Canonical Allele Identifier: CA833305

Gene: POMGNT1 TSPAN1

Linked Data

• dbSNP Id: rs758346135
• ExAC: 1:46656357 A / G
• gnomAD v2: 1-46656357-A-G
• gnomAD v4: 1-46190685-A-G
• MyVariant Identifiers: chr1:g.46656357A>G (hg19) ; chr1:g.46190685A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46190685A>G , CM000663.2:g.46190685A>G	GRCh38
NC_000001.10:g.46656357A>G , CM000663.1:g.46656357A>G	GRCh37
NC_000001.9:g.46428944A>G	NCBI36
NG_009205.2:g.34621T>C
NG_009205.3:g.34621T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000396420.8:c.1604+35T>C (POMGNT1)	ENSP00000379698.4:n.1604+35T>C
ENST00000477114.2:n.2166+35T>C (POMGNT1)
ENST00000497439.6:n.1776+35T>C (POMGNT1)
ENST00000684817.1:n.1964+35T>C (POMGNT1)
ENST00000684898.1:n.2166+35T>C (POMGNT1)
ENST00000685230.1:c.*914+35T>C (POMGNT1)	ENSP00000510305.1:n.*914+35T>C
ENST00000685275.1:n.2151+35T>C (POMGNT1)
ENST00000685444.1:c.1505+35T>C (POMGNT1)	ENSP00000510762.1:n.1505+35T>C
ENST00000685704.1:n.2166+35T>C (POMGNT1)
ENST00000685775.1:n.4479T>C (POMGNT1)
ENST00000685833.1:n.3830T>C (POMGNT1)
ENST00000686252.1:n.2678+35T>C (POMGNT1)
ENST00000686379.1:c.*728+35T>C (POMGNT1)	ENSP00000508913.1:n.*728+35T>C
ENST00000686724.1:n.3124T>C (POMGNT1)
ENST00000686737.1:c.1604+35T>C (POMGNT1)	ENSP00000508736.1:n.1604+35T>C
ENST00000687112.1:n.2470+35T>C (POMGNT1)
ENST00000687149.1:c.1540-64T>C (POMGNT1)	ENSP00000509745.1:n.1540-64T>C
ENST00000687197.1:c.*544+35T>C (POMGNT1)	ENSP00000510749.1:n.*544+35T>C
ENST00000687235.1:n.3514T>C (POMGNT1)
ENST00000687613.1:n.2290-696T>C (POMGNT1)
ENST00000687683.1:c.1604+35T>C (POMGNT1)	ENSP00000508522.1:n.1604+35T>C
ENST00000688032.1:n.2141+60T>C (POMGNT1)
ENST00000688596.1:n.2255+35T>C (POMGNT1)
ENST00000688608.1:c.1505+35T>C (POMGNT1)	ENSP00000508890.1:n.1505+35T>C
ENST00000688919.1:n.2835T>C (POMGNT1)
ENST00000689031.1:n.2102-696T>C (POMGNT1)
ENST00000689717.1:n.1811T>C (POMGNT1)
ENST00000689756.1:c.*1236+35T>C (POMGNT1)	ENSP00000509023.1:n.*1236+35T>C
ENST00000690377.1:n.1951+35T>C (POMGNT1)
ENST00000690678.1:c.1604+35T>C (POMGNT1)	ENSP00000508703.1:n.1604+35T>C
ENST00000691209.1:c.*544+35T>C (POMGNT1)	ENSP00000510112.1:n.*544+35T>C
ENST00000691243.1:c.1579+60T>C (POMGNT1)	ENSP00000510654.1:n.1579+60T>C
ENST00000692169.1:n.3101T>C (POMGNT1)
ENST00000692202.1:n.2179+35T>C (POMGNT1)
ENST00000692322.1:c.*1392-168T>C (POMGNT1)	ENSP00000509017.1:n.*1392-168T>C
ENST00000692369.1:c.1604+35T>C (POMGNT1)	ENSP00000508453.1:n.1604+35T>C
ENST00000692599.1:n.3479+35T>C (POMGNT1)
ENST00000692635.1:c.*480-168T>C (POMGNT1)	ENSP00000508425.1:n.*480-168T>C
ENST00000693168.1:n.3213T>C (POMGNT1)
ENST00000693218.1:c.1639T>C (POMGNT1)	ENSP00000510577.1:p.Ter547Gln
ENST00000693223.1:n.2552+35T>C (POMGNT1)
ENST00000693365.1:n.5586T>C (POMGNT1)
ENST00000371984.8:c.1604+35T>C (POMGNT1) MANE Select	ENSP00000361052.3:n.1604+35T>C
ENST00000371984.7:c.1604+35T>C (POMGNT1)	ENSP00000361052.3:n.1604+35T>C
ENST00000371992.1:c.1604+35T>C (POMGNT1)	ENSP00000361060.1:n.1604+35T>C
ENST00000396420.7:c.*1273+35T>C (POMGNT1)	ENSP00000379698.3:n.*1273+35T>C
ENST00000480972.1:n.253+35T>C (POMGNT1)
ENST00000485714.1:n.2338T>C (POMGNT1)
NM_001243766.1:c.1604+35T>C (POMGNT1)	NP_001230695.1:n.1604+35T>C
NM_001290129.1:c.1538+35T>C (POMGNT1)	NP_001277058.1:n.1538+35T>C
NM_001290130.1:c.1175+35T>C (POMGNT1)	NP_001277059.1:n.1175+35T>C
NM_017739.3:c.1604+35T>C (POMGNT1)	NP_060209.3:n.1604+35T>C
XM_005271010.1:c.1604+35T>C (POMGNT1)	XP_005271067.1:n.1604+35T>C
XM_006710755.1:c.1604+35T>C (POMGNT1)	XP_006710818.1:n.1604+35T>C
XM_006710756.1:c.1604+35T>C (POMGNT1)	XP_006710819.1:n.1604+35T>C
XM_011540460.1:c.678+5377A>G (TSPAN1)	XP_011538762.1:n.678+5377A>G
XM_011540461.1:c.633+5377A>G (TSPAN1)	XP_011538763.1:n.633+5377A>G
XM_011541759.1:c.1538+35T>C (POMGNT1)	XP_011540061.1:n.1538+35T>C
XM_011541760.1:c.1538+35T>C (POMGNT1)	XP_011540062.1:n.1538+35T>C
XM_011541761.1:c.512+35T>C (POMGNT1)	XP_011540063.1:n.512+35T>C
XM_011540460.3:c.678+5377A>G (TSPAN1)	XP_011538762.1:n.678+5377A>G
XM_011541760.3:c.1538+35T>C (POMGNT1)	XP_011540062.1:n.1538+35T>C
XM_017001690.1:c.1604+35T>C (POMGNT1)	XP_016857179.1:n.1604+35T>C
NM_001243766.2:c.1604+35T>C (POMGNT1)	NP_001230695.2:n.1604+35T>C
NM_001290129.2:c.1538+35T>C (POMGNT1)	NP_001277058.2:n.1538+35T>C
NM_001290130.2:c.1175+35T>C (POMGNT1)	NP_001277059.2:n.1175+35T>C
NM_017739.4:c.1604+35T>C (POMGNT1) MANE Select	NP_060209.4:n.1604+35T>C