Canonical Allele Identifier: CA2474081171

Gene: POMGNT1 TSPAN1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46189956A= , CM000663.2:g.46189956A=	GRCh38
NC_000001.10:g.46655628A= , CM000663.1:g.46655628A=	GRCh37
NC_000001.9:g.46428215A=	NCBI36
NG_009205.2:g.35350T=
NG_009205.3:g.35350T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1683T= (POMGNT1)	ENSP00000379698.4:p.Pro561=
ENST00000497439.6:n.1855T= (POMGNT1)
ENST00000684817.1:n.2043T= (POMGNT1)
ENST00000684898.1:n.2245T= (POMGNT1)
ENST00000685230.1:c.*993T= (POMGNT1)	ENSP00000510305.1:n.*993T=
ENST00000685275.1:n.2230T= (POMGNT1)
ENST00000685444.1:c.1584T= (POMGNT1)	ENSP00000510762.1:p.Pro528=
ENST00000685704.1:n.2349T= (POMGNT1)
ENST00000685833.1:n.4076T= (POMGNT1)
ENST00000686252.1:n.2757T= (POMGNT1)
ENST00000686379.1:c.*807T= (POMGNT1)	ENSP00000508913.1:n.*807T=
ENST00000686724.1:n.3370T= (POMGNT1)
ENST00000686737.1:c.1683T= (POMGNT1)	ENSP00000508736.1:p.Pro561=
ENST00000687112.1:n.2549T= (POMGNT1)
ENST00000687149.1:c.1722T= (POMGNT1)	ENSP00000509745.1:p.Pro574=
ENST00000687197.1:c.*623T= (POMGNT1)	ENSP00000510749.1:n.*623T=
ENST00000687235.1:n.3760T= (POMGNT1)
ENST00000687613.1:n.2323T= (POMGNT1)
ENST00000687683.1:c.1683T= (POMGNT1)	ENSP00000508522.1:p.Pro561=
ENST00000688032.1:n.2220T= (POMGNT1)
ENST00000688596.1:n.2334T= (POMGNT1)
ENST00000688608.1:c.1584T= (POMGNT1)	ENSP00000508890.1:p.Pro528=
ENST00000689031.1:n.2135T= (POMGNT1)
ENST00000689756.1:c.*1315T= (POMGNT1)	ENSP00000509023.1:n.*1315T=
ENST00000690377.1:n.2030T= (POMGNT1)
ENST00000690678.1:c.1683T= (POMGNT1)	ENSP00000508703.1:p.Pro561=
ENST00000691209.1:c.*623T= (POMGNT1)	ENSP00000510112.1:n.*623T=
ENST00000691243.1:c.*74T= (POMGNT1)	ENSP00000510654.1:n.*74T=
ENST00000692202.1:n.2258T= (POMGNT1)
ENST00000692322.1:c.*1470T= (POMGNT1)	ENSP00000509017.1:n.*1470T=
ENST00000692369.1:c.1683T= (POMGNT1)	ENSP00000508453.1:p.Pro561=
ENST00000692599.1:n.3558T= (POMGNT1)
ENST00000692635.1:c.*558T= (POMGNT1)	ENSP00000508425.1:n.*558T=
ENST00000693168.1:n.3459T= (POMGNT1)
ENST00000693218.1:c.*244T= (POMGNT1)	ENSP00000510577.1:n.*244T=
ENST00000693223.1:n.2631T= (POMGNT1)
ENST00000371984.8:c.1683T= (POMGNT1) MANE Select	ENSP00000361052.3:p.Pro561=
ENST00000371984.7:c.1683T= (POMGNT1)	ENSP00000361052.3:p.Pro561=
ENST00000371992.1:c.1683T= (POMGNT1)	ENSP00000361060.1:p.Pro561=
ENST00000396420.7:c.*1352T= (POMGNT1)	ENSP00000379698.3:n.*1352T=
ENST00000480972.1:n.332T= (POMGNT1)
NM_001243766.1:c.1683T= (POMGNT1)	NP_001230695.1:p.Pro561=
NM_001290129.1:c.1617T= (POMGNT1)	NP_001277058.1:p.Pro539=
NM_001290130.1:c.1254T= (POMGNT1)	NP_001277059.1:p.Pro418=
NM_017739.3:c.1683T= (POMGNT1)	NP_060209.3:p.Pro561=
XM_005271010.1:c.1683T= (POMGNT1)	XP_005271067.1:p.Pro561=
XM_006710755.1:c.1683T= (POMGNT1)	XP_006710818.1:p.Pro561=
XM_006710756.1:c.1683T= (POMGNT1)	XP_006710819.1:p.Pro561=
XM_011540460.1:c.678+4648A= (TSPAN1)	XP_011538762.1:n.678+4648A=
XM_011540461.1:c.633+4648A= (TSPAN1)	XP_011538763.1:n.633+4648A=
XM_011541759.1:c.1617T= (POMGNT1)	XP_011540061.1:p.Pro539=
XM_011541760.1:c.1617T= (POMGNT1)	XP_011540062.1:p.Pro539=
XM_011541761.1:c.591T= (POMGNT1)	XP_011540063.1:p.Pro197=
XM_011540460.3:c.678+4648A= (TSPAN1)	XP_011538762.1:n.678+4648A=
XM_011541760.3:c.1617T= (POMGNT1)	XP_011540062.1:p.Pro539=
XM_017001690.1:c.1683T= (POMGNT1)	XP_016857179.1:p.Pro561=
NM_001243766.2:c.1683T= (POMGNT1)	NP_001230695.2:p.Pro561=
NM_001290129.2:c.1617T= (POMGNT1)	NP_001277058.2:p.Pro539=
NM_001290130.2:c.1254T= (POMGNT1)	NP_001277059.2:p.Pro418=
NM_017739.4:c.1683T= (POMGNT1) MANE Select	NP_060209.4:p.Pro561=