Canonical Allele Identifier: CA340171549

Gene: POMGNT1 TSPAN1

Linked Data

• ClinVar Variation Id: 1209777
• ClinVar RCV Id: RCV001579097 ; RCV001579098 ; RCV001579099 ; RCV001579100
• dbSNP Id: rs2148167563
• MyVariant Identifiers: chr1:g.46655630G>A (hg19) ; chr1:g.46189958G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46189958G>A , CM000663.2:g.46189958G>A	GRCh38
NC_000001.10:g.46655630G>A , CM000663.1:g.46655630G>A	GRCh37
NC_000001.9:g.46428217G>A	NCBI36
NG_009205.2:g.35348C>T
NG_009205.3:g.35348C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1681C>T (POMGNT1)	ENSP00000379698.4:p.Pro561Ser
ENST00000497439.6:n.1853C>T (POMGNT1)
ENST00000684817.1:n.2041C>T (POMGNT1)
ENST00000684898.1:n.2243C>T (POMGNT1)
ENST00000685230.1:c.*991C>T (POMGNT1)	ENSP00000510305.1:n.*991C>T
ENST00000685275.1:n.2228C>T (POMGNT1)
ENST00000685444.1:c.1582C>T (POMGNT1)	ENSP00000510762.1:p.Pro528Ser
ENST00000685704.1:n.2347C>T (POMGNT1)
ENST00000685833.1:n.4074C>T (POMGNT1)
ENST00000686252.1:n.2755C>T (POMGNT1)
ENST00000686379.1:c.*805C>T (POMGNT1)	ENSP00000508913.1:n.*805C>T
ENST00000686724.1:n.3368C>T (POMGNT1)
ENST00000686737.1:c.1681C>T (POMGNT1)	ENSP00000508736.1:p.Pro561Ser
ENST00000687112.1:n.2547C>T (POMGNT1)
ENST00000687149.1:c.1720C>T (POMGNT1)	ENSP00000509745.1:p.Pro574Ser
ENST00000687197.1:c.*621C>T (POMGNT1)	ENSP00000510749.1:n.*621C>T
ENST00000687235.1:n.3758C>T (POMGNT1)
ENST00000687613.1:n.2321C>T (POMGNT1)
ENST00000687683.1:c.1681C>T (POMGNT1)	ENSP00000508522.1:p.Pro561Ser
ENST00000688032.1:n.2218C>T (POMGNT1)
ENST00000688596.1:n.2332C>T (POMGNT1)
ENST00000688608.1:c.1582C>T (POMGNT1)	ENSP00000508890.1:p.Pro528Ser
ENST00000689031.1:n.2133C>T (POMGNT1)
ENST00000689756.1:c.*1313C>T (POMGNT1)	ENSP00000509023.1:n.*1313C>T
ENST00000690377.1:n.2028C>T (POMGNT1)
ENST00000690678.1:c.1681C>T (POMGNT1)	ENSP00000508703.1:p.Pro561Ser
ENST00000691209.1:c.*621C>T (POMGNT1)	ENSP00000510112.1:n.*621C>T
ENST00000691243.1:c.*72C>T (POMGNT1)	ENSP00000510654.1:n.*72C>T
ENST00000692202.1:n.2256C>T (POMGNT1)
ENST00000692322.1:c.*1468C>T (POMGNT1)	ENSP00000509017.1:n.*1468C>T
ENST00000692369.1:c.1681C>T (POMGNT1)	ENSP00000508453.1:p.Pro561Ser
ENST00000692599.1:n.3556C>T (POMGNT1)
ENST00000692635.1:c.*556C>T (POMGNT1)	ENSP00000508425.1:n.*556C>T
ENST00000693168.1:n.3457C>T (POMGNT1)
ENST00000693218.1:c.*242C>T (POMGNT1)	ENSP00000510577.1:n.*242C>T
ENST00000693223.1:n.2629C>T (POMGNT1)
ENST00000371984.8:c.1681C>T (POMGNT1) MANE Select	ENSP00000361052.3:p.Pro561Ser
ENST00000371984.7:c.1681C>T (POMGNT1)	ENSP00000361052.3:p.Pro561Ser
ENST00000371992.1:c.1681C>T (POMGNT1)	ENSP00000361060.1:p.Pro561Ser
ENST00000396420.7:c.*1350C>T (POMGNT1)	ENSP00000379698.3:n.*1350C>T
ENST00000480972.1:n.330C>T (POMGNT1)
NM_001243766.1:c.1681C>T (POMGNT1)	NP_001230695.1:p.Pro561Ser
NM_001290129.1:c.1615C>T (POMGNT1)	NP_001277058.1:p.Pro539Ser
NM_001290130.1:c.1252C>T (POMGNT1)	NP_001277059.1:p.Pro418Ser
NM_017739.3:c.1681C>T (POMGNT1)	NP_060209.3:p.Pro561Ser
XM_005271010.1:c.1681C>T (POMGNT1)	XP_005271067.1:p.Pro561Ser
XM_006710755.1:c.1681C>T (POMGNT1)	XP_006710818.1:p.Pro561Ser
XM_006710756.1:c.1681C>T (POMGNT1)	XP_006710819.1:p.Pro561Ser
XM_011540460.1:c.678+4650G>A (TSPAN1)	XP_011538762.1:n.678+4650G>A
XM_011540461.1:c.633+4650G>A (TSPAN1)	XP_011538763.1:n.633+4650G>A
XM_011541759.1:c.1615C>T (POMGNT1)	XP_011540061.1:p.Pro539Ser
XM_011541760.1:c.1615C>T (POMGNT1)	XP_011540062.1:p.Pro539Ser
XM_011541761.1:c.589C>T (POMGNT1)	XP_011540063.1:p.Pro197Ser
XM_011540460.3:c.678+4650G>A (TSPAN1)	XP_011538762.1:n.678+4650G>A
XM_011541760.3:c.1615C>T (POMGNT1)	XP_011540062.1:p.Pro539Ser
XM_017001690.1:c.1681C>T (POMGNT1)	XP_016857179.1:p.Pro561Ser
NM_001243766.2:c.1681C>T (POMGNT1)	NP_001230695.2:p.Pro561Ser
NM_001290129.2:c.1615C>T (POMGNT1)	NP_001277058.2:p.Pro539Ser
NM_001290130.2:c.1252C>T (POMGNT1)	NP_001277059.2:p.Pro418Ser
NM_017739.4:c.1681C>T (POMGNT1) MANE Select	NP_060209.4:p.Pro561Ser