Canonical Allele Identifier: CA340182651

Gene: POMGNT1 TSPAN1

Linked Data

• gnomAD v4: 1-46194302-G-A
• COSMIC: COSM3865675 ; COSM3865676
• MyVariant Identifiers: chr1:g.46659974G>A (hg19) ; chr1:g.46194302G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46194302G>A , CM000663.2:g.46194302G>A	GRCh38
NC_000001.10:g.46659974G>A , CM000663.1:g.46659974G>A	GRCh37
NC_000001.9:g.46432561G>A	NCBI36
NG_009205.2:g.31004C>T
NG_009205.3:g.31004C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.851C>T (POMGNT1)	ENSP00000379698.4:p.Pro284Leu
ENST00000477114.2:n.1023C>T (POMGNT1)
ENST00000497439.6:n.1023C>T (POMGNT1)
ENST00000684817.1:n.1211C>T (POMGNT1)
ENST00000684898.1:n.1023C>T (POMGNT1)
ENST00000685230.1:c.*130C>T (POMGNT1)	ENSP00000510305.1:n.*130C>T
ENST00000685275.1:n.1008C>T (POMGNT1)
ENST00000685444.1:c.752C>T (POMGNT1)	ENSP00000510762.1:p.Pro251Leu
ENST00000685704.1:n.1023C>T (POMGNT1)
ENST00000685775.1:n.1988C>T (POMGNT1)
ENST00000685833.1:n.1339C>T (POMGNT1)
ENST00000686252.1:n.1925C>T (POMGNT1)
ENST00000686379.1:c.851C>T (POMGNT1)	ENSP00000508913.1:p.Pro284Leu
ENST00000686724.1:n.1023C>T (POMGNT1)
ENST00000686737.1:c.851C>T (POMGNT1)	ENSP00000508736.1:p.Pro284Leu
ENST00000687112.1:n.1023C>T (POMGNT1)
ENST00000687149.1:c.851C>T (POMGNT1)	ENSP00000509745.1:p.Pro284Leu
ENST00000687197.1:c.851C>T (POMGNT1)	ENSP00000510749.1:p.Pro284Leu
ENST00000687235.1:n.1023C>T (POMGNT1)
ENST00000687613.1:n.1211C>T (POMGNT1)
ENST00000687683.1:c.851C>T (POMGNT1)	ENSP00000508522.1:p.Pro284Leu
ENST00000688032.1:n.1023C>T (POMGNT1)
ENST00000688596.1:n.1023C>T (POMGNT1)
ENST00000688608.1:c.752C>T (POMGNT1)	ENSP00000508890.1:p.Pro251Leu
ENST00000688919.1:n.1657C>T (POMGNT1)
ENST00000689031.1:n.1023C>T (POMGNT1)
ENST00000689717.1:n.1023C>T (POMGNT1)
ENST00000689756.1:c.*483C>T (POMGNT1)	ENSP00000509023.1:n.*483C>T
ENST00000690377.1:n.1023C>T (POMGNT1)
ENST00000690678.1:c.851C>T (POMGNT1)	ENSP00000508703.1:p.Pro284Leu
ENST00000691209.1:c.851C>T (POMGNT1)	ENSP00000510112.1:p.Pro284Leu
ENST00000691243.1:c.851C>T (POMGNT1)	ENSP00000510654.1:p.Pro284Leu
ENST00000692169.1:n.1023C>T (POMGNT1)
ENST00000692202.1:n.1211C>T (POMGNT1)
ENST00000692322.1:c.*703C>T (POMGNT1)	ENSP00000509017.1:n.*703C>T
ENST00000692369.1:c.851C>T (POMGNT1)	ENSP00000508453.1:p.Pro284Leu
ENST00000692599.1:n.1023C>T (POMGNT1)
ENST00000692635.1:c.851C>T (POMGNT1)	ENSP00000508425.1:p.Pro284Leu
ENST00000693168.1:n.1023C>T (POMGNT1)
ENST00000693218.1:c.851C>T (POMGNT1)	ENSP00000510577.1:p.Pro284Leu
ENST00000693223.1:n.1495C>T (POMGNT1)
ENST00000693365.1:n.2791C>T (POMGNT1)
ENST00000371984.8:c.851C>T (POMGNT1) MANE Select	ENSP00000361052.3:p.Pro284Leu
ENST00000371984.7:c.851C>T (POMGNT1)	ENSP00000361052.3:p.Pro284Leu
ENST00000371992.1:c.851C>T (POMGNT1)	ENSP00000361060.1:p.Pro284Leu
ENST00000396420.7:c.*130C>T (POMGNT1)	ENSP00000379698.3:n.*130C>T
ENST00000477114.1:n.199C>T (POMGNT1)
NM_001243766.1:c.851C>T (POMGNT1)	NP_001230695.1:p.Pro284Leu
NM_001290129.1:c.785C>T (POMGNT1)	NP_001277058.1:p.Pro262Leu
NM_001290130.1:c.422C>T (POMGNT1)	NP_001277059.1:p.Pro141Leu
NM_017739.3:c.851C>T (POMGNT1)	NP_060209.3:p.Pro284Leu
XM_005271010.1:c.851C>T (POMGNT1)	XP_005271067.1:p.Pro284Leu
XM_006710755.1:c.851C>T (POMGNT1)	XP_006710818.1:p.Pro284Leu
XM_006710756.1:c.851C>T (POMGNT1)	XP_006710819.1:p.Pro284Leu
XM_011540460.1:c.679-1900G>A (TSPAN1)	XP_011538762.1:n.679-1900G>A
XM_011540461.1:c.634-1900G>A (TSPAN1)	XP_011538763.1:n.634-1900G>A
XM_011541759.1:c.785C>T (POMGNT1)	XP_011540061.1:p.Pro262Leu
XM_011541760.1:c.785C>T (POMGNT1)	XP_011540062.1:p.Pro262Leu
XM_011541761.1:c.-243C>T (POMGNT1)	XP_011540063.1:n.-243C>T
XR_946706.1:n.1010C>T (POMGNT1)
XM_011540460.3:c.679-1900G>A (TSPAN1)	XP_011538762.1:n.679-1900G>A
XM_011541760.3:c.785C>T (POMGNT1)	XP_011540062.1:p.Pro262Leu
XM_017001690.1:c.851C>T (POMGNT1)	XP_016857179.1:p.Pro284Leu
NM_001243766.2:c.851C>T (POMGNT1)	NP_001230695.2:p.Pro284Leu
NM_001290129.2:c.785C>T (POMGNT1)	NP_001277058.2:p.Pro262Leu
NM_001290130.2:c.422C>T (POMGNT1)	NP_001277059.2:p.Pro141Leu
NM_017739.4:c.851C>T (POMGNT1) MANE Select	NP_060209.4:p.Pro284Leu