Canonical Allele Identifier: CA263958

Gene: POMGNT1 TSPAN1

Linked Data

• ClinVar Variation Id: 56589
• ClinVar RCV Id: RCV000050002 ; RCV001269853 ; RCV001853064 ; RCV002513696 ; RCV003460642
• dbSNP Id: rs267606962
• ExAC: 1:46655211 C / T
• gnomAD v2: 1-46655211-C-T
• gnomAD v4: 1-46189539-C-T
• COSMIC: COSM3689738 ; COSM3689739 ; COSM5171022
• MyVariant Identifiers: chr1:g.46655211C>T (hg19) ; chr1:g.46189539C>T (hg38)
• PubMed: PMID:12849864 ; PMID:17154333 ; PMID:17906881 ; PMID:20215985 ; PMID:21361872 ; PMID:24731844

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46189539C>T , CM000663.2:g.46189539C>T	GRCh38
NC_000001.10:g.46655211C>T , CM000663.1:g.46655211C>T	GRCh37
NC_000001.9:g.46427798C>T	NCBI36
NG_009205.2:g.35767G>A
NG_009205.3:g.35767G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000396420.8:c.1814G>A (POMGNT1)	ENSP00000379698.4:p.Arg605His
ENST00000497439.6:n.1986G>A (POMGNT1)
ENST00000684817.1:n.2174G>A (POMGNT1)
ENST00000684898.1:n.2376G>A (POMGNT1)
ENST00000685230.1:c.*1124G>A (POMGNT1)	ENSP00000510305.1:n.*1124G>A
ENST00000685275.1:n.2361G>A (POMGNT1)
ENST00000685444.1:c.1715G>A (POMGNT1)	ENSP00000510762.1:p.Arg572His
ENST00000685704.1:n.2480G>A (POMGNT1)
ENST00000685833.1:n.4207G>A (POMGNT1)
ENST00000686252.1:n.2888G>A (POMGNT1)
ENST00000686379.1:c.*938G>A (POMGNT1)	ENSP00000508913.1:n.*938G>A
ENST00000686724.1:n.3501G>A (POMGNT1)
ENST00000686737.1:c.1814G>A (POMGNT1)	ENSP00000508736.1:p.Arg605His
ENST00000687112.1:n.2680G>A (POMGNT1)
ENST00000687149.1:c.1853G>A (POMGNT1)	ENSP00000509745.1:p.Arg618His
ENST00000687197.1:c.*754G>A (POMGNT1)	ENSP00000510749.1:n.*754G>A
ENST00000687235.1:n.3891G>A (POMGNT1)
ENST00000687613.1:n.2454G>A (POMGNT1)
ENST00000687683.1:c.1814G>A (POMGNT1)	ENSP00000508522.1:p.Arg605His
ENST00000688032.1:n.2351G>A (POMGNT1)
ENST00000688596.1:n.2465G>A (POMGNT1)
ENST00000688608.1:c.1715G>A (POMGNT1)	ENSP00000508890.1:p.Arg572His
ENST00000689031.1:n.2266G>A (POMGNT1)
ENST00000689756.1:c.*1446G>A (POMGNT1)	ENSP00000509023.1:n.*1446G>A
ENST00000690377.1:n.2161G>A (POMGNT1)
ENST00000690678.1:c.1814G>A (POMGNT1)	ENSP00000508703.1:p.Arg605His
ENST00000691185.1:n.285G>A (POMGNT1)
ENST00000691209.1:c.*754G>A (POMGNT1)	ENSP00000510112.1:n.*754G>A
ENST00000691243.1:c.*205G>A (POMGNT1)	ENSP00000510654.1:n.*205G>A
ENST00000692202.1:n.2389G>A (POMGNT1)
ENST00000692322.1:c.*1601G>A (POMGNT1)	ENSP00000509017.1:n.*1601G>A
ENST00000692369.1:c.1814G>A (POMGNT1)	ENSP00000508453.1:p.Arg605His
ENST00000692599.1:n.3689G>A (POMGNT1)
ENST00000692635.1:c.*689G>A (POMGNT1)	ENSP00000508425.1:n.*689G>A
ENST00000693168.1:n.3590G>A (POMGNT1)
ENST00000693218.1:c.*375G>A (POMGNT1)	ENSP00000510577.1:n.*375G>A
ENST00000693223.1:n.2762G>A (POMGNT1)
ENST00000371984.8:c.1814G>A (POMGNT1) MANE Select	ENSP00000361052.3:p.Arg605His
ENST00000371984.7:c.1814G>A (POMGNT1)	ENSP00000361052.3:p.Arg605His
ENST00000371992.1:c.1814G>A (POMGNT1)	ENSP00000361060.1:p.Arg605His
ENST00000396420.7:c.*1483G>A (POMGNT1)	ENSP00000379698.3:n.*1483G>A
ENST00000475642.1:n.29G>A (POMGNT1)
ENST00000480972.1:n.463G>A (POMGNT1)
NM_001243766.1:c.1814G>A (POMGNT1)	NP_001230695.1:p.Arg605His
NM_001290129.1:c.1748G>A (POMGNT1)	NP_001277058.1:p.Arg583His
NM_001290130.1:c.1385G>A (POMGNT1)	NP_001277059.1:p.Arg462His
NM_017739.3:c.1814G>A (POMGNT1)	NP_060209.3:p.Arg605His
XM_005271010.1:c.1814G>A (POMGNT1)	XP_005271067.1:p.Arg605His
XM_006710755.1:c.1814G>A (POMGNT1)	XP_006710818.1:p.Arg605His
XM_006710756.1:c.1814G>A (POMGNT1)	XP_006710819.1:p.Arg605His
XM_011540460.1:c.678+4231C>T (TSPAN1)	XP_011538762.1:n.678+4231C>T
XM_011540461.1:c.633+4231C>T (TSPAN1)	XP_011538763.1:n.633+4231C>T
XM_011541759.1:c.1748G>A (POMGNT1)	XP_011540061.1:p.Arg583His
XM_011541760.1:c.1748G>A (POMGNT1)	XP_011540062.1:p.Arg583His
XM_011541761.1:c.722G>A (POMGNT1)	XP_011540063.1:p.Arg241His
XM_011540460.3:c.678+4231C>T (TSPAN1)	XP_011538762.1:n.678+4231C>T
XM_011541760.3:c.1748G>A (POMGNT1)	XP_011540062.1:p.Arg583His
XM_017001690.1:c.1814G>A (POMGNT1)	XP_016857179.1:p.Arg605His
NM_001243766.2:c.1814G>A (POMGNT1)	NP_001230695.2:p.Arg605His
NM_001290129.2:c.1748G>A (POMGNT1)	NP_001277058.2:p.Arg583His
NM_001290130.2:c.1385G>A (POMGNT1)	NP_001277059.2:p.Arg462His
NM_017739.4:c.1814G>A (POMGNT1) MANE Select	NP_060209.4:p.Arg605His