509023.1:n.*1527C>G
ENST00000690377.1:n.2242C>G (POMGNT1)
ENST00000690678.1:c.1895C>G (POMGNT1)	ENSP00000508703.1:p.Ser632Ter
ENST00000691185.1:n.366C>G (POMGNT1)
ENST00000691209.1:c.*835C>G (POMGNT1)	ENSP00000510112.1:n.*835C>G
ENST00000691243.1:c.*286C>G (POMGNT1)	ENSP00000510654.1:n.*286C>G
ENST00000692202.1:n.2470C>G (POMGNT1)
ENST00000692322.1:c.*1682C>G (POMGNT1)	ENSP00000509017.1:n.*1682C>G
ENST00000692369.1:c.1895C>G (POMGNT1)	ENSP00000508453.1:p.Ser632Trp
ENST00000692599.1:n.3770C>G (POMGNT1)
ENST00000692635.1:c.*770C>G (POMGNT1)	ENSP00000508425.1:n.*770C>G
ENST00000693168.1:n.3671C>G (POMGNT1)
ENST00000693218.1:c.*456C>G (POMGNT1)	ENSP00000510577.1:n.*456C>G
ENST00000693223.1:n.2843C>G (POMGNT1)
ENST00000371984.8:c.1895C>G (POMGNT1) MANE Select	ENSP00000361052.3:p.Ser632Ter
ENST00000371984.7:c.1895C>G (POMGNT1)	ENSP00000361052.3:p.Ser632Ter
ENST00000371992.1:c.1869+26C>G (POMGNT1)	ENSP00000361060.1:n.1869+26C>G
ENST00000396420.7:c.*1564C>G (POMGNT1)	ENSP00000379698.3:n.*1564C>G
ENST00000475642.1:n.110C>G (POMGNT1)
NM_001243766.1:c.1869+26C>G (POMGNT1)	NP_001230695.1:n.1869+26C>G
NM_001290129.1:c.1829C>G (POMGNT1)	NP_001277058.1:p.Ser610Ter
NM_001290130.1:c.1466C>G (POMGNT1)	NP_001277059.1:p.Ser489Ter
NM_017739.3:c.1895C>G (POMGNT1)	NP_060209.3:p.Ser632Ter
XM_005271010.1:c.1895C>G (POMGNT1)	XP_005271067.1:p.Ser632Trp
XM_006710755.1:c.1895C>G (POMGNT1)	XP_006710818.1:p.Ser632Trp
XM_006710756.1:c.1869+26C>G (POMGNT1)	XP_006710819.1:n.1869+26C>G
XM_011540460.1:c.678+4150G>C (TSPAN1)	XP_011538762.1:n.678+4150G>C
XM_011540461.1:c.633+4150G>C (TSPAN1)	XP_011538763.1:n.633+4150G>C
XM_011541759.1:c.1829C>G (POMGNT1)	XP_011540061.1:p.Ser610Trp
XM_011541760.1:c.1829C>G (POMGNT1)	XP_011540062.1:p.Ser610Ter
XM_011541761.1:c.803C>G (POMGNT1)	XP_011540063.1:p.Ser268Trp
XM_011540460.3:c.678+4150G>C (TSPAN1)	XP_011538762.1:n.678+4150G>C
XM_011541760.3:c.1829C>G (POMGNT1)	XP_011540062.1:p.Ser610Ter
XM_017001690.1:c.1895C>G (POMGNT1)	XP_016857179.1:p.Ser632Ter
NM_001243766.2:c.1869+26C>G (POMGNT1)	NP_001230695.2:n.1869+26C>G
NM_001290129.2:c.1829C>G (POMGNT1)	NP_001277058.2:p.Ser610Ter
NM_001290130.2:c.1466C>G (POMGNT1)	NP_001277059.2:p.Ser489Ter
NM_017739.4:c.1895C>G (POMGNT1) MANE Select	NP_060209.4:p.Ser632Ter