Canonical Allele Identifier: CA340171506

Gene: POMGNT1 TSPAN1

Linked Data

• MyVariant Identifiers: chr1:g.46655619G>T (hg19) ; chr1:g.46189947G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46189947G>T , CM000663.2:g.46189947G>T	GRCh38
NC_000001.10:g.46655619G>T , CM000663.1:g.46655619G>T	GRCh37
NC_000001.9:g.46428206G>T	NCBI36
NG_009205.2:g.35359C>A
NG_009205.3:g.35359C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1692C>A (POMGNT1)	ENSP00000379698.4:p.Asp564Glu
ENST00000497439.6:n.1864C>A (POMGNT1)
ENST00000684817.1:n.2052C>A (POMGNT1)
ENST00000684898.1:n.2254C>A (POMGNT1)
ENST00000685230.1:c.*1002C>A (POMGNT1)	ENSP00000510305.1:n.*1002C>A
ENST00000685275.1:n.2239C>A (POMGNT1)
ENST00000685444.1:c.1593C>A (POMGNT1)	ENSP00000510762.1:p.Asp531Glu
ENST00000685704.1:n.2358C>A (POMGNT1)
ENST00000685833.1:n.4085C>A (POMGNT1)
ENST00000686252.1:n.2766C>A (POMGNT1)
ENST00000686379.1:c.*816C>A (POMGNT1)	ENSP00000508913.1:n.*816C>A
ENST00000686724.1:n.3379C>A (POMGNT1)
ENST00000686737.1:c.1692C>A (POMGNT1)	ENSP00000508736.1:p.Asp564Glu
ENST00000687112.1:n.2558C>A (POMGNT1)
ENST00000687149.1:c.1731C>A (POMGNT1)	ENSP00000509745.1:p.Asp577Glu
ENST00000687197.1:c.*632C>A (POMGNT1)	ENSP00000510749.1:n.*632C>A
ENST00000687235.1:n.3769C>A (POMGNT1)
ENST00000687613.1:n.2332C>A (POMGNT1)
ENST00000687683.1:c.1692C>A (POMGNT1)	ENSP00000508522.1:p.Asp564Glu
ENST00000688032.1:n.2229C>A (POMGNT1)
ENST00000688596.1:n.2343C>A (POMGNT1)
ENST00000688608.1:c.1593C>A (POMGNT1)	ENSP00000508890.1:p.Asp531Glu
ENST00000689031.1:n.2144C>A (POMGNT1)
ENST00000689756.1:c.*1324C>A (POMGNT1)	ENSP00000509023.1:n.*1324C>A
ENST00000690377.1:n.2039C>A (POMGNT1)
ENST00000690678.1:c.1692C>A (POMGNT1)	ENSP00000508703.1:p.Asp564Glu
ENST00000691209.1:c.*632C>A (POMGNT1)	ENSP00000510112.1:n.*632C>A
ENST00000691243.1:c.*83C>A (POMGNT1)	ENSP00000510654.1:n.*83C>A
ENST00000692202.1:n.2267C>A (POMGNT1)
ENST00000692322.1:c.*1479C>A (POMGNT1)	ENSP00000509017.1:n.*1479C>A
ENST00000692369.1:c.1692C>A (POMGNT1)	ENSP00000508453.1:p.Asp564Glu
ENST00000692599.1:n.3567C>A (POMGNT1)
ENST00000692635.1:c.*567C>A (POMGNT1)	ENSP00000508425.1:n.*567C>A
ENST00000693168.1:n.3468C>A (POMGNT1)
ENST00000693218.1:c.*253C>A (POMGNT1)	ENSP00000510577.1:n.*253C>A
ENST00000693223.1:n.2640C>A (POMGNT1)
ENST00000371984.8:c.1692C>A (POMGNT1) MANE Select	ENSP00000361052.3:p.Asp564Glu
ENST00000371984.7:c.1692C>A (POMGNT1)	ENSP00000361052.3:p.Asp564Glu
ENST00000371992.1:c.1692C>A (POMGNT1)	ENSP00000361060.1:p.Asp564Glu
ENST00000396420.7:c.*1361C>A (POMGNT1)	ENSP00000379698.3:n.*1361C>A
ENST00000480972.1:n.341C>A (POMGNT1)
NM_001243766.1:c.1692C>A (POMGNT1)	NP_001230695.1:p.Asp564Glu
NM_001290129.1:c.1626C>A (POMGNT1)	NP_001277058.1:p.Asp542Glu
NM_001290130.1:c.1263C>A (POMGNT1)	NP_001277059.1:p.Asp421Glu
NM_017739.3:c.1692C>A (POMGNT1)	NP_060209.3:p.Asp564Glu
XM_005271010.1:c.1692C>A (POMGNT1)	XP_005271067.1:p.Asp564Glu
XM_006710755.1:c.1692C>A (POMGNT1)	XP_006710818.1:p.Asp564Glu
XM_006710756.1:c.1692C>A (POMGNT1)	XP_006710819.1:p.Asp564Glu
XM_011540460.1:c.678+4639G>T (TSPAN1)	XP_011538762.1:n.678+4639G>T
XM_011540461.1:c.633+4639G>T (TSPAN1)	XP_011538763.1:n.633+4639G>T
XM_011541759.1:c.1626C>A (POMGNT1)	XP_011540061.1:p.Asp542Glu
XM_011541760.1:c.1626C>A (POMGNT1)	XP_011540062.1:p.Asp542Glu
XM_011541761.1:c.600C>A (POMGNT1)	XP_011540063.1:p.Asp200Glu
XM_011540460.3:c.678+4639G>T (TSPAN1)	XP_011538762.1:n.678+4639G>T
XM_011541760.3:c.1626C>A (POMGNT1)	XP_011540062.1:p.Asp542Glu
XM_017001690.1:c.1692C>A (POMGNT1)	XP_016857179.1:p.Asp564Glu
NM_001243766.2:c.1692C>A (POMGNT1)	NP_001230695.2:p.Asp564Glu
NM_001290129.2:c.1626C>A (POMGNT1)	NP_001277058.2:p.Asp542Glu
NM_001290130.2:c.1263C>A (POMGNT1)	NP_001277059.2:p.Asp421Glu
NM_017739.4:c.1692C>A (POMGNT1) MANE Select	NP_060209.4:p.Asp564Glu