Canonical Allele Identifier: CA21910651

Gene: POMGNT1 TSPAN1

Linked Data

• dbSNP Id: rs1049658707
• gnomAD v3: 1-46189919-T-C
• gnomAD v4: 1-46189919-T-C
• MyVariant Identifiers: chr1:g.46655591T>C (hg19) ; chr1:g.46189919T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46189919T>C , CM000663.2:g.46189919T>C	GRCh38
NC_000001.10:g.46655591T>C , CM000663.1:g.46655591T>C	GRCh37
NC_000001.9:g.46428178T>C	NCBI36
NG_009205.2:g.35387A>G
NG_009205.3:g.35387A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1720A>G (POMGNT1)	ENSP00000379698.4:p.Thr574Ala
ENST00000497439.6:n.1892A>G (POMGNT1)
ENST00000684817.1:n.2080A>G (POMGNT1)
ENST00000684898.1:n.2282A>G (POMGNT1)
ENST00000685230.1:c.*1030A>G (POMGNT1)	ENSP00000510305.1:n.*1030A>G
ENST00000685275.1:n.2267A>G (POMGNT1)
ENST00000685444.1:c.1621A>G (POMGNT1)	ENSP00000510762.1:p.Thr541Ala
ENST00000685704.1:n.2386A>G (POMGNT1)
ENST00000685833.1:n.4113A>G (POMGNT1)
ENST00000686252.1:n.2794A>G (POMGNT1)
ENST00000686379.1:c.*844A>G (POMGNT1)	ENSP00000508913.1:n.*844A>G
ENST00000686724.1:n.3407A>G (POMGNT1)
ENST00000686737.1:c.1720A>G (POMGNT1)	ENSP00000508736.1:p.Thr574Ala
ENST00000687112.1:n.2586A>G (POMGNT1)
ENST00000687149.1:c.1759A>G (POMGNT1)	ENSP00000509745.1:p.Thr587Ala
ENST00000687197.1:c.*660A>G (POMGNT1)	ENSP00000510749.1:n.*660A>G
ENST00000687235.1:n.3797A>G (POMGNT1)
ENST00000687613.1:n.2360A>G (POMGNT1)
ENST00000687683.1:c.1720A>G (POMGNT1)	ENSP00000508522.1:p.Thr574Ala
ENST00000688032.1:n.2257A>G (POMGNT1)
ENST00000688596.1:n.2371A>G (POMGNT1)
ENST00000688608.1:c.1621A>G (POMGNT1)	ENSP00000508890.1:p.Thr541Ala
ENST00000689031.1:n.2172A>G (POMGNT1)
ENST00000689756.1:c.*1352A>G (POMGNT1)	ENSP00000509023.1:n.*1352A>G
ENST00000690377.1:n.2067A>G (POMGNT1)
ENST00000690678.1:c.1720A>G (POMGNT1)	ENSP00000508703.1:p.Thr574Ala
ENST00000691209.1:c.*660A>G (POMGNT1)	ENSP00000510112.1:n.*660A>G
ENST00000691243.1:c.*111A>G (POMGNT1)	ENSP00000510654.1:n.*111A>G
ENST00000692202.1:n.2295A>G (POMGNT1)
ENST00000692322.1:c.*1507A>G (POMGNT1)	ENSP00000509017.1:n.*1507A>G
ENST00000692369.1:c.1720A>G (POMGNT1)	ENSP00000508453.1:p.Thr574Ala
ENST00000692599.1:n.3595A>G (POMGNT1)
ENST00000692635.1:c.*595A>G (POMGNT1)	ENSP00000508425.1:n.*595A>G
ENST00000693168.1:n.3496A>G (POMGNT1)
ENST00000693218.1:c.*281A>G (POMGNT1)	ENSP00000510577.1:n.*281A>G
ENST00000693223.1:n.2668A>G (POMGNT1)
ENST00000371984.8:c.1720A>G (POMGNT1) MANE Select	ENSP00000361052.3:p.Thr574Ala
ENST00000371984.7:c.1720A>G (POMGNT1)	ENSP00000361052.3:p.Thr574Ala
ENST00000371992.1:c.1720A>G (POMGNT1)	ENSP00000361060.1:p.Thr574Ala
ENST00000396420.7:c.*1389A>G (POMGNT1)	ENSP00000379698.3:n.*1389A>G
ENST00000480972.1:n.369A>G (POMGNT1)
NM_001243766.1:c.1720A>G (POMGNT1)	NP_001230695.1:p.Thr574Ala
NM_001290129.1:c.1654A>G (POMGNT1)	NP_001277058.1:p.Thr552Ala
NM_001290130.1:c.1291A>G (POMGNT1)	NP_001277059.1:p.Thr431Ala
NM_017739.3:c.1720A>G (POMGNT1)	NP_060209.3:p.Thr574Ala
XM_005271010.1:c.1720A>G (POMGNT1)	XP_005271067.1:p.Thr574Ala
XM_006710755.1:c.1720A>G (POMGNT1)	XP_006710818.1:p.Thr574Ala
XM_006710756.1:c.1720A>G (POMGNT1)	XP_006710819.1:p.Thr574Ala
XM_011540460.1:c.678+4611T>C (TSPAN1)	XP_011538762.1:n.678+4611T>C
XM_011540461.1:c.633+4611T>C (TSPAN1)	XP_011538763.1:n.633+4611T>C
XM_011541759.1:c.1654A>G (POMGNT1)	XP_011540061.1:p.Thr552Ala
XM_011541760.1:c.1654A>G (POMGNT1)	XP_011540062.1:p.Thr552Ala
XM_011541761.1:c.628A>G (POMGNT1)	XP_011540063.1:p.Thr210Ala
XM_011540460.3:c.678+4611T>C (TSPAN1)	XP_011538762.1:n.678+4611T>C
XM_011541760.3:c.1654A>G (POMGNT1)	XP_011540062.1:p.Thr552Ala
XM_017001690.1:c.1720A>G (POMGNT1)	XP_016857179.1:p.Thr574Ala
NM_001243766.2:c.1720A>G (POMGNT1)	NP_001230695.2:p.Thr574Ala
NM_001290129.2:c.1654A>G (POMGNT1)	NP_001277058.2:p.Thr552Ala
NM_001290130.2:c.1291A>G (POMGNT1)	NP_001277059.2:p.Thr431Ala
NM_017739.4:c.1720A>G (POMGNT1) MANE Select	NP_060209.4:p.Thr574Ala