Canonical Allele Identifier: CA340171786

Gene: POMGNT1 TSPAN1

Linked Data

• gnomAD v4: 1-46190489-C-G
• MyVariant Identifiers: chr1:g.46656161C>G (hg19) ; chr1:g.46190489C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46190489C>G , CM000663.2:g.46190489C>G	GRCh38
NC_000001.10:g.46656161C>G , CM000663.1:g.46656161C>G	GRCh37
NC_000001.9:g.46428748C>G	NCBI36
NG_009205.2:g.34817G>C
NG_009205.3:g.34817G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1633G>C (POMGNT1)	ENSP00000379698.4:p.Val545Leu
ENST00000477114.2:n.2195G>C (POMGNT1)
ENST00000497439.6:n.1805G>C (POMGNT1)
ENST00000684817.1:n.1993G>C (POMGNT1)
ENST00000684898.1:n.2195G>C (POMGNT1)
ENST00000685230.1:c.*943G>C (POMGNT1)	ENSP00000510305.1:n.*943G>C
ENST00000685275.1:n.2180G>C (POMGNT1)
ENST00000685444.1:c.1534G>C (POMGNT1)	ENSP00000510762.1:p.Val512Leu
ENST00000685704.1:n.2299G>C (POMGNT1)
ENST00000685775.1:n.4675G>C (POMGNT1)
ENST00000685833.1:n.4026G>C (POMGNT1)
ENST00000686252.1:n.2707G>C (POMGNT1)
ENST00000686379.1:c.*757G>C (POMGNT1)	ENSP00000508913.1:n.*757G>C
ENST00000686724.1:n.3320G>C (POMGNT1)
ENST00000686737.1:c.1633G>C (POMGNT1)	ENSP00000508736.1:p.Val545Leu
ENST00000687112.1:n.2499G>C (POMGNT1)
ENST00000687149.1:c.1672G>C (POMGNT1)	ENSP00000509745.1:p.Val558Leu
ENST00000687197.1:c.*573G>C (POMGNT1)	ENSP00000510749.1:n.*573G>C
ENST00000687235.1:n.3710G>C (POMGNT1)
ENST00000687613.1:n.2290-500G>C (POMGNT1)
ENST00000687683.1:c.1633G>C (POMGNT1)	ENSP00000508522.1:p.Val545Leu
ENST00000688032.1:n.2170G>C (POMGNT1)
ENST00000688596.1:n.2284G>C (POMGNT1)
ENST00000688608.1:c.1534G>C (POMGNT1)	ENSP00000508890.1:p.Val512Leu
ENST00000688919.1:n.3031G>C (POMGNT1)
ENST00000689031.1:n.2102-500G>C (POMGNT1)
ENST00000689717.1:n.2007G>C (POMGNT1)
ENST00000689756.1:c.*1265G>C (POMGNT1)	ENSP00000509023.1:n.*1265G>C
ENST00000690377.1:n.1980G>C (POMGNT1)
ENST00000690678.1:c.1633G>C (POMGNT1)	ENSP00000508703.1:p.Val545Leu
ENST00000691209.1:c.*573G>C (POMGNT1)	ENSP00000510112.1:n.*573G>C
ENST00000691243.1:c.*24G>C (POMGNT1)	ENSP00000510654.1:n.*24G>C
ENST00000692169.1:n.3297G>C (POMGNT1)
ENST00000692202.1:n.2208G>C (POMGNT1)
ENST00000692322.1:c.*1420G>C (POMGNT1)	ENSP00000509017.1:n.*1420G>C
ENST00000692369.1:c.1633G>C (POMGNT1)	ENSP00000508453.1:p.Val545Leu
ENST00000692599.1:n.3508G>C (POMGNT1)
ENST00000692635.1:c.*508G>C (POMGNT1)	ENSP00000508425.1:n.*508G>C
ENST00000693168.1:n.3409G>C (POMGNT1)
ENST00000693218.1:c.*194G>C (POMGNT1)	ENSP00000510577.1:n.*194G>C
ENST00000693223.1:n.2581G>C (POMGNT1)
ENST00000693365.1:n.5782G>C (POMGNT1)
ENST00000371984.8:c.1633G>C (POMGNT1) MANE Select	ENSP00000361052.3:p.Val545Leu
ENST00000371984.7:c.1633G>C (POMGNT1)	ENSP00000361052.3:p.Val545Leu
ENST00000371992.1:c.1633G>C (POMGNT1)	ENSP00000361060.1:p.Val545Leu
ENST00000396420.7:c.*1302G>C (POMGNT1)	ENSP00000379698.3:n.*1302G>C
ENST00000480972.1:n.282G>C (POMGNT1)
ENST00000485714.1:n.2534G>C (POMGNT1)
NM_001243766.1:c.1633G>C (POMGNT1)	NP_001230695.1:p.Val545Leu
NM_001290129.1:c.1567G>C (POMGNT1)	NP_001277058.1:p.Val523Leu
NM_001290130.1:c.1204G>C (POMGNT1)	NP_001277059.1:p.Val402Leu
NM_017739.3:c.1633G>C (POMGNT1)	NP_060209.3:p.Val545Leu
XM_005271010.1:c.1633G>C (POMGNT1)	XP_005271067.1:p.Val545Leu
XM_006710755.1:c.1633G>C (POMGNT1)	XP_006710818.1:p.Val545Leu
XM_006710756.1:c.1633G>C (POMGNT1)	XP_006710819.1:p.Val545Leu
XM_011540460.1:c.678+5181C>G (TSPAN1)	XP_011538762.1:n.678+5181C>G
XM_011540461.1:c.633+5181C>G (TSPAN1)	XP_011538763.1:n.633+5181C>G
XM_011541759.1:c.1567G>C (POMGNT1)	XP_011540061.1:p.Val523Leu
XM_011541760.1:c.1567G>C (POMGNT1)	XP_011540062.1:p.Val523Leu
XM_011541761.1:c.541G>C (POMGNT1)	XP_011540063.1:p.Val181Leu
XM_011540460.3:c.678+5181C>G (TSPAN1)	XP_011538762.1:n.678+5181C>G
XM_011541760.3:c.1567G>C (POMGNT1)	XP_011540062.1:p.Val523Leu
XM_017001690.1:c.1633G>C (POMGNT1)	XP_016857179.1:p.Val545Leu
NM_001243766.2:c.1633G>C (POMGNT1)	NP_001230695.2:p.Val545Leu
NM_001290129.2:c.1567G>C (POMGNT1)	NP_001277058.2:p.Val523Leu
NM_001290130.2:c.1204G>C (POMGNT1)	NP_001277059.2:p.Val402Leu
NM_017739.4:c.1633G>C (POMGNT1) MANE Select	NP_060209.4:p.Val545Leu