Canonical Allele Identifier: CA21910674

Gene: POMGNT1 TSPAN1

Linked Data

• dbSNP Id: rs866019841
• MyVariant Identifiers: chr1:g.46655624C>A (hg19) ; chr1:g.46189952C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46189952C>A , CM000663.2:g.46189952C>A	GRCh38
NC_000001.10:g.46655624C>A , CM000663.1:g.46655624C>A	GRCh37
NC_000001.9:g.46428211C>A	NCBI36
NG_009205.2:g.35354G>T
NG_009205.3:g.35354G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1687G>T (POMGNT1)	ENSP00000379698.4:p.Glu563Ter
ENST00000497439.6:n.1859G>T (POMGNT1)
ENST00000684817.1:n.2047G>T (POMGNT1)
ENST00000684898.1:n.2249G>T (POMGNT1)
ENST00000685230.1:c.*997G>T (POMGNT1)	ENSP00000510305.1:n.*997G>T
ENST00000685275.1:n.2234G>T (POMGNT1)
ENST00000685444.1:c.1588G>T (POMGNT1)	ENSP00000510762.1:p.Glu530Ter
ENST00000685704.1:n.2353G>T (POMGNT1)
ENST00000685833.1:n.4080G>T (POMGNT1)
ENST00000686252.1:n.2761G>T (POMGNT1)
ENST00000686379.1:c.*811G>T (POMGNT1)	ENSP00000508913.1:n.*811G>T
ENST00000686724.1:n.3374G>T (POMGNT1)
ENST00000686737.1:c.1687G>T (POMGNT1)	ENSP00000508736.1:p.Glu563Ter
ENST00000687112.1:n.2553G>T (POMGNT1)
ENST00000687149.1:c.1726G>T (POMGNT1)	ENSP00000509745.1:p.Glu576Ter
ENST00000687197.1:c.*627G>T (POMGNT1)	ENSP00000510749.1:n.*627G>T
ENST00000687235.1:n.3764G>T (POMGNT1)
ENST00000687613.1:n.2327G>T (POMGNT1)
ENST00000687683.1:c.1687G>T (POMGNT1)	ENSP00000508522.1:p.Glu563Ter
ENST00000688032.1:n.2224G>T (POMGNT1)
ENST00000688596.1:n.2338G>T (POMGNT1)
ENST00000688608.1:c.1588G>T (POMGNT1)	ENSP00000508890.1:p.Glu530Ter
ENST00000689031.1:n.2139G>T (POMGNT1)
ENST00000689756.1:c.*1319G>T (POMGNT1)	ENSP00000509023.1:n.*1319G>T
ENST00000690377.1:n.2034G>T (POMGNT1)
ENST00000690678.1:c.1687G>T (POMGNT1)	ENSP00000508703.1:p.Glu563Ter
ENST00000691209.1:c.*627G>T (POMGNT1)	ENSP00000510112.1:n.*627G>T
ENST00000691243.1:c.*78G>T (POMGNT1)	ENSP00000510654.1:n.*78G>T
ENST00000692202.1:n.2262G>T (POMGNT1)
ENST00000692322.1:c.*1474G>T (POMGNT1)	ENSP00000509017.1:n.*1474G>T
ENST00000692369.1:c.1687G>T (POMGNT1)	ENSP00000508453.1:p.Glu563Ter
ENST00000692599.1:n.3562G>T (POMGNT1)
ENST00000692635.1:c.*562G>T (POMGNT1)	ENSP00000508425.1:n.*562G>T
ENST00000693168.1:n.3463G>T (POMGNT1)
ENST00000693218.1:c.*248G>T (POMGNT1)	ENSP00000510577.1:n.*248G>T
ENST00000693223.1:n.2635G>T (POMGNT1)
ENST00000371984.8:c.1687G>T (POMGNT1) MANE Select	ENSP00000361052.3:p.Glu563Ter
ENST00000371984.7:c.1687G>T (POMGNT1)	ENSP00000361052.3:p.Glu563Ter
ENST00000371992.1:c.1687G>T (POMGNT1)	ENSP00000361060.1:p.Glu563Ter
ENST00000396420.7:c.*1356G>T (POMGNT1)	ENSP00000379698.3:n.*1356G>T
ENST00000480972.1:n.336G>T (POMGNT1)
NM_001243766.1:c.1687G>T (POMGNT1)	NP_001230695.1:p.Glu563Ter
NM_001290129.1:c.1621G>T (POMGNT1)	NP_001277058.1:p.Glu541Ter
NM_001290130.1:c.1258G>T (POMGNT1)	NP_001277059.1:p.Glu420Ter
NM_017739.3:c.1687G>T (POMGNT1)	NP_060209.3:p.Glu563Ter
XM_005271010.1:c.1687G>T (POMGNT1)	XP_005271067.1:p.Glu563Ter
XM_006710755.1:c.1687G>T (POMGNT1)	XP_006710818.1:p.Glu563Ter
XM_006710756.1:c.1687G>T (POMGNT1)	XP_006710819.1:p.Glu563Ter
XM_011540460.1:c.678+4644C>A (TSPAN1)	XP_011538762.1:n.678+4644C>A
XM_011540461.1:c.633+4644C>A (TSPAN1)	XP_011538763.1:n.633+4644C>A
XM_011541759.1:c.1621G>T (POMGNT1)	XP_011540061.1:p.Glu541Ter
XM_011541760.1:c.1621G>T (POMGNT1)	XP_011540062.1:p.Glu541Ter
XM_011541761.1:c.595G>T (POMGNT1)	XP_011540063.1:p.Glu199Ter
XM_011540460.3:c.678+4644C>A (TSPAN1)	XP_011538762.1:n.678+4644C>A
XM_011541760.3:c.1621G>T (POMGNT1)	XP_011540062.1:p.Glu541Ter
XM_017001690.1:c.1687G>T (POMGNT1)	XP_016857179.1:p.Glu563Ter
NM_001243766.2:c.1687G>T (POMGNT1)	NP_001230695.2:p.Glu563Ter
NM_001290129.2:c.1621G>T (POMGNT1)	NP_001277058.2:p.Glu541Ter
NM_001290130.2:c.1258G>T (POMGNT1)	NP_001277059.2:p.Glu420Ter
NM_017739.4:c.1687G>T (POMGNT1) MANE Select	NP_060209.4:p.Glu563Ter