Canonical Allele Identifier: CA340171728

Gene: POMGNT1 TSPAN1

Linked Data

• ClinVar Variation Id: 553347
• ClinVar RCV Id: RCV000668770 ; RCV003459601 ; RCV003767967
• dbSNP Id: rs1268759044
• gnomAD v2: 1-46656143-A-C
• MyVariant Identifiers: chr1:g.46656143A>C (hg19) ; chr1:g.46190471A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46190471A>C , CM000663.2:g.46190471A>C	GRCh38
NC_000001.10:g.46656143A>C , CM000663.1:g.46656143A>C	GRCh37
NC_000001.9:g.46428730A>C	NCBI36
NG_009205.2:g.34835T>G
NG_009205.3:g.34835T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1649+2T>G (POMGNT1)	ENSP00000379698.4:n.1649+2T>G
ENST00000477114.2:n.2213T>G (POMGNT1)
ENST00000497439.6:n.1821+2T>G (POMGNT1)
ENST00000684817.1:n.2009+2T>G (POMGNT1)
ENST00000684898.1:n.2211+2T>G (POMGNT1)
ENST00000685230.1:c.*959+2T>G (POMGNT1)	ENSP00000510305.1:n.*959+2T>G
ENST00000685275.1:n.2196+2T>G (POMGNT1)
ENST00000685444.1:c.1550+2T>G (POMGNT1)	ENSP00000510762.1:n.1550+2T>G
ENST00000685704.1:n.2315+2T>G (POMGNT1)
ENST00000685775.1:n.4693T>G (POMGNT1)
ENST00000685833.1:n.4042+2T>G (POMGNT1)
ENST00000686252.1:n.2723+2T>G (POMGNT1)
ENST00000686379.1:c.*773+2T>G (POMGNT1)	ENSP00000508913.1:n.*773+2T>G
ENST00000686724.1:n.3336+2T>G (POMGNT1)
ENST00000686737.1:c.1649+2T>G (POMGNT1)	ENSP00000508736.1:n.1649+2T>G
ENST00000687112.1:n.2515+2T>G (POMGNT1)
ENST00000687149.1:c.1688+2T>G (POMGNT1)	ENSP00000509745.1:n.1688+2T>G
ENST00000687197.1:c.*589+2T>G (POMGNT1)	ENSP00000510749.1:n.*589+2T>G
ENST00000687235.1:n.3726+2T>G (POMGNT1)
ENST00000687613.1:n.2290-482T>G (POMGNT1)
ENST00000687683.1:c.1649+2T>G (POMGNT1)	ENSP00000508522.1:n.1649+2T>G
ENST00000688032.1:n.2186+2T>G (POMGNT1)
ENST00000688596.1:n.2300+2T>G (POMGNT1)
ENST00000688608.1:c.1550+2T>G (POMGNT1)	ENSP00000508890.1:n.1550+2T>G
ENST00000688919.1:n.3049T>G (POMGNT1)
ENST00000689031.1:n.2102-482T>G (POMGNT1)
ENST00000689717.1:n.2025T>G (POMGNT1)
ENST00000689756.1:c.*1281+2T>G (POMGNT1)	ENSP00000509023.1:n.*1281+2T>G
ENST00000690377.1:n.1996+2T>G (POMGNT1)
ENST00000690678.1:c.1649+2T>G (POMGNT1)	ENSP00000508703.1:n.1649+2T>G
ENST00000691209.1:c.*589+2T>G (POMGNT1)	ENSP00000510112.1:n.*589+2T>G
ENST00000691243.1:c.*40+2T>G (POMGNT1)	ENSP00000510654.1:n.*40+2T>G
ENST00000692169.1:n.3315T>G (POMGNT1)
ENST00000692202.1:n.2224+2T>G (POMGNT1)
ENST00000692322.1:c.*1436+2T>G (POMGNT1)	ENSP00000509017.1:n.*1436+2T>G
ENST00000692369.1:c.1649+2T>G (POMGNT1)	ENSP00000508453.1:n.1649+2T>G
ENST00000692599.1:n.3524+2T>G (POMGNT1)
ENST00000692635.1:c.*524+2T>G (POMGNT1)	ENSP00000508425.1:n.*524+2T>G
ENST00000693168.1:n.3425+2T>G (POMGNT1)
ENST00000693218.1:c.*210+2T>G (POMGNT1)	ENSP00000510577.1:n.*210+2T>G
ENST00000693223.1:n.2597+2T>G (POMGNT1)
ENST00000693365.1:n.5800T>G (POMGNT1)
ENST00000371984.8:c.1649+2T>G (POMGNT1) MANE Select	ENSP00000361052.3:n.1649+2T>G
ENST00000371984.7:c.1649+2T>G (POMGNT1)	ENSP00000361052.3:n.1649+2T>G
ENST00000371992.1:c.1649+2T>G (POMGNT1)	ENSP00000361060.1:n.1649+2T>G
ENST00000396420.7:c.*1318+2T>G (POMGNT1)	ENSP00000379698.3:n.*1318+2T>G
ENST00000480972.1:n.298+2T>G (POMGNT1)
ENST00000485714.1:n.2552T>G (POMGNT1)
NM_001243766.1:c.1649+2T>G (POMGNT1)	NP_001230695.1:n.1649+2T>G
NM_001290129.1:c.1583+2T>G (POMGNT1)	NP_001277058.1:n.1583+2T>G
NM_001290130.1:c.1220+2T>G (POMGNT1)	NP_001277059.1:n.1220+2T>G
NM_017739.3:c.1649+2T>G (POMGNT1)	NP_060209.3:n.1649+2T>G
XM_005271010.1:c.1649+2T>G (POMGNT1)	XP_005271067.1:n.1649+2T>G
XM_006710755.1:c.1649+2T>G (POMGNT1)	XP_006710818.1:n.1649+2T>G
XM_006710756.1:c.1649+2T>G (POMGNT1)	XP_006710819.1:n.1649+2T>G
XM_011540460.1:c.678+5163A>C (TSPAN1)	XP_011538762.1:n.678+5163A>C
XM_011540461.1:c.633+5163A>C (TSPAN1)	XP_011538763.1:n.633+5163A>C
XM_011541759.1:c.1583+2T>G (POMGNT1)	XP_011540061.1:n.1583+2T>G
XM_011541760.1:c.1583+2T>G (POMGNT1)	XP_011540062.1:n.1583+2T>G
XM_011541761.1:c.557+2T>G (POMGNT1)	XP_011540063.1:n.557+2T>G
XM_011540460.3:c.678+5163A>C (TSPAN1)	XP_011538762.1:n.678+5163A>C
XM_011541760.3:c.1583+2T>G (POMGNT1)	XP_011540062.1:n.1583+2T>G
XM_017001690.1:c.1649+2T>G (POMGNT1)	XP_016857179.1:n.1649+2T>G
NM_001243766.2:c.1649+2T>G (POMGNT1)	NP_001230695.2:n.1649+2T>G
NM_001290129.2:c.1583+2T>G (POMGNT1)	NP_001277058.2:n.1583+2T>G
NM_001290130.2:c.1220+2T>G (POMGNT1)	NP_001277059.2:n.1220+2T>G
NM_017739.4:c.1649+2T>G (POMGNT1) MANE Select	NP_060209.4:n.1649+2T>G