Canonical Allele Identifier: CA340171775

Gene: POMGNT1 TSPAN1

Linked Data

• gnomAD v4: 1-46190484-G-C
• MyVariant Identifiers: chr1:g.46656156G>C (hg19) ; chr1:g.46190484G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46190484G>C , CM000663.2:g.46190484G>C	GRCh38
NC_000001.10:g.46656156G>C , CM000663.1:g.46656156G>C	GRCh37
NC_000001.9:g.46428743G>C	NCBI36
NG_009205.2:g.34822C>G
NG_009205.3:g.34822C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1638C>G (POMGNT1)	ENSP00000379698.4:p.His546Gln
ENST00000477114.2:n.2200C>G (POMGNT1)
ENST00000497439.6:n.1810C>G (POMGNT1)
ENST00000684817.1:n.1998C>G (POMGNT1)
ENST00000684898.1:n.2200C>G (POMGNT1)
ENST00000685230.1:c.*948C>G (POMGNT1)	ENSP00000510305.1:n.*948C>G
ENST00000685275.1:n.2185C>G (POMGNT1)
ENST00000685444.1:c.1539C>G (POMGNT1)	ENSP00000510762.1:p.His513Gln
ENST00000685704.1:n.2304C>G (POMGNT1)
ENST00000685775.1:n.4680C>G (POMGNT1)
ENST00000685833.1:n.4031C>G (POMGNT1)
ENST00000686252.1:n.2712C>G (POMGNT1)
ENST00000686379.1:c.*762C>G (POMGNT1)	ENSP00000508913.1:n.*762C>G
ENST00000686724.1:n.3325C>G (POMGNT1)
ENST00000686737.1:c.1638C>G (POMGNT1)	ENSP00000508736.1:p.His546Gln
ENST00000687112.1:n.2504C>G (POMGNT1)
ENST00000687149.1:c.1677C>G (POMGNT1)	ENSP00000509745.1:p.His559Gln
ENST00000687197.1:c.*578C>G (POMGNT1)	ENSP00000510749.1:n.*578C>G
ENST00000687235.1:n.3715C>G (POMGNT1)
ENST00000687613.1:n.2290-495C>G (POMGNT1)
ENST00000687683.1:c.1638C>G (POMGNT1)	ENSP00000508522.1:p.His546Gln
ENST00000688032.1:n.2175C>G (POMGNT1)
ENST00000688596.1:n.2289C>G (POMGNT1)
ENST00000688608.1:c.1539C>G (POMGNT1)	ENSP00000508890.1:p.His513Gln
ENST00000688919.1:n.3036C>G (POMGNT1)
ENST00000689031.1:n.2102-495C>G (POMGNT1)
ENST00000689717.1:n.2012C>G (POMGNT1)
ENST00000689756.1:c.*1270C>G (POMGNT1)	ENSP00000509023.1:n.*1270C>G
ENST00000690377.1:n.1985C>G (POMGNT1)
ENST00000690678.1:c.1638C>G (POMGNT1)	ENSP00000508703.1:p.His546Gln
ENST00000691209.1:c.*578C>G (POMGNT1)	ENSP00000510112.1:n.*578C>G
ENST00000691243.1:c.*29C>G (POMGNT1)	ENSP00000510654.1:n.*29C>G
ENST00000692169.1:n.3302C>G (POMGNT1)
ENST00000692202.1:n.2213C>G (POMGNT1)
ENST00000692322.1:c.*1425C>G (POMGNT1)	ENSP00000509017.1:n.*1425C>G
ENST00000692369.1:c.1638C>G (POMGNT1)	ENSP00000508453.1:p.His546Gln
ENST00000692599.1:n.3513C>G (POMGNT1)
ENST00000692635.1:c.*513C>G (POMGNT1)	ENSP00000508425.1:n.*513C>G
ENST00000693168.1:n.3414C>G (POMGNT1)
ENST00000693218.1:c.*199C>G (POMGNT1)	ENSP00000510577.1:n.*199C>G
ENST00000693223.1:n.2586C>G (POMGNT1)
ENST00000693365.1:n.5787C>G (POMGNT1)
ENST00000371984.8:c.1638C>G (POMGNT1) MANE Select	ENSP00000361052.3:p.His546Gln
ENST00000371984.7:c.1638C>G (POMGNT1)	ENSP00000361052.3:p.His546Gln
ENST00000371992.1:c.1638C>G (POMGNT1)	ENSP00000361060.1:p.His546Gln
ENST00000396420.7:c.*1307C>G (POMGNT1)	ENSP00000379698.3:n.*1307C>G
ENST00000480972.1:n.287C>G (POMGNT1)
ENST00000485714.1:n.2539C>G (POMGNT1)
NM_001243766.1:c.1638C>G (POMGNT1)	NP_001230695.1:p.His546Gln
NM_001290129.1:c.1572C>G (POMGNT1)	NP_001277058.1:p.His524Gln
NM_001290130.1:c.1209C>G (POMGNT1)	NP_001277059.1:p.His403Gln
NM_017739.3:c.1638C>G (POMGNT1)	NP_060209.3:p.His546Gln
XM_005271010.1:c.1638C>G (POMGNT1)	XP_005271067.1:p.His546Gln
XM_006710755.1:c.1638C>G (POMGNT1)	XP_006710818.1:p.His546Gln
XM_006710756.1:c.1638C>G (POMGNT1)	XP_006710819.1:p.His546Gln
XM_011540460.1:c.678+5176G>C (TSPAN1)	XP_011538762.1:n.678+5176G>C
XM_011540461.1:c.633+5176G>C (TSPAN1)	XP_011538763.1:n.633+5176G>C
XM_011541759.1:c.1572C>G (POMGNT1)	XP_011540061.1:p.His524Gln
XM_011541760.1:c.1572C>G (POMGNT1)	XP_011540062.1:p.His524Gln
XM_011541761.1:c.546C>G (POMGNT1)	XP_011540063.1:p.His182Gln
XM_011540460.3:c.678+5176G>C (TSPAN1)	XP_011538762.1:n.678+5176G>C
XM_011541760.3:c.1572C>G (POMGNT1)	XP_011540062.1:p.His524Gln
XM_017001690.1:c.1638C>G (POMGNT1)	XP_016857179.1:p.His546Gln
NM_001243766.2:c.1638C>G (POMGNT1)	NP_001230695.2:p.His546Gln
NM_001290129.2:c.1572C>G (POMGNT1)	NP_001277058.2:p.His524Gln
NM_001290130.2:c.1209C>G (POMGNT1)	NP_001277059.2:p.His403Gln
NM_017739.4:c.1638C>G (POMGNT1) MANE Select	NP_060209.4:p.His546Gln