Canonical Allele Identifier: CA340171503

Gene: POMGNT1 TSPAN1

Linked Data

• ClinVar Variation Id: 1036843
• ClinVar RCV Id: RCV001339904
• dbSNP Id: rs753688195
• MyVariant Identifiers: chr1:g.46655618A>G (hg19) ; chr1:g.46189946A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46189946A>G , CM000663.2:g.46189946A>G	GRCh38
NC_000001.10:g.46655618A>G , CM000663.1:g.46655618A>G	GRCh37
NC_000001.9:g.46428205A>G	NCBI36
NG_009205.2:g.35360T>C
NG_009205.3:g.35360T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1693T>C (POMGNT1)	ENSP00000379698.4:p.Ser565Pro
ENST00000497439.6:n.1865T>C (POMGNT1)
ENST00000684817.1:n.2053T>C (POMGNT1)
ENST00000684898.1:n.2255T>C (POMGNT1)
ENST00000685230.1:c.*1003T>C (POMGNT1)	ENSP00000510305.1:n.*1003T>C
ENST00000685275.1:n.2240T>C (POMGNT1)
ENST00000685444.1:c.1594T>C (POMGNT1)	ENSP00000510762.1:p.Ser532Pro
ENST00000685704.1:n.2359T>C (POMGNT1)
ENST00000685833.1:n.4086T>C (POMGNT1)
ENST00000686252.1:n.2767T>C (POMGNT1)
ENST00000686379.1:c.*817T>C (POMGNT1)	ENSP00000508913.1:n.*817T>C
ENST00000686724.1:n.3380T>C (POMGNT1)
ENST00000686737.1:c.1693T>C (POMGNT1)	ENSP00000508736.1:p.Ser565Pro
ENST00000687112.1:n.2559T>C (POMGNT1)
ENST00000687149.1:c.1732T>C (POMGNT1)	ENSP00000509745.1:p.Ser578Pro
ENST00000687197.1:c.*633T>C (POMGNT1)	ENSP00000510749.1:n.*633T>C
ENST00000687235.1:n.3770T>C (POMGNT1)
ENST00000687613.1:n.2333T>C (POMGNT1)
ENST00000687683.1:c.1693T>C (POMGNT1)	ENSP00000508522.1:p.Ser565Pro
ENST00000688032.1:n.2230T>C (POMGNT1)
ENST00000688596.1:n.2344T>C (POMGNT1)
ENST00000688608.1:c.1594T>C (POMGNT1)	ENSP00000508890.1:p.Ser532Pro
ENST00000689031.1:n.2145T>C (POMGNT1)
ENST00000689756.1:c.*1325T>C (POMGNT1)	ENSP00000509023.1:n.*1325T>C
ENST00000690377.1:n.2040T>C (POMGNT1)
ENST00000690678.1:c.1693T>C (POMGNT1)	ENSP00000508703.1:p.Ser565Pro
ENST00000691209.1:c.*633T>C (POMGNT1)	ENSP00000510112.1:n.*633T>C
ENST00000691243.1:c.*84T>C (POMGNT1)	ENSP00000510654.1:n.*84T>C
ENST00000692202.1:n.2268T>C (POMGNT1)
ENST00000692322.1:c.*1480T>C (POMGNT1)	ENSP00000509017.1:n.*1480T>C
ENST00000692369.1:c.1693T>C (POMGNT1)	ENSP00000508453.1:p.Ser565Pro
ENST00000692599.1:n.3568T>C (POMGNT1)
ENST00000692635.1:c.*568T>C (POMGNT1)	ENSP00000508425.1:n.*568T>C
ENST00000693168.1:n.3469T>C (POMGNT1)
ENST00000693218.1:c.*254T>C (POMGNT1)	ENSP00000510577.1:n.*254T>C
ENST00000693223.1:n.2641T>C (POMGNT1)
ENST00000371984.8:c.1693T>C (POMGNT1) MANE Select	ENSP00000361052.3:p.Ser565Pro
ENST00000371984.7:c.1693T>C (POMGNT1)	ENSP00000361052.3:p.Ser565Pro
ENST00000371992.1:c.1693T>C (POMGNT1)	ENSP00000361060.1:p.Ser565Pro
ENST00000396420.7:c.*1362T>C (POMGNT1)	ENSP00000379698.3:n.*1362T>C
ENST00000480972.1:n.342T>C (POMGNT1)
NM_001243766.1:c.1693T>C (POMGNT1)	NP_001230695.1:p.Ser565Pro
NM_001290129.1:c.1627T>C (POMGNT1)	NP_001277058.1:p.Ser543Pro
NM_001290130.1:c.1264T>C (POMGNT1)	NP_001277059.1:p.Ser422Pro
NM_017739.3:c.1693T>C (POMGNT1)	NP_060209.3:p.Ser565Pro
XM_005271010.1:c.1693T>C (POMGNT1)	XP_005271067.1:p.Ser565Pro
XM_006710755.1:c.1693T>C (POMGNT1)	XP_006710818.1:p.Ser565Pro
XM_006710756.1:c.1693T>C (POMGNT1)	XP_006710819.1:p.Ser565Pro
XM_011540460.1:c.678+4638A>G (TSPAN1)	XP_011538762.1:n.678+4638A>G
XM_011540461.1:c.633+4638A>G (TSPAN1)	XP_011538763.1:n.633+4638A>G
XM_011541759.1:c.1627T>C (POMGNT1)	XP_011540061.1:p.Ser543Pro
XM_011541760.1:c.1627T>C (POMGNT1)	XP_011540062.1:p.Ser543Pro
XM_011541761.1:c.601T>C (POMGNT1)	XP_011540063.1:p.Ser201Pro
XM_011540460.3:c.678+4638A>G (TSPAN1)	XP_011538762.1:n.678+4638A>G
XM_011541760.3:c.1627T>C (POMGNT1)	XP_011540062.1:p.Ser543Pro
XM_017001690.1:c.1693T>C (POMGNT1)	XP_016857179.1:p.Ser565Pro
NM_001243766.2:c.1693T>C (POMGNT1)	NP_001230695.2:p.Ser565Pro
NM_001290129.2:c.1627T>C (POMGNT1)	NP_001277058.2:p.Ser543Pro
NM_001290130.2:c.1264T>C (POMGNT1)	NP_001277059.2:p.Ser422Pro
NM_017739.4:c.1693T>C (POMGNT1) MANE Select	NP_060209.4:p.Ser565Pro