Canonical Allele Identifier: CA116564
Gene: POMGNT1 HGNC NCBI
TSPAN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4000
dbSNP Id: rs267606960
gnomAD v2: 1-46657840-C-T
gnomAD v3: 1-46192168-C-T
gnomAD v4: 1-46192168-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.46192168C>T , CM000663.2:g.46192168C>T GRCh38
NC_000001.10:g.46657840C>T , CM000663.1:g.46657840C>T GRCh37
NC_000001.9:g.46430427C>T NCBI36
NG_009205.2:g.33138G>A
NG_009205.3:g.33138G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000396420.8:c.1469G>A (POMGNT1) ENSP00000379698.4:p.Cys490Tyr
ENST00000477114.2:n.2031G>A (POMGNT1)
ENST00000497439.6:n.1641G>A (POMGNT1)
ENST00000684817.1:n.1829G>A (POMGNT1)
ENST00000684898.1:n.2031G>A (POMGNT1)
ENST00000685230.1:c.*779G>A (POMGNT1) ENSP00000510305.1:n.*779G>A
ENST00000685275.1:n.2016G>A (POMGNT1)
ENST00000685444.1:c.1370G>A (POMGNT1) ENSP00000510762.1:p.Cys457Tyr
ENST00000685704.1:n.2031G>A (POMGNT1)
ENST00000685775.1:n.2996G>A (POMGNT1)
ENST00000685833.1:n.2347G>A (POMGNT1)
ENST00000686252.1:n.2543G>A (POMGNT1)
ENST00000686379.1:c.*593G>A (POMGNT1) ENSP00000508913.1:n.*593G>A
ENST00000686724.1:n.1641G>A (POMGNT1)
ENST00000686737.1:c.1469G>A (POMGNT1) ENSP00000508736.1:p.Cys490Tyr
ENST00000687112.1:n.2335G>A (POMGNT1)
ENST00000687149.1:c.1469G>A (POMGNT1) ENSP00000509745.1:p.Cys490Tyr
ENST00000687197.1:c.*409G>A (POMGNT1) ENSP00000510749.1:n.*409G>A
ENST00000687235.1:n.2031G>A (POMGNT1)
ENST00000687613.1:n.2219G>A (POMGNT1)
ENST00000687683.1:c.1469G>A (POMGNT1) ENSP00000508522.1:p.Cys490Tyr
ENST00000688032.1:n.2031G>A (POMGNT1)
ENST00000688596.1:n.2120G>A (POMGNT1)
ENST00000688608.1:c.1370G>A (POMGNT1) ENSP00000508890.1:p.Cys457Tyr
ENST00000688919.1:n.2665G>A (POMGNT1)
ENST00000689031.1:n.2031G>A (POMGNT1)
ENST00000689717.1:n.1641G>A (POMGNT1)
ENST00000689756.1:c.*1101G>A (POMGNT1) ENSP00000509023.1:n.*1101G>A
ENST00000690377.1:n.1816G>A (POMGNT1)
ENST00000690678.1:c.1469G>A (POMGNT1) ENSP00000508703.1:p.Cys490Tyr
ENST00000691209.1:c.*409G>A (POMGNT1) ENSP00000510112.1:n.*409G>A
ENST00000691243.1:c.1469G>A (POMGNT1) ENSP00000510654.1:p.Cys490Tyr
ENST00000692169.1:n.1618G>A (POMGNT1)
ENST00000692202.1:n.2044G>A (POMGNT1)
ENST00000692322.1:c.*1321G>A (POMGNT1) ENSP00000509017.1:n.*1321G>A
ENST00000692369.1:c.1469G>A (POMGNT1) ENSP00000508453.1:p.Cys490Tyr
ENST00000692599.1:n.2031G>A (POMGNT1)
ENST00000692635.1:c.*409G>A (POMGNT1) ENSP00000508425.1:n.*409G>A
ENST00000693168.1:n.1730G>A (POMGNT1)
ENST00000693218.1:c.1469G>A (POMGNT1) ENSP00000510577.1:p.Cys490Tyr
ENST00000693223.1:n.2417G>A (POMGNT1)
ENST00000693365.1:n.4103G>A (POMGNT1)
ENST00000371984.8:c.1469G>A (POMGNT1) MANE Select ENSP00000361052.3:p.Cys490Tyr
ENST00000371984.7:c.1469G>A (POMGNT1) ENSP00000361052.3:p.Cys490Tyr
ENST00000371992.1:c.1469G>A (POMGNT1) ENSP00000361060.1:p.Cys490Tyr
ENST00000396420.7:c.*1138G>A (POMGNT1) ENSP00000379698.3:n.*1138G>A
ENST00000463030.1:n.90G>A (POMGNT1)
ENST00000485714.1:n.855G>A (POMGNT1)
NM_001243766.1:c.1469G>A (POMGNT1) NP_001230695.1:p.Cys490Tyr
NM_001290129.1:c.1403G>A (POMGNT1) NP_001277058.1:p.Cys468Tyr
NM_001290130.1:c.1040G>A (POMGNT1) NP_001277059.1:p.Cys347Tyr
NM_017739.3:c.1469G>A (POMGNT1) NP_060209.3:p.Cys490Tyr
XM_005271010.1:c.1469G>A (POMGNT1) XP_005271067.1:p.Cys490Tyr
XM_006710755.1:c.1469G>A (POMGNT1) XP_006710818.1:p.Cys490Tyr
XM_006710756.1:c.1469G>A (POMGNT1) XP_006710819.1:p.Cys490Tyr
XM_011540460.1:c.679-4034C>T (TSPAN1) XP_011538762.1:n.679-4034C>T
XM_011540461.1:c.634-4034C>T (TSPAN1) XP_011538763.1:n.634-4034C>T
XM_011541759.1:c.1403G>A (POMGNT1) XP_011540061.1:p.Cys468Tyr
XM_011541760.1:c.1403G>A (POMGNT1) XP_011540062.1:p.Cys468Tyr
XM_011541761.1:c.377G>A (POMGNT1) XP_011540063.1:p.Cys126Tyr
XR_946706.1:n.1629G>A (POMGNT1)
XM_011540460.3:c.679-4034C>T (TSPAN1) XP_011538762.1:n.679-4034C>T
XM_011541760.3:c.1403G>A (POMGNT1) XP_011540062.1:p.Cys468Tyr
XM_017001690.1:c.1469G>A (POMGNT1) XP_016857179.1:p.Cys490Tyr
NM_001243766.2:c.1469G>A (POMGNT1) NP_001230695.2:p.Cys490Tyr
NM_001290129.2:c.1403G>A (POMGNT1) NP_001277058.2:p.Cys468Tyr
NM_001290130.2:c.1040G>A (POMGNT1) NP_001277059.2:p.Cys347Tyr
NM_017739.4:c.1469G>A (POMGNT1) MANE Select NP_060209.4:p.Cys490Tyr