Canonical Allele Identifier: CA21911035

Gene: POMGNT1 TSPAN1

Linked Data

• dbSNP Id: rs982305016
• MyVariant Identifiers: chr1:g.46656166A>G (hg19) ; chr1:g.46190494A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46190494A>G , CM000663.2:g.46190494A>G	GRCh38
NC_000001.10:g.46656166A>G , CM000663.1:g.46656166A>G	GRCh37
NC_000001.9:g.46428753A>G	NCBI36
NG_009205.2:g.34812T>C
NG_009205.3:g.34812T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1628T>C (POMGNT1)	ENSP00000379698.4:p.Val543Ala
ENST00000477114.2:n.2190T>C (POMGNT1)
ENST00000497439.6:n.1800T>C (POMGNT1)
ENST00000684817.1:n.1988T>C (POMGNT1)
ENST00000684898.1:n.2190T>C (POMGNT1)
ENST00000685230.1:c.*938T>C (POMGNT1)	ENSP00000510305.1:n.*938T>C
ENST00000685275.1:n.2175T>C (POMGNT1)
ENST00000685444.1:c.1529T>C (POMGNT1)	ENSP00000510762.1:p.Val510Ala
ENST00000685704.1:n.2294T>C (POMGNT1)
ENST00000685775.1:n.4670T>C (POMGNT1)
ENST00000685833.1:n.4021T>C (POMGNT1)
ENST00000686252.1:n.2702T>C (POMGNT1)
ENST00000686379.1:c.*752T>C (POMGNT1)	ENSP00000508913.1:n.*752T>C
ENST00000686724.1:n.3315T>C (POMGNT1)
ENST00000686737.1:c.1628T>C (POMGNT1)	ENSP00000508736.1:p.Val543Ala
ENST00000687112.1:n.2494T>C (POMGNT1)
ENST00000687149.1:c.1667T>C (POMGNT1)	ENSP00000509745.1:p.Val556Ala
ENST00000687197.1:c.*568T>C (POMGNT1)	ENSP00000510749.1:n.*568T>C
ENST00000687235.1:n.3705T>C (POMGNT1)
ENST00000687613.1:n.2290-505T>C (POMGNT1)
ENST00000687683.1:c.1628T>C (POMGNT1)	ENSP00000508522.1:p.Val543Ala
ENST00000688032.1:n.2165T>C (POMGNT1)
ENST00000688596.1:n.2279T>C (POMGNT1)
ENST00000688608.1:c.1529T>C (POMGNT1)	ENSP00000508890.1:p.Val510Ala
ENST00000688919.1:n.3026T>C (POMGNT1)
ENST00000689031.1:n.2102-505T>C (POMGNT1)
ENST00000689717.1:n.2002T>C (POMGNT1)
ENST00000689756.1:c.*1260T>C (POMGNT1)	ENSP00000509023.1:n.*1260T>C
ENST00000690377.1:n.1975T>C (POMGNT1)
ENST00000690678.1:c.1628T>C (POMGNT1)	ENSP00000508703.1:p.Val543Ala
ENST00000691209.1:c.*568T>C (POMGNT1)	ENSP00000510112.1:n.*568T>C
ENST00000691243.1:c.*19T>C (POMGNT1)	ENSP00000510654.1:n.*19T>C
ENST00000692169.1:n.3292T>C (POMGNT1)
ENST00000692202.1:n.2203T>C (POMGNT1)
ENST00000692322.1:c.*1415T>C (POMGNT1)	ENSP00000509017.1:n.*1415T>C
ENST00000692369.1:c.1628T>C (POMGNT1)	ENSP00000508453.1:p.Val543Ala
ENST00000692599.1:n.3503T>C (POMGNT1)
ENST00000692635.1:c.*503T>C (POMGNT1)	ENSP00000508425.1:n.*503T>C
ENST00000693168.1:n.3404T>C (POMGNT1)
ENST00000693218.1:c.*189T>C (POMGNT1)	ENSP00000510577.1:n.*189T>C
ENST00000693223.1:n.2576T>C (POMGNT1)
ENST00000693365.1:n.5777T>C (POMGNT1)
ENST00000371984.8:c.1628T>C (POMGNT1) MANE Select	ENSP00000361052.3:p.Val543Ala
ENST00000371984.7:c.1628T>C (POMGNT1)	ENSP00000361052.3:p.Val543Ala
ENST00000371992.1:c.1628T>C (POMGNT1)	ENSP00000361060.1:p.Val543Ala
ENST00000396420.7:c.*1297T>C (POMGNT1)	ENSP00000379698.3:n.*1297T>C
ENST00000480972.1:n.277T>C (POMGNT1)
ENST00000485714.1:n.2529T>C (POMGNT1)
NM_001243766.1:c.1628T>C (POMGNT1)	NP_001230695.1:p.Val543Ala
NM_001290129.1:c.1562T>C (POMGNT1)	NP_001277058.1:p.Val521Ala
NM_001290130.1:c.1199T>C (POMGNT1)	NP_001277059.1:p.Val400Ala
NM_017739.3:c.1628T>C (POMGNT1)	NP_060209.3:p.Val543Ala
XM_005271010.1:c.1628T>C (POMGNT1)	XP_005271067.1:p.Val543Ala
XM_006710755.1:c.1628T>C (POMGNT1)	XP_006710818.1:p.Val543Ala
XM_006710756.1:c.1628T>C (POMGNT1)	XP_006710819.1:p.Val543Ala
XM_011540460.1:c.678+5186A>G (TSPAN1)	XP_011538762.1:n.678+5186A>G
XM_011540461.1:c.633+5186A>G (TSPAN1)	XP_011538763.1:n.633+5186A>G
XM_011541759.1:c.1562T>C (POMGNT1)	XP_011540061.1:p.Val521Ala
XM_011541760.1:c.1562T>C (POMGNT1)	XP_011540062.1:p.Val521Ala
XM_011541761.1:c.536T>C (POMGNT1)	XP_011540063.1:p.Val179Ala
XM_011540460.3:c.678+5186A>G (TSPAN1)	XP_011538762.1:n.678+5186A>G
XM_011541760.3:c.1562T>C (POMGNT1)	XP_011540062.1:p.Val521Ala
XM_017001690.1:c.1628T>C (POMGNT1)	XP_016857179.1:p.Val543Ala
NM_001243766.2:c.1628T>C (POMGNT1)	NP_001230695.2:p.Val543Ala
NM_001290129.2:c.1562T>C (POMGNT1)	NP_001277058.2:p.Val521Ala
NM_001290130.2:c.1199T>C (POMGNT1)	NP_001277059.2:p.Val400Ala
NM_017739.4:c.1628T>C (POMGNT1) MANE Select	NP_060209.4:p.Val543Ala