Canonical Allele Identifier: CA21911114

Gene: POMGNT1 TSPAN1

Linked Data

• dbSNP Id: rs937531263
• gnomAD v4: 1-46190577-C-T
• MyVariant Identifiers: chr1:g.46656249C>T (hg19) ; chr1:g.46190577C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46190577C>T , CM000663.2:g.46190577C>T	GRCh38
NC_000001.10:g.46656249C>T , CM000663.1:g.46656249C>T	GRCh37
NC_000001.9:g.46428836C>T	NCBI36
NG_009205.2:g.34729G>A
NG_009205.3:g.34729G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1605-60G>A (POMGNT1)	ENSP00000379698.4:n.1605-60G>A
ENST00000477114.2:n.2167-60G>A (POMGNT1)
ENST00000497439.6:n.1777-60G>A (POMGNT1)
ENST00000684817.1:n.1965-60G>A (POMGNT1)
ENST00000684898.1:n.2167-60G>A (POMGNT1)
ENST00000685230.1:c.*915-60G>A (POMGNT1)	ENSP00000510305.1:n.*915-60G>A
ENST00000685275.1:n.2152-60G>A (POMGNT1)
ENST00000685444.1:c.1506-60G>A (POMGNT1)	ENSP00000510762.1:n.1506-60G>A
ENST00000685704.1:n.2211G>A (POMGNT1)
ENST00000685775.1:n.4587G>A (POMGNT1)
ENST00000685833.1:n.3938G>A (POMGNT1)
ENST00000686252.1:n.2679-60G>A (POMGNT1)
ENST00000686379.1:c.*729-60G>A (POMGNT1)	ENSP00000508913.1:n.*729-60G>A
ENST00000686724.1:n.3232G>A (POMGNT1)
ENST00000686737.1:c.1605-60G>A (POMGNT1)	ENSP00000508736.1:n.1605-60G>A
ENST00000687112.1:n.2471-60G>A (POMGNT1)
ENST00000687149.1:c.1584G>A (POMGNT1)	ENSP00000509745.1:p.Val528=
ENST00000687197.1:c.*545-60G>A (POMGNT1)	ENSP00000510749.1:n.*545-60G>A
ENST00000687235.1:n.3622G>A (POMGNT1)
ENST00000687613.1:n.2290-588G>A (POMGNT1)
ENST00000687683.1:c.1605-60G>A (POMGNT1)	ENSP00000508522.1:n.1605-60G>A
ENST00000688032.1:n.2142-60G>A (POMGNT1)
ENST00000688596.1:n.2256-60G>A (POMGNT1)
ENST00000688608.1:c.1506-60G>A (POMGNT1)	ENSP00000508890.1:n.1506-60G>A
ENST00000688919.1:n.2943G>A (POMGNT1)
ENST00000689031.1:n.2102-588G>A (POMGNT1)
ENST00000689717.1:n.1919G>A (POMGNT1)
ENST00000689756.1:c.*1237-60G>A (POMGNT1)	ENSP00000509023.1:n.*1237-60G>A
ENST00000690377.1:n.1952-60G>A (POMGNT1)
ENST00000690678.1:c.1605-60G>A (POMGNT1)	ENSP00000508703.1:n.1605-60G>A
ENST00000691209.1:c.*545-60G>A (POMGNT1)	ENSP00000510112.1:n.*545-60G>A
ENST00000691243.1:c.1580-60G>A (POMGNT1)	ENSP00000510654.1:n.1580-60G>A
ENST00000692169.1:n.3209G>A (POMGNT1)
ENST00000692202.1:n.2180-60G>A (POMGNT1)
ENST00000692322.1:c.*1392-60G>A (POMGNT1)	ENSP00000509017.1:n.*1392-60G>A
ENST00000692369.1:c.1605-60G>A (POMGNT1)	ENSP00000508453.1:n.1605-60G>A
ENST00000692599.1:n.3480-60G>A (POMGNT1)
ENST00000692635.1:c.*480-60G>A (POMGNT1)	ENSP00000508425.1:n.*480-60G>A
ENST00000693168.1:n.3321G>A (POMGNT1)
ENST00000693218.1:c.*106G>A (POMGNT1)	ENSP00000510577.1:n.*106G>A
ENST00000693223.1:n.2553-60G>A (POMGNT1)
ENST00000693365.1:n.5694G>A (POMGNT1)
ENST00000371984.8:c.1605-60G>A (POMGNT1) MANE Select	ENSP00000361052.3:n.1605-60G>A
ENST00000371984.7:c.1605-60G>A (POMGNT1)	ENSP00000361052.3:n.1605-60G>A
ENST00000371992.1:c.1605-60G>A (POMGNT1)	ENSP00000361060.1:n.1605-60G>A
ENST00000396420.7:c.*1274-60G>A (POMGNT1)	ENSP00000379698.3:n.*1274-60G>A
ENST00000480972.1:n.254-60G>A (POMGNT1)
ENST00000485714.1:n.2446G>A (POMGNT1)
NM_001243766.1:c.1605-60G>A (POMGNT1)	NP_001230695.1:n.1605-60G>A
NM_001290129.1:c.1539-60G>A (POMGNT1)	NP_001277058.1:n.1539-60G>A
NM_001290130.1:c.1176-60G>A (POMGNT1)	NP_001277059.1:n.1176-60G>A
NM_017739.3:c.1605-60G>A (POMGNT1)	NP_060209.3:n.1605-60G>A
XM_005271010.1:c.1605-60G>A (POMGNT1)	XP_005271067.1:n.1605-60G>A
XM_006710755.1:c.1605-60G>A (POMGNT1)	XP_006710818.1:n.1605-60G>A
XM_006710756.1:c.1605-60G>A (POMGNT1)	XP_006710819.1:n.1605-60G>A
XM_011540460.1:c.678+5269C>T (TSPAN1)	XP_011538762.1:n.678+5269C>T
XM_011540461.1:c.633+5269C>T (TSPAN1)	XP_011538763.1:n.633+5269C>T
XM_011541759.1:c.1539-60G>A (POMGNT1)	XP_011540061.1:n.1539-60G>A
XM_011541760.1:c.1539-60G>A (POMGNT1)	XP_011540062.1:n.1539-60G>A
XM_011541761.1:c.513-60G>A (POMGNT1)	XP_011540063.1:n.513-60G>A
XM_011540460.3:c.678+5269C>T (TSPAN1)	XP_011538762.1:n.678+5269C>T
XM_011541760.3:c.1539-60G>A (POMGNT1)	XP_011540062.1:n.1539-60G>A
XM_017001690.1:c.1605-60G>A (POMGNT1)	XP_016857179.1:n.1605-60G>A
NM_001243766.2:c.1605-60G>A (POMGNT1)	NP_001230695.2:n.1605-60G>A
NM_001290129.2:c.1539-60G>A (POMGNT1)	NP_001277058.2:n.1539-60G>A
NM_001290130.2:c.1176-60G>A (POMGNT1)	NP_001277059.2:n.1176-60G>A
NM_017739.4:c.1605-60G>A (POMGNT1) MANE Select	NP_060209.4:n.1605-60G>A