Canonical Allele Identifier: CA833255

Gene: POMGNT1 TSPAN1

Linked Data

• ClinVar Variation Id: 2932787
• ClinVar RCV Id: RCV003797953 ; RCV003889336
• dbSNP Id: rs772158768
• ExAC: 1:46655572 C / T
• gnomAD v2: 1-46655572-C-T
• gnomAD v3: 1-46189900-C-T
• gnomAD v4: 1-46189900-C-T
• MyVariant Identifiers: chr1:g.46655572C>T (hg19) ; chr1:g.46189900C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46189900C>T , CM000663.2:g.46189900C>T	GRCh38
NC_000001.10:g.46655572C>T , CM000663.1:g.46655572C>T	GRCh37
NC_000001.9:g.46428159C>T	NCBI36
NG_009205.2:g.35406G>A
NG_009205.3:g.35406G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1739G>A (POMGNT1)	ENSP00000379698.4:p.Arg580Gln
ENST00000497439.6:n.1911G>A (POMGNT1)
ENST00000684817.1:n.2099G>A (POMGNT1)
ENST00000684898.1:n.2301G>A (POMGNT1)
ENST00000685230.1:c.*1049G>A (POMGNT1)	ENSP00000510305.1:n.*1049G>A
ENST00000685275.1:n.2286G>A (POMGNT1)
ENST00000685444.1:c.1640G>A (POMGNT1)	ENSP00000510762.1:p.Arg547Gln
ENST00000685704.1:n.2405G>A (POMGNT1)
ENST00000685833.1:n.4132G>A (POMGNT1)
ENST00000686252.1:n.2813G>A (POMGNT1)
ENST00000686379.1:c.*863G>A (POMGNT1)	ENSP00000508913.1:n.*863G>A
ENST00000686724.1:n.3426G>A (POMGNT1)
ENST00000686737.1:c.1739G>A (POMGNT1)	ENSP00000508736.1:p.Arg580Gln
ENST00000687112.1:n.2605G>A (POMGNT1)
ENST00000687149.1:c.1778G>A (POMGNT1)	ENSP00000509745.1:p.Arg593Gln
ENST00000687197.1:c.*679G>A (POMGNT1)	ENSP00000510749.1:n.*679G>A
ENST00000687235.1:n.3816G>A (POMGNT1)
ENST00000687613.1:n.2379G>A (POMGNT1)
ENST00000687683.1:c.1739G>A (POMGNT1)	ENSP00000508522.1:p.Arg580Gln
ENST00000688032.1:n.2276G>A (POMGNT1)
ENST00000688596.1:n.2390G>A (POMGNT1)
ENST00000688608.1:c.1640G>A (POMGNT1)	ENSP00000508890.1:p.Arg547Gln
ENST00000689031.1:n.2191G>A (POMGNT1)
ENST00000689756.1:c.*1371G>A (POMGNT1)	ENSP00000509023.1:n.*1371G>A
ENST00000690377.1:n.2086G>A (POMGNT1)
ENST00000690678.1:c.1739G>A (POMGNT1)	ENSP00000508703.1:p.Arg580Gln
ENST00000691209.1:c.*679G>A (POMGNT1)	ENSP00000510112.1:n.*679G>A
ENST00000691243.1:c.*130G>A (POMGNT1)	ENSP00000510654.1:n.*130G>A
ENST00000692202.1:n.2314G>A (POMGNT1)
ENST00000692322.1:c.*1526G>A (POMGNT1)	ENSP00000509017.1:n.*1526G>A
ENST00000692369.1:c.1739G>A (POMGNT1)	ENSP00000508453.1:p.Arg580Gln
ENST00000692599.1:n.3614G>A (POMGNT1)
ENST00000692635.1:c.*614G>A (POMGNT1)	ENSP00000508425.1:n.*614G>A
ENST00000693168.1:n.3515G>A (POMGNT1)
ENST00000693218.1:c.*300G>A (POMGNT1)	ENSP00000510577.1:n.*300G>A
ENST00000693223.1:n.2687G>A (POMGNT1)
ENST00000371984.8:c.1739G>A (POMGNT1) MANE Select	ENSP00000361052.3:p.Arg580Gln
ENST00000371984.7:c.1739G>A (POMGNT1)	ENSP00000361052.3:p.Arg580Gln
ENST00000371992.1:c.1739G>A (POMGNT1)	ENSP00000361060.1:p.Arg580Gln
ENST00000396420.7:c.*1408G>A (POMGNT1)	ENSP00000379698.3:n.*1408G>A
ENST00000480972.1:n.388G>A (POMGNT1)
NM_001243766.1:c.1739G>A (POMGNT1)	NP_001230695.1:p.Arg580Gln
NM_001290129.1:c.1673G>A (POMGNT1)	NP_001277058.1:p.Arg558Gln
NM_001290130.1:c.1310G>A (POMGNT1)	NP_001277059.1:p.Arg437Gln
NM_017739.3:c.1739G>A (POMGNT1)	NP_060209.3:p.Arg580Gln
XM_005271010.1:c.1739G>A (POMGNT1)	XP_005271067.1:p.Arg580Gln
XM_006710755.1:c.1739G>A (POMGNT1)	XP_006710818.1:p.Arg580Gln
XM_006710756.1:c.1739G>A (POMGNT1)	XP_006710819.1:p.Arg580Gln
XM_011540460.1:c.678+4592C>T (TSPAN1)	XP_011538762.1:n.678+4592C>T
XM_011540461.1:c.633+4592C>T (TSPAN1)	XP_011538763.1:n.633+4592C>T
XM_011541759.1:c.1673G>A (POMGNT1)	XP_011540061.1:p.Arg558Gln
XM_011541760.1:c.1673G>A (POMGNT1)	XP_011540062.1:p.Arg558Gln
XM_011541761.1:c.647G>A (POMGNT1)	XP_011540063.1:p.Arg216Gln
XM_011540460.3:c.678+4592C>T (TSPAN1)	XP_011538762.1:n.678+4592C>T
XM_011541760.3:c.1673G>A (POMGNT1)	XP_011540062.1:p.Arg558Gln
XM_017001690.1:c.1739G>A (POMGNT1)	XP_016857179.1:p.Arg580Gln
NM_001243766.2:c.1739G>A (POMGNT1)	NP_001230695.2:p.Arg580Gln
NM_001290129.2:c.1673G>A (POMGNT1)	NP_001277058.2:p.Arg558Gln
NM_001290130.2:c.1310G>A (POMGNT1)	NP_001277059.2:p.Arg437Gln
NM_017739.4:c.1739G>A (POMGNT1) MANE Select	NP_060209.4:p.Arg580Gln