Canonical Allele Identifier: CA340171761

Gene: POMGNT1 TSPAN1

Linked Data

• dbSNP Id: rs1188550112
• gnomAD v2: 1-46656151-A-C
• gnomAD v4: 1-46190479-A-C
• MyVariant Identifiers: chr1:g.46656151A>C (hg19) ; chr1:g.46190479A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46190479A>C , CM000663.2:g.46190479A>C	GRCh38
NC_000001.10:g.46656151A>C , CM000663.1:g.46656151A>C	GRCh37
NC_000001.9:g.46428738A>C	NCBI36
NG_009205.2:g.34827T>G
NG_009205.3:g.34827T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1643T>G (POMGNT1)	ENSP00000379698.4:p.Leu548Arg
ENST00000477114.2:n.2205T>G (POMGNT1)
ENST00000497439.6:n.1815T>G (POMGNT1)
ENST00000684817.1:n.2003T>G (POMGNT1)
ENST00000684898.1:n.2205T>G (POMGNT1)
ENST00000685230.1:c.*953T>G (POMGNT1)	ENSP00000510305.1:n.*953T>G
ENST00000685275.1:n.2190T>G (POMGNT1)
ENST00000685444.1:c.1544T>G (POMGNT1)	ENSP00000510762.1:p.Leu515Arg
ENST00000685704.1:n.2309T>G (POMGNT1)
ENST00000685775.1:n.4685T>G (POMGNT1)
ENST00000685833.1:n.4036T>G (POMGNT1)
ENST00000686252.1:n.2717T>G (POMGNT1)
ENST00000686379.1:c.*767T>G (POMGNT1)	ENSP00000508913.1:n.*767T>G
ENST00000686724.1:n.3330T>G (POMGNT1)
ENST00000686737.1:c.1643T>G (POMGNT1)	ENSP00000508736.1:p.Leu548Arg
ENST00000687112.1:n.2509T>G (POMGNT1)
ENST00000687149.1:c.1682T>G (POMGNT1)	ENSP00000509745.1:p.Leu561Arg
ENST00000687197.1:c.*583T>G (POMGNT1)	ENSP00000510749.1:n.*583T>G
ENST00000687235.1:n.3720T>G (POMGNT1)
ENST00000687613.1:n.2290-490T>G (POMGNT1)
ENST00000687683.1:c.1643T>G (POMGNT1)	ENSP00000508522.1:p.Leu548Arg
ENST00000688032.1:n.2180T>G (POMGNT1)
ENST00000688596.1:n.2294T>G (POMGNT1)
ENST00000688608.1:c.1544T>G (POMGNT1)	ENSP00000508890.1:p.Leu515Arg
ENST00000688919.1:n.3041T>G (POMGNT1)
ENST00000689031.1:n.2102-490T>G (POMGNT1)
ENST00000689717.1:n.2017T>G (POMGNT1)
ENST00000689756.1:c.*1275T>G (POMGNT1)	ENSP00000509023.1:n.*1275T>G
ENST00000690377.1:n.1990T>G (POMGNT1)
ENST00000690678.1:c.1643T>G (POMGNT1)	ENSP00000508703.1:p.Leu548Arg
ENST00000691209.1:c.*583T>G (POMGNT1)	ENSP00000510112.1:n.*583T>G
ENST00000691243.1:c.*34T>G (POMGNT1)	ENSP00000510654.1:n.*34T>G
ENST00000692169.1:n.3307T>G (POMGNT1)
ENST00000692202.1:n.2218T>G (POMGNT1)
ENST00000692322.1:c.*1430T>G (POMGNT1)	ENSP00000509017.1:n.*1430T>G
ENST00000692369.1:c.1643T>G (POMGNT1)	ENSP00000508453.1:p.Leu548Arg
ENST00000692599.1:n.3518T>G (POMGNT1)
ENST00000692635.1:c.*518T>G (POMGNT1)	ENSP00000508425.1:n.*518T>G
ENST00000693168.1:n.3419T>G (POMGNT1)
ENST00000693218.1:c.*204T>G (POMGNT1)	ENSP00000510577.1:n.*204T>G
ENST00000693223.1:n.2591T>G (POMGNT1)
ENST00000693365.1:n.5792T>G (POMGNT1)
ENST00000371984.8:c.1643T>G (POMGNT1) MANE Select	ENSP00000361052.3:p.Leu548Arg
ENST00000371984.7:c.1643T>G (POMGNT1)	ENSP00000361052.3:p.Leu548Arg
ENST00000371992.1:c.1643T>G (POMGNT1)	ENSP00000361060.1:p.Leu548Arg
ENST00000396420.7:c.*1312T>G (POMGNT1)	ENSP00000379698.3:n.*1312T>G
ENST00000480972.1:n.292T>G (POMGNT1)
ENST00000485714.1:n.2544T>G (POMGNT1)
NM_001243766.1:c.1643T>G (POMGNT1)	NP_001230695.1:p.Leu548Arg
NM_001290129.1:c.1577T>G (POMGNT1)	NP_001277058.1:p.Leu526Arg
NM_001290130.1:c.1214T>G (POMGNT1)	NP_001277059.1:p.Leu405Arg
NM_017739.3:c.1643T>G (POMGNT1)	NP_060209.3:p.Leu548Arg
XM_005271010.1:c.1643T>G (POMGNT1)	XP_005271067.1:p.Leu548Arg
XM_006710755.1:c.1643T>G (POMGNT1)	XP_006710818.1:p.Leu548Arg
XM_006710756.1:c.1643T>G (POMGNT1)	XP_006710819.1:p.Leu548Arg
XM_011540460.1:c.678+5171A>C (TSPAN1)	XP_011538762.1:n.678+5171A>C
XM_011540461.1:c.633+5171A>C (TSPAN1)	XP_011538763.1:n.633+5171A>C
XM_011541759.1:c.1577T>G (POMGNT1)	XP_011540061.1:p.Leu526Arg
XM_011541760.1:c.1577T>G (POMGNT1)	XP_011540062.1:p.Leu526Arg
XM_011541761.1:c.551T>G (POMGNT1)	XP_011540063.1:p.Leu184Arg
XM_011540460.3:c.678+5171A>C (TSPAN1)	XP_011538762.1:n.678+5171A>C
XM_011541760.3:c.1577T>G (POMGNT1)	XP_011540062.1:p.Leu526Arg
XM_017001690.1:c.1643T>G (POMGNT1)	XP_016857179.1:p.Leu548Arg
NM_001243766.2:c.1643T>G (POMGNT1)	NP_001230695.2:p.Leu548Arg
NM_001290129.2:c.1577T>G (POMGNT1)	NP_001277058.2:p.Leu526Arg
NM_001290130.2:c.1214T>G (POMGNT1)	NP_001277059.2:p.Leu405Arg
NM_017739.4:c.1643T>G (POMGNT1) MANE Select	NP_060209.4:p.Leu548Arg