Canonical Allele Identifier: CA1144228793

Gene: POMGNT1 TSPAN1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46189901G= , CM000663.2:g.46189901G=	GRCh38
NC_000001.10:g.46655573G= , CM000663.1:g.46655573G=	GRCh37
NC_000001.9:g.46428160G=	NCBI36
NG_009205.2:g.35405C=
NG_009205.3:g.35405C=

Transcript Alleles

HGVS	Amino-acid Change
NM_017739.4:c.1738C= (POMGNT1) MANE Select	NP_060209.4:p.Arg580=
ENST00000371984.8:c.1738C= (POMGNT1) MANE Select	ENSP00000361052.3:p.Arg580=
NM_001243766.1:c.1738C= (POMGNT1)	NP_001230695.1:p.Arg580=
NM_001243766.2:c.1738C= (POMGNT1)	NP_001230695.2:p.Arg580=
NM_001290129.1:c.1672C= (POMGNT1)	NP_001277058.1:p.Arg558=
NM_001290129.2:c.1672C= (POMGNT1)	NP_001277058.2:p.Arg558=
NM_001290130.1:c.1309C= (POMGNT1)	NP_001277059.1:p.Arg437=
NM_001290130.2:c.1309C= (POMGNT1)	NP_001277059.2:p.Arg437=
NM_017739.3:c.1738C= (POMGNT1)	NP_060209.3:p.Arg580=
ENST00000371984.7:c.1738C= (POMGNT1)	ENSP00000361052.3:p.Arg580=
ENST00000371992.1:c.1738C= (POMGNT1)	ENSP00000361060.1:p.Arg580=
ENST00000396420.7:c.*1407C= (POMGNT1)	ENSP00000379698.3:n.*1407C=
ENST00000396420.8:c.1738C= (POMGNT1)	ENSP00000379698.4:p.Arg580=
ENST00000480972.1:n.387C= (POMGNT1)
ENST00000497439.6:n.1910C= (POMGNT1)
ENST00000684817.1:n.2098C= (POMGNT1)
ENST00000684898.1:n.2300C= (POMGNT1)
ENST00000685230.1:c.*1048C= (POMGNT1)	ENSP00000510305.1:n.*1048C=
ENST00000685275.1:n.2285C= (POMGNT1)
ENST00000685444.1:c.1639C= (POMGNT1)	ENSP00000510762.1:p.Arg547=
ENST00000685704.1:n.2404C= (POMGNT1)
ENST00000685833.1:n.4131C= (POMGNT1)
ENST00000686252.1:n.2812C= (POMGNT1)
ENST00000686379.1:c.*862C= (POMGNT1)	ENSP00000508913.1:n.*862C=
ENST00000686724.1:n.3425C= (POMGNT1)
ENST00000686737.1:c.1738C= (POMGNT1)	ENSP00000508736.1:p.Arg580=
ENST00000687112.1:n.2604C= (POMGNT1)
ENST00000687149.1:c.1777C= (POMGNT1)	ENSP00000509745.1:p.Arg593=
ENST00000687197.1:c.*678C= (POMGNT1)	ENSP00000510749.1:n.*678C=
ENST00000687235.1:n.3815C= (POMGNT1)
ENST00000687613.1:n.2378C= (POMGNT1)
ENST00000687683.1:c.1738C= (POMGNT1)	ENSP00000508522.1:p.Arg580=
ENST00000688032.1:n.2275C= (POMGNT1)
ENST00000688596.1:n.2389C= (POMGNT1)
ENST00000688608.1:c.1639C= (POMGNT1)	ENSP00000508890.1:p.Arg547=
ENST00000689031.1:n.2190C= (POMGNT1)
ENST00000689756.1:c.*1370C= (POMGNT1)	ENSP00000509023.1:n.*1370C=
ENST00000690377.1:n.2085C= (POMGNT1)
ENST00000690678.1:c.1738C= (POMGNT1)	ENSP00000508703.1:p.Arg580=
ENST00000691209.1:c.*678C= (POMGNT1)	ENSP00000510112.1:n.*678C=
ENST00000691243.1:c.*129C= (POMGNT1)	ENSP00000510654.1:n.*129C=
ENST00000692202.1:n.2313C= (POMGNT1)
ENST00000692322.1:c.*1525C= (POMGNT1)	ENSP00000509017.1:n.*1525C=
ENST00000692369.1:c.1738C= (POMGNT1)	ENSP00000508453.1:p.Arg580=
ENST00000692599.1:n.3613C= (POMGNT1)
ENST00000692635.1:c.*613C= (POMGNT1)	ENSP00000508425.1:n.*613C=
ENST00000693168.1:n.3514C= (POMGNT1)
ENST00000693218.1:c.*299C= (POMGNT1)	ENSP00000510577.1:n.*299C=
ENST00000693223.1:n.2686C= (POMGNT1)
XM_005271010.1:c.1738C= (POMGNT1)	XP_005271067.1:p.Arg580=
XM_006710755.1:c.1738C= (POMGNT1)	XP_006710818.1:p.Arg580=
XM_006710756.1:c.1738C= (POMGNT1)	XP_006710819.1:p.Arg580=
XM_011540460.1:c.678+4593G= (TSPAN1)	XP_011538762.1:n.678+4593G=
XM_011540460.3:c.678+4593G= (TSPAN1)	XP_011538762.1:n.678+4593G=
XM_011540461.1:c.633+4593G= (TSPAN1)	XP_011538763.1:n.633+4593G=
XM_011541759.1:c.1672C= (POMGNT1)	XP_011540061.1:p.Arg558=
XM_011541760.1:c.1672C= (POMGNT1)	XP_011540062.1:p.Arg558=
XM_011541760.3:c.1672C= (POMGNT1)	XP_011540062.1:p.Arg558=
XM_011541761.1:c.646C= (POMGNT1)	XP_011540063.1:p.Arg216=
XM_017001690.1:c.1738C= (POMGNT1)	XP_016857179.1:p.Arg580=