Canonical Allele Identifier: CA833208

Gene: POMGNT1 TSPAN1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46189464G>C , CM000663.2:g.46189464G>C	GRCh38
NC_000001.10:g.46655136G>C , CM000663.1:g.46655136G>C	GRCh37
NC_000001.9:g.46427723G>C	NCBI36
NG_009205.2:g.35842C>G
NG_009205.3:g.35842C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_017739.4:c.1889C>G (POMGNT1) MANE Select	NP_060209.4:p.Pro630Arg
ENST00000371984.8:c.1889C>G (POMGNT1) MANE Select	ENSP00000361052.3:p.Pro630Arg
NM_001243766.1:c.1869+20C>G (POMGNT1)	NP_001230695.1:n.1869+20C>G
NM_001243766.2:c.1869+20C>G (POMGNT1)	NP_001230695.2:n.1869+20C>G
NM_001290129.1:c.1823C>G (POMGNT1)	NP_001277058.1:p.Pro608Arg
NM_001290129.2:c.1823C>G (POMGNT1)	NP_001277058.2:p.Pro608Arg
NM_001290130.1:c.1460C>G (POMGNT1)	NP_001277059.1:p.Pro487Arg
NM_001290130.2:c.1460C>G (POMGNT1)	NP_001277059.2:p.Pro487Arg
NM_017739.3:c.1889C>G (POMGNT1)	NP_060209.3:p.Pro630Arg
ENST00000371984.7:c.1889C>G (POMGNT1)	ENSP00000361052.3:p.Pro630Arg
ENST00000371992.1:c.1869+20C>G (POMGNT1)	ENSP00000361060.1:n.1869+20C>G
ENST00000396420.7:c.*1558C>G (POMGNT1)	ENSP00000379698.3:n.*1558C>G
ENST00000396420.8:c.1889C>G (POMGNT1)	ENSP00000379698.4:p.Pro630Arg
ENST00000475642.1:n.104C>G (POMGNT1)
ENST00000497439.6:n.2061C>G (POMGNT1)
ENST00000684817.1:n.2249C>G (POMGNT1)
ENST00000684898.1:n.2451C>G (POMGNT1)
ENST00000685230.1:c.*1199C>G (POMGNT1)	ENSP00000510305.1:n.*1199C>G
ENST00000685275.1:n.2436C>G (POMGNT1)
ENST00000685444.1:c.1790C>G (POMGNT1)	ENSP00000510762.1:p.Pro597Arg
ENST00000685704.1:n.2555C>G (POMGNT1)
ENST00000685833.1:n.4282C>G (POMGNT1)
ENST00000686252.1:n.2963C>G (POMGNT1)
ENST00000686379.1:c.*1013C>G (POMGNT1)	ENSP00000508913.1:n.*1013C>G
ENST00000686724.1:n.3576C>G (POMGNT1)
ENST00000686737.1:c.1889C>G (POMGNT1)	ENSP00000508736.1:p.Pro630Arg
ENST00000687112.1:n.2755C>G (POMGNT1)
ENST00000687149.1:c.1928C>G (POMGNT1)	ENSP00000509745.1:p.Pro643Arg
ENST00000687197.1:c.*829C>G (POMGNT1)	ENSP00000510749.1:n.*829C>G
ENST00000687235.1:n.3966C>G (POMGNT1)
ENST00000687613.1:n.2529C>G (POMGNT1)
ENST00000687683.1:c.1889C>G (POMGNT1)	ENSP00000508522.1:p.Pro630Arg
ENST00000688032.1:n.2426C>G (POMGNT1)
ENST00000688596.1:n.2540C>G (POMGNT1)
ENST00000688608.1:c.1790C>G (POMGNT1)	ENSP00000508890.1:p.Pro597Arg
ENST00000689031.1:n.2341C>G (POMGNT1)
ENST00000689756.1:c.*1521C>G (POMGNT1)	ENSP00000509023.1:n.*1521C>G
ENST00000690377.1:n.2236C>G (POMGNT1)
ENST00000690678.1:c.1889C>G (POMGNT1)	ENSP00000508703.1:p.Pro630Arg
ENST00000691185.1:n.360C>G (POMGNT1)
ENST00000691209.1:c.*829C>G (POMGNT1)	ENSP00000510112.1:n.*829C>G
ENST00000691243.1:c.*280C>G (POMGNT1)	ENSP00000510654.1:n.*280C>G
ENST00000692202.1:n.2464C>G (POMGNT1)
ENST00000692322.1:c.*1676C>G (POMGNT1)	ENSP00000509017.1:n.*1676C>G
ENST00000692369.1:c.1889C>G (POMGNT1)	ENSP00000508453.1:p.Pro630Arg
ENST00000692599.1:n.3764C>G (POMGNT1)
ENST00000692635.1:c.*764C>G (POMGNT1)	ENSP00000508425.1:n.*764C>G
ENST00000693168.1:n.3665C>G (POMGNT1)
ENST00000693218.1:c.*450C>G (POMGNT1)	ENSP00000510577.1:n.*450C>G
ENST00000693223.1:n.2837C>G (POMGNT1)
XM_005271010.1:c.1889C>G (POMGNT1)	XP_005271067.1:p.Pro630Arg
XM_006710755.1:c.1889C>G (POMGNT1)	XP_006710818.1:p.Pro630Arg
XM_006710756.1:c.1869+20C>G (POMGNT1)	XP_006710819.1:n.1869+20C>G
XM_011540460.1:c.678+4156G>C (TSPAN1)	XP_011538762.1:n.678+4156G>C
XM_011540460.3:c.678+4156G>C (TSPAN1)	XP_011538762.1:n.678+4156G>C
XM_011540461.1:c.633+4156G>C (TSPAN1)	XP_011538763.1:n.633+4156G>C
XM_011541759.1:c.1823C>G (POMGNT1)	XP_011540061.1:p.Pro608Arg
XM_011541760.1:c.1823C>G (POMGNT1)	XP_011540062.1:p.Pro608Arg
XM_011541760.3:c.1823C>G (POMGNT1)	XP_011540062.1:p.Pro608Arg
XM_011541761.1:c.797C>G (POMGNT1)	XP_011540063.1:p.Pro266Arg
XM_017001690.1:c.1889C>G (POMGNT1)	XP_016857179.1:p.Pro630Arg