Canonical Allele Identifier: CA340176752

Gene: POMGNT1 TSPAN1

Linked Data

• MyVariant Identifiers: chr1:g.46658231C>A (hg19) ; chr1:g.46192559C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46192559C>A , CM000663.2:g.46192559C>A	GRCh38
NC_000001.10:g.46658231C>A , CM000663.1:g.46658231C>A	GRCh37
NC_000001.9:g.46430818C>A	NCBI36
NG_009205.2:g.32747G>T
NG_009205.3:g.32747G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1243G>T (POMGNT1)	ENSP00000379698.4:p.Glu415Ter
ENST00000477114.2:n.1805G>T (POMGNT1)
ENST00000497439.6:n.1415G>T (POMGNT1)
ENST00000684817.1:n.1603G>T (POMGNT1)
ENST00000684898.1:n.1805G>T (POMGNT1)
ENST00000685230.1:c.*553G>T (POMGNT1)	ENSP00000510305.1:n.*553G>T
ENST00000685275.1:n.1790G>T (POMGNT1)
ENST00000685444.1:c.1144G>T (POMGNT1)	ENSP00000510762.1:p.Glu382Ter
ENST00000685704.1:n.1805G>T (POMGNT1)
ENST00000685775.1:n.2770G>T (POMGNT1)
ENST00000685833.1:n.2121G>T (POMGNT1)
ENST00000686252.1:n.2317G>T (POMGNT1)
ENST00000686379.1:c.*367G>T (POMGNT1)	ENSP00000508913.1:n.*367G>T
ENST00000686724.1:n.1415G>T (POMGNT1)
ENST00000686737.1:c.1243G>T (POMGNT1)	ENSP00000508736.1:p.Glu415Ter
ENST00000687112.1:n.2109G>T (POMGNT1)
ENST00000687149.1:c.1243G>T (POMGNT1)	ENSP00000509745.1:p.Glu415Ter
ENST00000687197.1:c.*183G>T (POMGNT1)	ENSP00000510749.1:n.*183G>T
ENST00000687235.1:n.1805G>T (POMGNT1)
ENST00000687613.1:n.1993G>T (POMGNT1)
ENST00000687683.1:c.1243G>T (POMGNT1)	ENSP00000508522.1:p.Glu415Ter
ENST00000688032.1:n.1805G>T (POMGNT1)
ENST00000688596.1:n.1894G>T (POMGNT1)
ENST00000688608.1:c.1144G>T (POMGNT1)	ENSP00000508890.1:p.Glu382Ter
ENST00000688919.1:n.2439G>T (POMGNT1)
ENST00000689031.1:n.1805G>T (POMGNT1)
ENST00000689717.1:n.1415G>T (POMGNT1)
ENST00000689756.1:c.*875G>T (POMGNT1)	ENSP00000509023.1:n.*875G>T
ENST00000690377.1:n.1590G>T (POMGNT1)
ENST00000690678.1:c.1243G>T (POMGNT1)	ENSP00000508703.1:p.Glu415Ter
ENST00000691209.1:c.*183G>T (POMGNT1)	ENSP00000510112.1:n.*183G>T
ENST00000691243.1:c.1243G>T (POMGNT1)	ENSP00000510654.1:p.Glu415Ter
ENST00000692169.1:n.1392G>T (POMGNT1)
ENST00000692202.1:n.1818G>T (POMGNT1)
ENST00000692322.1:c.*1095G>T (POMGNT1)	ENSP00000509017.1:n.*1095G>T
ENST00000692369.1:c.1243G>T (POMGNT1)	ENSP00000508453.1:p.Glu415Ter
ENST00000692599.1:n.1805G>T (POMGNT1)
ENST00000692635.1:c.*183G>T (POMGNT1)	ENSP00000508425.1:n.*183G>T
ENST00000693168.1:n.1504G>T (POMGNT1)
ENST00000693218.1:c.1243G>T (POMGNT1)	ENSP00000510577.1:p.Glu415Ter
ENST00000693223.1:n.2191G>T (POMGNT1)
ENST00000693365.1:n.3877G>T (POMGNT1)
ENST00000371984.8:c.1243G>T (POMGNT1) MANE Select	ENSP00000361052.3:p.Glu415Ter
ENST00000371984.7:c.1243G>T (POMGNT1)	ENSP00000361052.3:p.Glu415Ter
ENST00000371992.1:c.1243G>T (POMGNT1)	ENSP00000361060.1:p.Glu415Ter
ENST00000396420.7:c.*912G>T (POMGNT1)	ENSP00000379698.3:n.*912G>T
ENST00000485714.1:n.629G>T (POMGNT1)
NM_001243766.1:c.1243G>T (POMGNT1)	NP_001230695.1:p.Glu415Ter
NM_001290129.1:c.1177G>T (POMGNT1)	NP_001277058.1:p.Glu393Ter
NM_001290130.1:c.814G>T (POMGNT1)	NP_001277059.1:p.Glu272Ter
NM_017739.3:c.1243G>T (POMGNT1)	NP_060209.3:p.Glu415Ter
XM_005271010.1:c.1243G>T (POMGNT1)	XP_005271067.1:p.Glu415Ter
XM_006710755.1:c.1243G>T (POMGNT1)	XP_006710818.1:p.Glu415Ter
XM_006710756.1:c.1243G>T (POMGNT1)	XP_006710819.1:p.Glu415Ter
XM_011540460.1:c.679-3643C>A (TSPAN1)	XP_011538762.1:n.679-3643C>A
XM_011540461.1:c.634-3643C>A (TSPAN1)	XP_011538763.1:n.634-3643C>A
XM_011541759.1:c.1177G>T (POMGNT1)	XP_011540061.1:p.Glu393Ter
XM_011541760.1:c.1177G>T (POMGNT1)	XP_011540062.1:p.Glu393Ter
XM_011541761.1:c.151G>T (POMGNT1)	XP_011540063.1:p.Glu51Ter
XR_946706.1:n.1403G>T (POMGNT1)
XM_011540460.3:c.679-3643C>A (TSPAN1)	XP_011538762.1:n.679-3643C>A
XM_011541760.3:c.1177G>T (POMGNT1)	XP_011540062.1:p.Glu393Ter
XM_017001690.1:c.1243G>T (POMGNT1)	XP_016857179.1:p.Glu415Ter
NM_001243766.2:c.1243G>T (POMGNT1)	NP_001230695.2:p.Glu415Ter
NM_001290129.2:c.1177G>T (POMGNT1)	NP_001277058.2:p.Glu393Ter
NM_001290130.2:c.814G>T (POMGNT1)	NP_001277059.2:p.Glu272Ter
NM_017739.4:c.1243G>T (POMGNT1) MANE Select	NP_060209.4:p.Glu415Ter