Canonical Allele Identifier: CA2474081403

Gene: POMGNT1 TSPAN1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46190501A= , CM000663.2:g.46190501A=	GRCh38
NC_000001.10:g.46656173A= , CM000663.1:g.46656173A=	GRCh37
NC_000001.9:g.46428760A=	NCBI36
NG_009205.2:g.34805T=
NG_009205.3:g.34805T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1621T= (POMGNT1)	ENSP00000379698.4:p.Tyr541=
ENST00000477114.2:n.2183T= (POMGNT1)
ENST00000497439.6:n.1793T= (POMGNT1)
ENST00000684817.1:n.1981T= (POMGNT1)
ENST00000684898.1:n.2183T= (POMGNT1)
ENST00000685230.1:c.*931T= (POMGNT1)	ENSP00000510305.1:n.*931T=
ENST00000685275.1:n.2168T= (POMGNT1)
ENST00000685444.1:c.1522T= (POMGNT1)	ENSP00000510762.1:p.Tyr508=
ENST00000685704.1:n.2287T= (POMGNT1)
ENST00000685775.1:n.4663T= (POMGNT1)
ENST00000685833.1:n.4014T= (POMGNT1)
ENST00000686252.1:n.2695T= (POMGNT1)
ENST00000686379.1:c.*745T= (POMGNT1)	ENSP00000508913.1:n.*745T=
ENST00000686724.1:n.3308T= (POMGNT1)
ENST00000686737.1:c.1621T= (POMGNT1)	ENSP00000508736.1:p.Tyr541=
ENST00000687112.1:n.2487T= (POMGNT1)
ENST00000687149.1:c.1660T= (POMGNT1)	ENSP00000509745.1:p.Tyr554=
ENST00000687197.1:c.*561T= (POMGNT1)	ENSP00000510749.1:n.*561T=
ENST00000687235.1:n.3698T= (POMGNT1)
ENST00000687613.1:n.2290-512T= (POMGNT1)
ENST00000687683.1:c.1621T= (POMGNT1)	ENSP00000508522.1:p.Tyr541=
ENST00000688032.1:n.2158T= (POMGNT1)
ENST00000688596.1:n.2272T= (POMGNT1)
ENST00000688608.1:c.1522T= (POMGNT1)	ENSP00000508890.1:p.Tyr508=
ENST00000688919.1:n.3019T= (POMGNT1)
ENST00000689031.1:n.2102-512T= (POMGNT1)
ENST00000689717.1:n.1995T= (POMGNT1)
ENST00000689756.1:c.*1253T= (POMGNT1)	ENSP00000509023.1:n.*1253T=
ENST00000690377.1:n.1968T= (POMGNT1)
ENST00000690678.1:c.1621T= (POMGNT1)	ENSP00000508703.1:p.Tyr541=
ENST00000691209.1:c.*561T= (POMGNT1)	ENSP00000510112.1:n.*561T=
ENST00000691243.1:c.*12T= (POMGNT1)	ENSP00000510654.1:n.*12T=
ENST00000692169.1:n.3285T= (POMGNT1)
ENST00000692202.1:n.2196T= (POMGNT1)
ENST00000692322.1:c.*1408T= (POMGNT1)	ENSP00000509017.1:n.*1408T=
ENST00000692369.1:c.1621T= (POMGNT1)	ENSP00000508453.1:p.Tyr541=
ENST00000692599.1:n.3496T= (POMGNT1)
ENST00000692635.1:c.*496T= (POMGNT1)	ENSP00000508425.1:n.*496T=
ENST00000693168.1:n.3397T= (POMGNT1)
ENST00000693218.1:c.*182T= (POMGNT1)	ENSP00000510577.1:n.*182T=
ENST00000693223.1:n.2569T= (POMGNT1)
ENST00000693365.1:n.5770T= (POMGNT1)
ENST00000371984.8:c.1621T= (POMGNT1) MANE Select	ENSP00000361052.3:p.Tyr541=
ENST00000371984.7:c.1621T= (POMGNT1)	ENSP00000361052.3:p.Tyr541=
ENST00000371992.1:c.1621T= (POMGNT1)	ENSP00000361060.1:p.Tyr541=
ENST00000396420.7:c.*1290T= (POMGNT1)	ENSP00000379698.3:n.*1290T=
ENST00000480972.1:n.270T= (POMGNT1)
ENST00000485714.1:n.2522T= (POMGNT1)
NM_001243766.1:c.1621T= (POMGNT1)	NP_001230695.1:p.Tyr541=
NM_001290129.1:c.1555T= (POMGNT1)	NP_001277058.1:p.Tyr519=
NM_001290130.1:c.1192T= (POMGNT1)	NP_001277059.1:p.Tyr398=
NM_017739.3:c.1621T= (POMGNT1)	NP_060209.3:p.Tyr541=
XM_005271010.1:c.1621T= (POMGNT1)	XP_005271067.1:p.Tyr541=
XM_006710755.1:c.1621T= (POMGNT1)	XP_006710818.1:p.Tyr541=
XM_006710756.1:c.1621T= (POMGNT1)	XP_006710819.1:p.Tyr541=
XM_011540460.1:c.678+5193A= (TSPAN1)	XP_011538762.1:n.678+5193A=
XM_011540461.1:c.633+5193A= (TSPAN1)	XP_011538763.1:n.633+5193A=
XM_011541759.1:c.1555T= (POMGNT1)	XP_011540061.1:p.Tyr519=
XM_011541760.1:c.1555T= (POMGNT1)	XP_011540062.1:p.Tyr519=
XM_011541761.1:c.529T= (POMGNT1)	XP_011540063.1:p.Tyr177=
XM_011540460.3:c.678+5193A= (TSPAN1)	XP_011538762.1:n.678+5193A=
XM_011541760.3:c.1555T= (POMGNT1)	XP_011540062.1:p.Tyr519=
XM_017001690.1:c.1621T= (POMGNT1)	XP_016857179.1:p.Tyr541=
NM_001243766.2:c.1621T= (POMGNT1)	NP_001230695.2:p.Tyr541=
NM_001290129.2:c.1555T= (POMGNT1)	NP_001277058.2:p.Tyr519=
NM_001290130.2:c.1192T= (POMGNT1)	NP_001277059.2:p.Tyr398=
NM_017739.4:c.1621T= (POMGNT1) MANE Select	NP_060209.4:p.Tyr541=