Canonical Allele Identifier: CA340171345

Gene: POMGNT1 TSPAN1

Linked Data

• ClinVar Variation Id: 2585045
• ClinVar RCV Id: RCV003340945
• dbSNP Id: rs1657616377
• MyVariant Identifiers: chr1:g.46655569A>G (hg19) ; chr1:g.46189897A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46189897A>G , CM000663.2:g.46189897A>G	GRCh38
NC_000001.10:g.46655569A>G , CM000663.1:g.46655569A>G	GRCh37
NC_000001.9:g.46428156A>G	NCBI36
NG_009205.2:g.35409T>C
NG_009205.3:g.35409T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1742T>C (POMGNT1)	ENSP00000379698.4:p.Met581Thr
ENST00000497439.6:n.1914T>C (POMGNT1)
ENST00000684817.1:n.2102T>C (POMGNT1)
ENST00000684898.1:n.2304T>C (POMGNT1)
ENST00000685230.1:c.*1052T>C (POMGNT1)	ENSP00000510305.1:n.*1052T>C
ENST00000685275.1:n.2289T>C (POMGNT1)
ENST00000685444.1:c.1643T>C (POMGNT1)	ENSP00000510762.1:p.Met548Thr
ENST00000685704.1:n.2408T>C (POMGNT1)
ENST00000685833.1:n.4135T>C (POMGNT1)
ENST00000686252.1:n.2816T>C (POMGNT1)
ENST00000686379.1:c.*866T>C (POMGNT1)	ENSP00000508913.1:n.*866T>C
ENST00000686724.1:n.3429T>C (POMGNT1)
ENST00000686737.1:c.1742T>C (POMGNT1)	ENSP00000508736.1:p.Met581Thr
ENST00000687112.1:n.2608T>C (POMGNT1)
ENST00000687149.1:c.1781T>C (POMGNT1)	ENSP00000509745.1:p.Met594Thr
ENST00000687197.1:c.*682T>C (POMGNT1)	ENSP00000510749.1:n.*682T>C
ENST00000687235.1:n.3819T>C (POMGNT1)
ENST00000687613.1:n.2382T>C (POMGNT1)
ENST00000687683.1:c.1742T>C (POMGNT1)	ENSP00000508522.1:p.Met581Thr
ENST00000688032.1:n.2279T>C (POMGNT1)
ENST00000688596.1:n.2393T>C (POMGNT1)
ENST00000688608.1:c.1643T>C (POMGNT1)	ENSP00000508890.1:p.Met548Thr
ENST00000689031.1:n.2194T>C (POMGNT1)
ENST00000689756.1:c.*1374T>C (POMGNT1)	ENSP00000509023.1:n.*1374T>C
ENST00000690377.1:n.2089T>C (POMGNT1)
ENST00000690678.1:c.1742T>C (POMGNT1)	ENSP00000508703.1:p.Met581Thr
ENST00000691209.1:c.*682T>C (POMGNT1)	ENSP00000510112.1:n.*682T>C
ENST00000691243.1:c.*133T>C (POMGNT1)	ENSP00000510654.1:n.*133T>C
ENST00000692202.1:n.2317T>C (POMGNT1)
ENST00000692322.1:c.*1529T>C (POMGNT1)	ENSP00000509017.1:n.*1529T>C
ENST00000692369.1:c.1742T>C (POMGNT1)	ENSP00000508453.1:p.Met581Thr
ENST00000692599.1:n.3617T>C (POMGNT1)
ENST00000692635.1:c.*617T>C (POMGNT1)	ENSP00000508425.1:n.*617T>C
ENST00000693168.1:n.3518T>C (POMGNT1)
ENST00000693218.1:c.*303T>C (POMGNT1)	ENSP00000510577.1:n.*303T>C
ENST00000693223.1:n.2690T>C (POMGNT1)
ENST00000371984.8:c.1742T>C (POMGNT1) MANE Select	ENSP00000361052.3:p.Met581Thr
ENST00000371984.7:c.1742T>C (POMGNT1)	ENSP00000361052.3:p.Met581Thr
ENST00000371992.1:c.1742T>C (POMGNT1)	ENSP00000361060.1:p.Met581Thr
ENST00000396420.7:c.*1411T>C (POMGNT1)	ENSP00000379698.3:n.*1411T>C
ENST00000480972.1:n.391T>C (POMGNT1)
NM_001243766.1:c.1742T>C (POMGNT1)	NP_001230695.1:p.Met581Thr
NM_001290129.1:c.1676T>C (POMGNT1)	NP_001277058.1:p.Met559Thr
NM_001290130.1:c.1313T>C (POMGNT1)	NP_001277059.1:p.Met438Thr
NM_017739.3:c.1742T>C (POMGNT1)	NP_060209.3:p.Met581Thr
XM_005271010.1:c.1742T>C (POMGNT1)	XP_005271067.1:p.Met581Thr
XM_006710755.1:c.1742T>C (POMGNT1)	XP_006710818.1:p.Met581Thr
XM_006710756.1:c.1742T>C (POMGNT1)	XP_006710819.1:p.Met581Thr
XM_011540460.1:c.678+4589A>G (TSPAN1)	XP_011538762.1:n.678+4589A>G
XM_011540461.1:c.633+4589A>G (TSPAN1)	XP_011538763.1:n.633+4589A>G
XM_011541759.1:c.1676T>C (POMGNT1)	XP_011540061.1:p.Met559Thr
XM_011541760.1:c.1676T>C (POMGNT1)	XP_011540062.1:p.Met559Thr
XM_011541761.1:c.650T>C (POMGNT1)	XP_011540063.1:p.Met217Thr
XM_011540460.3:c.678+4589A>G (TSPAN1)	XP_011538762.1:n.678+4589A>G
XM_011541760.3:c.1676T>C (POMGNT1)	XP_011540062.1:p.Met559Thr
XM_017001690.1:c.1742T>C (POMGNT1)	XP_016857179.1:p.Met581Thr
NM_001243766.2:c.1742T>C (POMGNT1)	NP_001230695.2:p.Met581Thr
NM_001290129.2:c.1676T>C (POMGNT1)	NP_001277058.2:p.Met559Thr
NM_001290130.2:c.1313T>C (POMGNT1)	NP_001277059.2:p.Met438Thr
NM_017739.4:c.1742T>C (POMGNT1) MANE Select	NP_060209.4:p.Met581Thr