Canonical Allele Identifier: CA340171790

Gene: POMGNT1 TSPAN1

Linked Data

• MyVariant Identifiers: chr1:g.46656163T>G (hg19) ; chr1:g.46190491T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46190491T>G , CM000663.2:g.46190491T>G	GRCh38
NC_000001.10:g.46656163T>G , CM000663.1:g.46656163T>G	GRCh37
NC_000001.9:g.46428750T>G	NCBI36
NG_009205.2:g.34815A>C
NG_009205.3:g.34815A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1631A>C (POMGNT1)	ENSP00000379698.4:p.Glu544Ala
ENST00000477114.2:n.2193A>C (POMGNT1)
ENST00000497439.6:n.1803A>C (POMGNT1)
ENST00000684817.1:n.1991A>C (POMGNT1)
ENST00000684898.1:n.2193A>C (POMGNT1)
ENST00000685230.1:c.*941A>C (POMGNT1)	ENSP00000510305.1:n.*941A>C
ENST00000685275.1:n.2178A>C (POMGNT1)
ENST00000685444.1:c.1532A>C (POMGNT1)	ENSP00000510762.1:p.Glu511Ala
ENST00000685704.1:n.2297A>C (POMGNT1)
ENST00000685775.1:n.4673A>C (POMGNT1)
ENST00000685833.1:n.4024A>C (POMGNT1)
ENST00000686252.1:n.2705A>C (POMGNT1)
ENST00000686379.1:c.*755A>C (POMGNT1)	ENSP00000508913.1:n.*755A>C
ENST00000686724.1:n.3318A>C (POMGNT1)
ENST00000686737.1:c.1631A>C (POMGNT1)	ENSP00000508736.1:p.Glu544Ala
ENST00000687112.1:n.2497A>C (POMGNT1)
ENST00000687149.1:c.1670A>C (POMGNT1)	ENSP00000509745.1:p.Glu557Ala
ENST00000687197.1:c.*571A>C (POMGNT1)	ENSP00000510749.1:n.*571A>C
ENST00000687235.1:n.3708A>C (POMGNT1)
ENST00000687613.1:n.2290-502A>C (POMGNT1)
ENST00000687683.1:c.1631A>C (POMGNT1)	ENSP00000508522.1:p.Glu544Ala
ENST00000688032.1:n.2168A>C (POMGNT1)
ENST00000688596.1:n.2282A>C (POMGNT1)
ENST00000688608.1:c.1532A>C (POMGNT1)	ENSP00000508890.1:p.Glu511Ala
ENST00000688919.1:n.3029A>C (POMGNT1)
ENST00000689031.1:n.2102-502A>C (POMGNT1)
ENST00000689717.1:n.2005A>C (POMGNT1)
ENST00000689756.1:c.*1263A>C (POMGNT1)	ENSP00000509023.1:n.*1263A>C
ENST00000690377.1:n.1978A>C (POMGNT1)
ENST00000690678.1:c.1631A>C (POMGNT1)	ENSP00000508703.1:p.Glu544Ala
ENST00000691209.1:c.*571A>C (POMGNT1)	ENSP00000510112.1:n.*571A>C
ENST00000691243.1:c.*22A>C (POMGNT1)	ENSP00000510654.1:n.*22A>C
ENST00000692169.1:n.3295A>C (POMGNT1)
ENST00000692202.1:n.2206A>C (POMGNT1)
ENST00000692322.1:c.*1418A>C (POMGNT1)	ENSP00000509017.1:n.*1418A>C
ENST00000692369.1:c.1631A>C (POMGNT1)	ENSP00000508453.1:p.Glu544Ala
ENST00000692599.1:n.3506A>C (POMGNT1)
ENST00000692635.1:c.*506A>C (POMGNT1)	ENSP00000508425.1:n.*506A>C
ENST00000693168.1:n.3407A>C (POMGNT1)
ENST00000693218.1:c.*192A>C (POMGNT1)	ENSP00000510577.1:n.*192A>C
ENST00000693223.1:n.2579A>C (POMGNT1)
ENST00000693365.1:n.5780A>C (POMGNT1)
ENST00000371984.8:c.1631A>C (POMGNT1) MANE Select	ENSP00000361052.3:p.Glu544Ala
ENST00000371984.7:c.1631A>C (POMGNT1)	ENSP00000361052.3:p.Glu544Ala
ENST00000371992.1:c.1631A>C (POMGNT1)	ENSP00000361060.1:p.Glu544Ala
ENST00000396420.7:c.*1300A>C (POMGNT1)	ENSP00000379698.3:n.*1300A>C
ENST00000480972.1:n.280A>C (POMGNT1)
ENST00000485714.1:n.2532A>C (POMGNT1)
NM_001243766.1:c.1631A>C (POMGNT1)	NP_001230695.1:p.Glu544Ala
NM_001290129.1:c.1565A>C (POMGNT1)	NP_001277058.1:p.Glu522Ala
NM_001290130.1:c.1202A>C (POMGNT1)	NP_001277059.1:p.Glu401Ala
NM_017739.3:c.1631A>C (POMGNT1)	NP_060209.3:p.Glu544Ala
XM_005271010.1:c.1631A>C (POMGNT1)	XP_005271067.1:p.Glu544Ala
XM_006710755.1:c.1631A>C (POMGNT1)	XP_006710818.1:p.Glu544Ala
XM_006710756.1:c.1631A>C (POMGNT1)	XP_006710819.1:p.Glu544Ala
XM_011540460.1:c.678+5183T>G (TSPAN1)	XP_011538762.1:n.678+5183T>G
XM_011540461.1:c.633+5183T>G (TSPAN1)	XP_011538763.1:n.633+5183T>G
XM_011541759.1:c.1565A>C (POMGNT1)	XP_011540061.1:p.Glu522Ala
XM_011541760.1:c.1565A>C (POMGNT1)	XP_011540062.1:p.Glu522Ala
XM_011541761.1:c.539A>C (POMGNT1)	XP_011540063.1:p.Glu180Ala
XM_011540460.3:c.678+5183T>G (TSPAN1)	XP_011538762.1:n.678+5183T>G
XM_011541760.3:c.1565A>C (POMGNT1)	XP_011540062.1:p.Glu522Ala
XM_017001690.1:c.1631A>C (POMGNT1)	XP_016857179.1:p.Glu544Ala
NM_001243766.2:c.1631A>C (POMGNT1)	NP_001230695.2:p.Glu544Ala
NM_001290129.2:c.1565A>C (POMGNT1)	NP_001277058.2:p.Glu522Ala
NM_001290130.2:c.1202A>C (POMGNT1)	NP_001277059.2:p.Glu401Ala
NM_017739.4:c.1631A>C (POMGNT1) MANE Select	NP_060209.4:p.Glu544Ala