Canonical Allele Identifier: CA833248

Gene: POMGNT1 TSPAN1

Linked Data

• dbSNP Id: rs386834019
• ExAC: 1:46655542 C / G
• gnomAD v2: 1-46655542-C-G
• gnomAD v3: 1-46189870-C-G
• gnomAD v4: 1-46189870-C-G
• MyVariant Identifiers: chr1:g.46655542C>G (hg19) ; chr1:g.46189870C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46189870C>G , CM000663.2:g.46189870C>G	GRCh38
NC_000001.10:g.46655542C>G , CM000663.1:g.46655542C>G	GRCh37
NC_000001.9:g.46428129C>G	NCBI36
NG_009205.2:g.35436G>C
NG_009205.3:g.35436G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1769G>C (POMGNT1)	ENSP00000379698.4:p.Trp590Ser
ENST00000497439.6:n.1941G>C (POMGNT1)
ENST00000684817.1:n.2129G>C (POMGNT1)
ENST00000684898.1:n.2331G>C (POMGNT1)
ENST00000685230.1:c.*1079G>C (POMGNT1)	ENSP00000510305.1:n.*1079G>C
ENST00000685275.1:n.2316G>C (POMGNT1)
ENST00000685444.1:c.1670G>C (POMGNT1)	ENSP00000510762.1:p.Trp557Ser
ENST00000685704.1:n.2435G>C (POMGNT1)
ENST00000685833.1:n.4162G>C (POMGNT1)
ENST00000686252.1:n.2843G>C (POMGNT1)
ENST00000686379.1:c.*893G>C (POMGNT1)	ENSP00000508913.1:n.*893G>C
ENST00000686724.1:n.3456G>C (POMGNT1)
ENST00000686737.1:c.1769G>C (POMGNT1)	ENSP00000508736.1:p.Trp590Ser
ENST00000687112.1:n.2635G>C (POMGNT1)
ENST00000687149.1:c.1808G>C (POMGNT1)	ENSP00000509745.1:p.Trp603Ser
ENST00000687197.1:c.*709G>C (POMGNT1)	ENSP00000510749.1:n.*709G>C
ENST00000687235.1:n.3846G>C (POMGNT1)
ENST00000687613.1:n.2409G>C (POMGNT1)
ENST00000687683.1:c.1769G>C (POMGNT1)	ENSP00000508522.1:p.Trp590Ser
ENST00000688032.1:n.2306G>C (POMGNT1)
ENST00000688596.1:n.2420G>C (POMGNT1)
ENST00000688608.1:c.1670G>C (POMGNT1)	ENSP00000508890.1:p.Trp557Ser
ENST00000689031.1:n.2221G>C (POMGNT1)
ENST00000689756.1:c.*1401G>C (POMGNT1)	ENSP00000509023.1:n.*1401G>C
ENST00000690377.1:n.2116G>C (POMGNT1)
ENST00000690678.1:c.1769G>C (POMGNT1)	ENSP00000508703.1:p.Trp590Ser
ENST00000691209.1:c.*709G>C (POMGNT1)	ENSP00000510112.1:n.*709G>C
ENST00000691243.1:c.*160G>C (POMGNT1)	ENSP00000510654.1:n.*160G>C
ENST00000692202.1:n.2344G>C (POMGNT1)
ENST00000692322.1:c.*1556G>C (POMGNT1)	ENSP00000509017.1:n.*1556G>C
ENST00000692369.1:c.1769G>C (POMGNT1)	ENSP00000508453.1:p.Trp590Ser
ENST00000692599.1:n.3644G>C (POMGNT1)
ENST00000692635.1:c.*644G>C (POMGNT1)	ENSP00000508425.1:n.*644G>C
ENST00000693168.1:n.3545G>C (POMGNT1)
ENST00000693218.1:c.*330G>C (POMGNT1)	ENSP00000510577.1:n.*330G>C
ENST00000693223.1:n.2717G>C (POMGNT1)
ENST00000371984.8:c.1769G>C (POMGNT1) MANE Select	ENSP00000361052.3:p.Trp590Ser
ENST00000371984.7:c.1769G>C (POMGNT1)	ENSP00000361052.3:p.Trp590Ser
ENST00000371992.1:c.1769G>C (POMGNT1)	ENSP00000361060.1:p.Trp590Ser
ENST00000396420.7:c.*1438G>C (POMGNT1)	ENSP00000379698.3:n.*1438G>C
ENST00000480972.1:n.418G>C (POMGNT1)
NM_001243766.1:c.1769G>C (POMGNT1)	NP_001230695.1:p.Trp590Ser
NM_001290129.1:c.1703G>C (POMGNT1)	NP_001277058.1:p.Trp568Ser
NM_001290130.1:c.1340G>C (POMGNT1)	NP_001277059.1:p.Trp447Ser
NM_017739.3:c.1769G>C (POMGNT1)	NP_060209.3:p.Trp590Ser
XM_005271010.1:c.1769G>C (POMGNT1)	XP_005271067.1:p.Trp590Ser
XM_006710755.1:c.1769G>C (POMGNT1)	XP_006710818.1:p.Trp590Ser
XM_006710756.1:c.1769G>C (POMGNT1)	XP_006710819.1:p.Trp590Ser
XM_011540460.1:c.678+4562C>G (TSPAN1)	XP_011538762.1:n.678+4562C>G
XM_011540461.1:c.633+4562C>G (TSPAN1)	XP_011538763.1:n.633+4562C>G
XM_011541759.1:c.1703G>C (POMGNT1)	XP_011540061.1:p.Trp568Ser
XM_011541760.1:c.1703G>C (POMGNT1)	XP_011540062.1:p.Trp568Ser
XM_011541761.1:c.677G>C (POMGNT1)	XP_011540063.1:p.Trp226Ser
XM_011540460.3:c.678+4562C>G (TSPAN1)	XP_011538762.1:n.678+4562C>G
XM_011541760.3:c.1703G>C (POMGNT1)	XP_011540062.1:p.Trp568Ser
XM_017001690.1:c.1769G>C (POMGNT1)	XP_016857179.1:p.Trp590Ser
NM_001243766.2:c.1769G>C (POMGNT1)	NP_001230695.2:p.Trp590Ser
NM_001290129.2:c.1703G>C (POMGNT1)	NP_001277058.2:p.Trp568Ser
NM_001290130.2:c.1340G>C (POMGNT1)	NP_001277059.2:p.Trp447Ser
NM_017739.4:c.1769G>C (POMGNT1) MANE Select	NP_060209.4:p.Trp590Ser