Canonical Allele Identifier: CA340170966

Gene: POMGNT1 TSPAN1

Linked Data

• MyVariant Identifiers: chr1:g.46655196C>A (hg19) ; chr1:g.46189524C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46189524C>A , CM000663.2:g.46189524C>A	GRCh38
NC_000001.10:g.46655196C>A , CM000663.1:g.46655196C>A	GRCh37
NC_000001.9:g.46427783C>A	NCBI36
NG_009205.2:g.35782G>T
NG_009205.3:g.35782G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1829G>T (POMGNT1)	ENSP00000379698.4:p.Gly610Val
ENST00000497439.6:n.2001G>T (POMGNT1)
ENST00000684817.1:n.2189G>T (POMGNT1)
ENST00000684898.1:n.2391G>T (POMGNT1)
ENST00000685230.1:c.*1139G>T (POMGNT1)	ENSP00000510305.1:n.*1139G>T
ENST00000685275.1:n.2376G>T (POMGNT1)
ENST00000685444.1:c.1730G>T (POMGNT1)	ENSP00000510762.1:p.Gly577Val
ENST00000685704.1:n.2495G>T (POMGNT1)
ENST00000685833.1:n.4222G>T (POMGNT1)
ENST00000686252.1:n.2903G>T (POMGNT1)
ENST00000686379.1:c.*953G>T (POMGNT1)	ENSP00000508913.1:n.*953G>T
ENST00000686724.1:n.3516G>T (POMGNT1)
ENST00000686737.1:c.1829G>T (POMGNT1)	ENSP00000508736.1:p.Gly610Val
ENST00000687112.1:n.2695G>T (POMGNT1)
ENST00000687149.1:c.1868G>T (POMGNT1)	ENSP00000509745.1:p.Gly623Val
ENST00000687197.1:c.*769G>T (POMGNT1)	ENSP00000510749.1:n.*769G>T
ENST00000687235.1:n.3906G>T (POMGNT1)
ENST00000687613.1:n.2469G>T (POMGNT1)
ENST00000687683.1:c.1829G>T (POMGNT1)	ENSP00000508522.1:p.Gly610Val
ENST00000688032.1:n.2366G>T (POMGNT1)
ENST00000688596.1:n.2480G>T (POMGNT1)
ENST00000688608.1:c.1730G>T (POMGNT1)	ENSP00000508890.1:p.Gly577Val
ENST00000689031.1:n.2281G>T (POMGNT1)
ENST00000689756.1:c.*1461G>T (POMGNT1)	ENSP00000509023.1:n.*1461G>T
ENST00000690377.1:n.2176G>T (POMGNT1)
ENST00000690678.1:c.1829G>T (POMGNT1)	ENSP00000508703.1:p.Gly610Val
ENST00000691185.1:n.300G>T (POMGNT1)
ENST00000691209.1:c.*769G>T (POMGNT1)	ENSP00000510112.1:n.*769G>T
ENST00000691243.1:c.*220G>T (POMGNT1)	ENSP00000510654.1:n.*220G>T
ENST00000692202.1:n.2404G>T (POMGNT1)
ENST00000692322.1:c.*1616G>T (POMGNT1)	ENSP00000509017.1:n.*1616G>T
ENST00000692369.1:c.1829G>T (POMGNT1)	ENSP00000508453.1:p.Gly610Val
ENST00000692599.1:n.3704G>T (POMGNT1)
ENST00000692635.1:c.*704G>T (POMGNT1)	ENSP00000508425.1:n.*704G>T
ENST00000693168.1:n.3605G>T (POMGNT1)
ENST00000693218.1:c.*390G>T (POMGNT1)	ENSP00000510577.1:n.*390G>T
ENST00000693223.1:n.2777G>T (POMGNT1)
ENST00000371984.8:c.1829G>T (POMGNT1) MANE Select	ENSP00000361052.3:p.Gly610Val
ENST00000371984.7:c.1829G>T (POMGNT1)	ENSP00000361052.3:p.Gly610Val
ENST00000371992.1:c.1829G>T (POMGNT1)	ENSP00000361060.1:p.Gly610Val
ENST00000396420.7:c.*1498G>T (POMGNT1)	ENSP00000379698.3:n.*1498G>T
ENST00000475642.1:n.44G>T (POMGNT1)
ENST00000480972.1:n.478G>T (POMGNT1)
NM_001243766.1:c.1829G>T (POMGNT1)	NP_001230695.1:p.Gly610Val
NM_001290129.1:c.1763G>T (POMGNT1)	NP_001277058.1:p.Gly588Val
NM_001290130.1:c.1400G>T (POMGNT1)	NP_001277059.1:p.Gly467Val
NM_017739.3:c.1829G>T (POMGNT1)	NP_060209.3:p.Gly610Val
XM_005271010.1:c.1829G>T (POMGNT1)	XP_005271067.1:p.Gly610Val
XM_006710755.1:c.1829G>T (POMGNT1)	XP_006710818.1:p.Gly610Val
XM_006710756.1:c.1829G>T (POMGNT1)	XP_006710819.1:p.Gly610Val
XM_011540460.1:c.678+4216C>A (TSPAN1)	XP_011538762.1:n.678+4216C>A
XM_011540461.1:c.633+4216C>A (TSPAN1)	XP_011538763.1:n.633+4216C>A
XM_011541759.1:c.1763G>T (POMGNT1)	XP_011540061.1:p.Gly588Val
XM_011541760.1:c.1763G>T (POMGNT1)	XP_011540062.1:p.Gly588Val
XM_011541761.1:c.737G>T (POMGNT1)	XP_011540063.1:p.Gly246Val
XM_011540460.3:c.678+4216C>A (TSPAN1)	XP_011538762.1:n.678+4216C>A
XM_011541760.3:c.1763G>T (POMGNT1)	XP_011540062.1:p.Gly588Val
XM_017001690.1:c.1829G>T (POMGNT1)	XP_016857179.1:p.Gly610Val
NM_001243766.2:c.1829G>T (POMGNT1)	NP_001230695.2:p.Gly610Val
NM_001290129.2:c.1763G>T (POMGNT1)	NP_001277058.2:p.Gly588Val
NM_001290130.2:c.1400G>T (POMGNT1)	NP_001277059.2:p.Gly467Val
NM_017739.4:c.1829G>T (POMGNT1) MANE Select	NP_060209.4:p.Gly610Val