Canonical Allele Identifier: CA340170914

Gene: POMGNT1 TSPAN1

Linked Data

• gnomAD v4: 1-46189513-A-C
• MyVariant Identifiers: chr1:g.46655185A>C (hg19) ; chr1:g.46189513A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46189513A>C , CM000663.2:g.46189513A>C	GRCh38
NC_000001.10:g.46655185A>C , CM000663.1:g.46655185A>C	GRCh37
NC_000001.9:g.46427772A>C	NCBI36
NG_009205.2:g.35793T>G
NG_009205.3:g.35793T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1840T>G (POMGNT1)	ENSP00000379698.4:p.Leu614Val
ENST00000497439.6:n.2012T>G (POMGNT1)
ENST00000684817.1:n.2200T>G (POMGNT1)
ENST00000684898.1:n.2402T>G (POMGNT1)
ENST00000685230.1:c.*1150T>G (POMGNT1)	ENSP00000510305.1:n.*1150T>G
ENST00000685275.1:n.2387T>G (POMGNT1)
ENST00000685444.1:c.1741T>G (POMGNT1)	ENSP00000510762.1:p.Leu581Val
ENST00000685704.1:n.2506T>G (POMGNT1)
ENST00000685833.1:n.4233T>G (POMGNT1)
ENST00000686252.1:n.2914T>G (POMGNT1)
ENST00000686379.1:c.*964T>G (POMGNT1)	ENSP00000508913.1:n.*964T>G
ENST00000686724.1:n.3527T>G (POMGNT1)
ENST00000686737.1:c.1840T>G (POMGNT1)	ENSP00000508736.1:p.Leu614Val
ENST00000687112.1:n.2706T>G (POMGNT1)
ENST00000687149.1:c.1879T>G (POMGNT1)	ENSP00000509745.1:p.Leu627Val
ENST00000687197.1:c.*780T>G (POMGNT1)	ENSP00000510749.1:n.*780T>G
ENST00000687235.1:n.3917T>G (POMGNT1)
ENST00000687613.1:n.2480T>G (POMGNT1)
ENST00000687683.1:c.1840T>G (POMGNT1)	ENSP00000508522.1:p.Leu614Val
ENST00000688032.1:n.2377T>G (POMGNT1)
ENST00000688596.1:n.2491T>G (POMGNT1)
ENST00000688608.1:c.1741T>G (POMGNT1)	ENSP00000508890.1:p.Leu581Val
ENST00000689031.1:n.2292T>G (POMGNT1)
ENST00000689756.1:c.*1472T>G (POMGNT1)	ENSP00000509023.1:n.*1472T>G
ENST00000690377.1:n.2187T>G (POMGNT1)
ENST00000690678.1:c.1840T>G (POMGNT1)	ENSP00000508703.1:p.Leu614Val
ENST00000691185.1:n.311T>G (POMGNT1)
ENST00000691209.1:c.*780T>G (POMGNT1)	ENSP00000510112.1:n.*780T>G
ENST00000691243.1:c.*231T>G (POMGNT1)	ENSP00000510654.1:n.*231T>G
ENST00000692202.1:n.2415T>G (POMGNT1)
ENST00000692322.1:c.*1627T>G (POMGNT1)	ENSP00000509017.1:n.*1627T>G
ENST00000692369.1:c.1840T>G (POMGNT1)	ENSP00000508453.1:p.Leu614Val
ENST00000692599.1:n.3715T>G (POMGNT1)
ENST00000692635.1:c.*715T>G (POMGNT1)	ENSP00000508425.1:n.*715T>G
ENST00000693168.1:n.3616T>G (POMGNT1)
ENST00000693218.1:c.*401T>G (POMGNT1)	ENSP00000510577.1:n.*401T>G
ENST00000693223.1:n.2788T>G (POMGNT1)
ENST00000371984.8:c.1840T>G (POMGNT1) MANE Select	ENSP00000361052.3:p.Leu614Val
ENST00000371984.7:c.1840T>G (POMGNT1)	ENSP00000361052.3:p.Leu614Val
ENST00000371992.1:c.1840T>G (POMGNT1)	ENSP00000361060.1:p.Leu614Val
ENST00000396420.7:c.*1509T>G (POMGNT1)	ENSP00000379698.3:n.*1509T>G
ENST00000475642.1:n.55T>G (POMGNT1)
NM_001243766.1:c.1840T>G (POMGNT1)	NP_001230695.1:p.Leu614Val
NM_001290129.1:c.1774T>G (POMGNT1)	NP_001277058.1:p.Leu592Val
NM_001290130.1:c.1411T>G (POMGNT1)	NP_001277059.1:p.Leu471Val
NM_017739.3:c.1840T>G (POMGNT1)	NP_060209.3:p.Leu614Val
XM_005271010.1:c.1840T>G (POMGNT1)	XP_005271067.1:p.Leu614Val
XM_006710755.1:c.1840T>G (POMGNT1)	XP_006710818.1:p.Leu614Val
XM_006710756.1:c.1840T>G (POMGNT1)	XP_006710819.1:p.Leu614Val
XM_011540460.1:c.678+4205A>C (TSPAN1)	XP_011538762.1:n.678+4205A>C
XM_011540461.1:c.633+4205A>C (TSPAN1)	XP_011538763.1:n.633+4205A>C
XM_011541759.1:c.1774T>G (POMGNT1)	XP_011540061.1:p.Leu592Val
XM_011541760.1:c.1774T>G (POMGNT1)	XP_011540062.1:p.Leu592Val
XM_011541761.1:c.748T>G (POMGNT1)	XP_011540063.1:p.Leu250Val
XM_011540460.3:c.678+4205A>C (TSPAN1)	XP_011538762.1:n.678+4205A>C
XM_011541760.3:c.1774T>G (POMGNT1)	XP_011540062.1:p.Leu592Val
XM_017001690.1:c.1840T>G (POMGNT1)	XP_016857179.1:p.Leu614Val
NM_001243766.2:c.1840T>G (POMGNT1)	NP_001230695.2:p.Leu614Val
NM_001290129.2:c.1774T>G (POMGNT1)	NP_001277058.2:p.Leu592Val
NM_001290130.2:c.1411T>G (POMGNT1)	NP_001277059.2:p.Leu471Val
NM_017739.4:c.1840T>G (POMGNT1) MANE Select	NP_060209.4:p.Leu614Val