Canonical Allele Identifier: CA736239836

Gene: POMGNT1 TSPAN1

Linked Data

• dbSNP Id: rs1393216411
• gnomAD v3: 1-46189785-C-T
• gnomAD v4: 1-46189785-C-T
• MyVariant Identifiers: chr1:g.46655457C>T (hg19) ; chr1:g.46189785C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46189785C>T , CM000663.2:g.46189785C>T	GRCh38
NC_000001.10:g.46655457C>T , CM000663.1:g.46655457C>T	GRCh37
NC_000001.9:g.46428044C>T	NCBI36
NG_009205.2:g.35521G>A
NG_009205.3:g.35521G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1785+69G>A (POMGNT1)	ENSP00000379698.4:n.1785+69G>A
ENST00000497439.6:n.1957+69G>A (POMGNT1)
ENST00000684817.1:n.2145+69G>A (POMGNT1)
ENST00000684898.1:n.2347+69G>A (POMGNT1)
ENST00000685230.1:c.*1095+69G>A (POMGNT1)	ENSP00000510305.1:n.*1095+69G>A
ENST00000685275.1:n.2332+69G>A (POMGNT1)
ENST00000685444.1:c.1686+69G>A (POMGNT1)	ENSP00000510762.1:n.1686+69G>A
ENST00000685704.1:n.2451+69G>A (POMGNT1)
ENST00000685833.1:n.4178+69G>A (POMGNT1)
ENST00000686252.1:n.2859+69G>A (POMGNT1)
ENST00000686379.1:c.*909+69G>A (POMGNT1)	ENSP00000508913.1:n.*909+69G>A
ENST00000686724.1:n.3472+69G>A (POMGNT1)
ENST00000686737.1:c.1785+69G>A (POMGNT1)	ENSP00000508736.1:n.1785+69G>A
ENST00000687112.1:n.2651+69G>A (POMGNT1)
ENST00000687149.1:c.1824+69G>A (POMGNT1)	ENSP00000509745.1:n.1824+69G>A
ENST00000687197.1:c.*725+69G>A (POMGNT1)	ENSP00000510749.1:n.*725+69G>A
ENST00000687235.1:n.3862+69G>A (POMGNT1)
ENST00000687613.1:n.2425+69G>A (POMGNT1)
ENST00000687683.1:c.1785+69G>A (POMGNT1)	ENSP00000508522.1:n.1785+69G>A
ENST00000688032.1:n.2322+69G>A (POMGNT1)
ENST00000688596.1:n.2436+69G>A (POMGNT1)
ENST00000688608.1:c.1686+69G>A (POMGNT1)	ENSP00000508890.1:n.1686+69G>A
ENST00000689031.1:n.2237+69G>A (POMGNT1)
ENST00000689756.1:c.*1417+69G>A (POMGNT1)	ENSP00000509023.1:n.*1417+69G>A
ENST00000690377.1:n.2132+69G>A (POMGNT1)
ENST00000690678.1:c.1785+69G>A (POMGNT1)	ENSP00000508703.1:n.1785+69G>A
ENST00000691185.1:n.39G>A (POMGNT1)
ENST00000691209.1:c.*725+69G>A (POMGNT1)	ENSP00000510112.1:n.*725+69G>A
ENST00000691243.1:c.*176+69G>A (POMGNT1)	ENSP00000510654.1:n.*176+69G>A
ENST00000692202.1:n.2360+69G>A (POMGNT1)
ENST00000692322.1:c.*1572+69G>A (POMGNT1)	ENSP00000509017.1:n.*1572+69G>A
ENST00000692369.1:c.1785+69G>A (POMGNT1)	ENSP00000508453.1:n.1785+69G>A
ENST00000692599.1:n.3660+69G>A (POMGNT1)
ENST00000692635.1:c.*660+69G>A (POMGNT1)	ENSP00000508425.1:n.*660+69G>A
ENST00000693168.1:n.3561+69G>A (POMGNT1)
ENST00000693218.1:c.*346+69G>A (POMGNT1)	ENSP00000510577.1:n.*346+69G>A
ENST00000693223.1:n.2733+69G>A (POMGNT1)
ENST00000371984.8:c.1785+69G>A (POMGNT1) MANE Select	ENSP00000361052.3:n.1785+69G>A
ENST00000371984.7:c.1785+69G>A (POMGNT1)	ENSP00000361052.3:n.1785+69G>A
ENST00000371992.1:c.1785+69G>A (POMGNT1)	ENSP00000361060.1:n.1785+69G>A
ENST00000396420.7:c.*1454+69G>A (POMGNT1)	ENSP00000379698.3:n.*1454+69G>A
ENST00000480972.1:n.434+69G>A (POMGNT1)
NM_001243766.1:c.1785+69G>A (POMGNT1)	NP_001230695.1:n.1785+69G>A
NM_001290129.1:c.1719+69G>A (POMGNT1)	NP_001277058.1:n.1719+69G>A
NM_001290130.1:c.1356+69G>A (POMGNT1)	NP_001277059.1:n.1356+69G>A
NM_017739.3:c.1785+69G>A (POMGNT1)	NP_060209.3:n.1785+69G>A
XM_005271010.1:c.1785+69G>A (POMGNT1)	XP_005271067.1:n.1785+69G>A
XM_006710755.1:c.1785+69G>A (POMGNT1)	XP_006710818.1:n.1785+69G>A
XM_006710756.1:c.1785+69G>A (POMGNT1)	XP_006710819.1:n.1785+69G>A
XM_011540460.1:c.678+4477C>T (TSPAN1)	XP_011538762.1:n.678+4477C>T
XM_011540461.1:c.633+4477C>T (TSPAN1)	XP_011538763.1:n.633+4477C>T
XM_011541759.1:c.1719+69G>A (POMGNT1)	XP_011540061.1:n.1719+69G>A
XM_011541760.1:c.1719+69G>A (POMGNT1)	XP_011540062.1:n.1719+69G>A
XM_011541761.1:c.693+69G>A (POMGNT1)	XP_011540063.1:n.693+69G>A
XM_011540460.3:c.678+4477C>T (TSPAN1)	XP_011538762.1:n.678+4477C>T
XM_011541760.3:c.1719+69G>A (POMGNT1)	XP_011540062.1:n.1719+69G>A
XM_017001690.1:c.1785+69G>A (POMGNT1)	XP_016857179.1:n.1785+69G>A
NM_001243766.2:c.1785+69G>A (POMGNT1)	NP_001230695.2:n.1785+69G>A
NM_001290129.2:c.1719+69G>A (POMGNT1)	NP_001277058.2:n.1719+69G>A
NM_001290130.2:c.1356+69G>A (POMGNT1)	NP_001277059.2:n.1356+69G>A
NM_017739.4:c.1785+69G>A (POMGNT1) MANE Select	NP_060209.4:n.1785+69G>A