Canonical Allele Identifier: CA340171850

Gene: POMGNT1 TSPAN1

Linked Data

• dbSNP Id: rs2148172473
• gnomAD v4: 1-46190517-A-T
• MyVariant Identifiers: chr1:g.46656189A>T (hg19) ; chr1:g.46190517A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46190517A>T , CM000663.2:g.46190517A>T	GRCh38
NC_000001.10:g.46656189A>T , CM000663.1:g.46656189A>T	GRCh37
NC_000001.9:g.46428776A>T	NCBI36
NG_009205.2:g.34789T>A
NG_009205.3:g.34789T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1605T>A (POMGNT1)	ENSP00000379698.4:p.Ser535Arg
ENST00000477114.2:n.2167T>A (POMGNT1)
ENST00000497439.6:n.1777T>A (POMGNT1)
ENST00000684817.1:n.1965T>A (POMGNT1)
ENST00000684898.1:n.2167T>A (POMGNT1)
ENST00000685230.1:c.*915T>A (POMGNT1)	ENSP00000510305.1:n.*915T>A
ENST00000685275.1:n.2152T>A (POMGNT1)
ENST00000685444.1:c.1506T>A (POMGNT1)	ENSP00000510762.1:p.Ser502Arg
ENST00000685704.1:n.2271T>A (POMGNT1)
ENST00000685775.1:n.4647T>A (POMGNT1)
ENST00000685833.1:n.3998T>A (POMGNT1)
ENST00000686252.1:n.2679T>A (POMGNT1)
ENST00000686379.1:c.*729T>A (POMGNT1)	ENSP00000508913.1:n.*729T>A
ENST00000686724.1:n.3292T>A (POMGNT1)
ENST00000686737.1:c.1605T>A (POMGNT1)	ENSP00000508736.1:p.Ser535Arg
ENST00000687112.1:n.2471T>A (POMGNT1)
ENST00000687149.1:c.1644T>A (POMGNT1)	ENSP00000509745.1:p.Ser548Arg
ENST00000687197.1:c.*545T>A (POMGNT1)	ENSP00000510749.1:n.*545T>A
ENST00000687235.1:n.3682T>A (POMGNT1)
ENST00000687613.1:n.2290-528T>A (POMGNT1)
ENST00000687683.1:c.1605T>A (POMGNT1)	ENSP00000508522.1:p.Ser535Arg
ENST00000688032.1:n.2142T>A (POMGNT1)
ENST00000688596.1:n.2256T>A (POMGNT1)
ENST00000688608.1:c.1506T>A (POMGNT1)	ENSP00000508890.1:p.Ser502Arg
ENST00000688919.1:n.3003T>A (POMGNT1)
ENST00000689031.1:n.2102-528T>A (POMGNT1)
ENST00000689717.1:n.1979T>A (POMGNT1)
ENST00000689756.1:c.*1237T>A (POMGNT1)	ENSP00000509023.1:n.*1237T>A
ENST00000690377.1:n.1952T>A (POMGNT1)
ENST00000690678.1:c.1605T>A (POMGNT1)	ENSP00000508703.1:p.Ser535Arg
ENST00000691209.1:c.*545T>A (POMGNT1)	ENSP00000510112.1:n.*545T>A
ENST00000691243.1:c.1580T>A (POMGNT1)	ENSP00000510654.1:p.Val527Asp
ENST00000692169.1:n.3269T>A (POMGNT1)
ENST00000692202.1:n.2180T>A (POMGNT1)
ENST00000692322.1:c.*1392T>A (POMGNT1)	ENSP00000509017.1:n.*1392T>A
ENST00000692369.1:c.1605T>A (POMGNT1)	ENSP00000508453.1:p.Ser535Arg
ENST00000692599.1:n.3480T>A (POMGNT1)
ENST00000692635.1:c.*480T>A (POMGNT1)	ENSP00000508425.1:n.*480T>A
ENST00000693168.1:n.3381T>A (POMGNT1)
ENST00000693218.1:c.*166T>A (POMGNT1)	ENSP00000510577.1:n.*166T>A
ENST00000693223.1:n.2553T>A (POMGNT1)
ENST00000693365.1:n.5754T>A (POMGNT1)
ENST00000371984.8:c.1605T>A (POMGNT1) MANE Select	ENSP00000361052.3:p.Ser535Arg
ENST00000371984.7:c.1605T>A (POMGNT1)	ENSP00000361052.3:p.Ser535Arg
ENST00000371992.1:c.1605T>A (POMGNT1)	ENSP00000361060.1:p.Ser535Arg
ENST00000396420.7:c.*1274T>A (POMGNT1)	ENSP00000379698.3:n.*1274T>A
ENST00000480972.1:n.254T>A (POMGNT1)
ENST00000485714.1:n.2506T>A (POMGNT1)
NM_001243766.1:c.1605T>A (POMGNT1)	NP_001230695.1:p.Ser535Arg
NM_001290129.1:c.1539T>A (POMGNT1)	NP_001277058.1:p.Ser513Arg
NM_001290130.1:c.1176T>A (POMGNT1)	NP_001277059.1:p.Ser392Arg
NM_017739.3:c.1605T>A (POMGNT1)	NP_060209.3:p.Ser535Arg
XM_005271010.1:c.1605T>A (POMGNT1)	XP_005271067.1:p.Ser535Arg
XM_006710755.1:c.1605T>A (POMGNT1)	XP_006710818.1:p.Ser535Arg
XM_006710756.1:c.1605T>A (POMGNT1)	XP_006710819.1:p.Ser535Arg
XM_011540460.1:c.678+5209A>T (TSPAN1)	XP_011538762.1:n.678+5209A>T
XM_011540461.1:c.633+5209A>T (TSPAN1)	XP_011538763.1:n.633+5209A>T
XM_011541759.1:c.1539T>A (POMGNT1)	XP_011540061.1:p.Ser513Arg
XM_011541760.1:c.1539T>A (POMGNT1)	XP_011540062.1:p.Ser513Arg
XM_011541761.1:c.513T>A (POMGNT1)	XP_011540063.1:p.Ser171Arg
XM_011540460.3:c.678+5209A>T (TSPAN1)	XP_011538762.1:n.678+5209A>T
XM_011541760.3:c.1539T>A (POMGNT1)	XP_011540062.1:p.Ser513Arg
XM_017001690.1:c.1605T>A (POMGNT1)	XP_016857179.1:p.Ser535Arg
NM_001243766.2:c.1605T>A (POMGNT1)	NP_001230695.2:p.Ser535Arg
NM_001290129.2:c.1539T>A (POMGNT1)	NP_001277058.2:p.Ser513Arg
NM_001290130.2:c.1176T>A (POMGNT1)	NP_001277059.2:p.Ser392Arg
NM_017739.4:c.1605T>A (POMGNT1) MANE Select	NP_060209.4:p.Ser535Arg