Canonical Allele Identifier: CA417717928

Gene: POMGNT1 TSPAN1

Linked Data

• MyVariant Identifiers: chr1:g.46656147G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46190475G>C , CM000663.2:g.46190475G>C	GRCh38
NC_000001.10:g.46656147G>C , CM000663.1:g.46656147G>C	GRCh37
NC_000001.9:g.46428734G>C	NCBI36
NG_009205.2:g.34831C>G
NG_009205.3:g.34831C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1647C>G (POMGNT1)	ENSP00000379698.4:p.Leu549=
ENST00000477114.2:n.2209C>G (POMGNT1)
ENST00000497439.6:n.1819C>G (POMGNT1)
ENST00000684817.1:n.2007C>G (POMGNT1)
ENST00000684898.1:n.2209C>G (POMGNT1)
ENST00000685230.1:c.*957C>G (POMGNT1)	ENSP00000510305.1:n.*957C>G
ENST00000685275.1:n.2194C>G (POMGNT1)
ENST00000685444.1:c.1548C>G (POMGNT1)	ENSP00000510762.1:p.Leu516=
ENST00000685704.1:n.2313C>G (POMGNT1)
ENST00000685775.1:n.4689C>G (POMGNT1)
ENST00000685833.1:n.4040C>G (POMGNT1)
ENST00000686252.1:n.2721C>G (POMGNT1)
ENST00000686379.1:c.*771C>G (POMGNT1)	ENSP00000508913.1:n.*771C>G
ENST00000686724.1:n.3334C>G (POMGNT1)
ENST00000686737.1:c.1647C>G (POMGNT1)	ENSP00000508736.1:p.Leu549=
ENST00000687112.1:n.2513C>G (POMGNT1)
ENST00000687149.1:c.1686C>G (POMGNT1)	ENSP00000509745.1:p.Leu562=
ENST00000687197.1:c.*587C>G (POMGNT1)	ENSP00000510749.1:n.*587C>G
ENST00000687235.1:n.3724C>G (POMGNT1)
ENST00000687613.1:n.2290-486C>G (POMGNT1)
ENST00000687683.1:c.1647C>G (POMGNT1)	ENSP00000508522.1:p.Leu549=
ENST00000688032.1:n.2184C>G (POMGNT1)
ENST00000688596.1:n.2298C>G (POMGNT1)
ENST00000688608.1:c.1548C>G (POMGNT1)	ENSP00000508890.1:p.Leu516=
ENST00000688919.1:n.3045C>G (POMGNT1)
ENST00000689031.1:n.2102-486C>G (POMGNT1)
ENST00000689717.1:n.2021C>G (POMGNT1)
ENST00000689756.1:c.*1279C>G (POMGNT1)	ENSP00000509023.1:n.*1279C>G
ENST00000690377.1:n.1994C>G (POMGNT1)
ENST00000690678.1:c.1647C>G (POMGNT1)	ENSP00000508703.1:p.Leu549=
ENST00000691209.1:c.*587C>G (POMGNT1)	ENSP00000510112.1:n.*587C>G
ENST00000691243.1:c.*38C>G (POMGNT1)	ENSP00000510654.1:n.*38C>G
ENST00000692169.1:n.3311C>G (POMGNT1)
ENST00000692202.1:n.2222C>G (POMGNT1)
ENST00000692322.1:c.*1434C>G (POMGNT1)	ENSP00000509017.1:n.*1434C>G
ENST00000692369.1:c.1647C>G (POMGNT1)	ENSP00000508453.1:p.Leu549=
ENST00000692599.1:n.3522C>G (POMGNT1)
ENST00000692635.1:c.*522C>G (POMGNT1)	ENSP00000508425.1:n.*522C>G
ENST00000693168.1:n.3423C>G (POMGNT1)
ENST00000693218.1:c.*208C>G (POMGNT1)	ENSP00000510577.1:n.*208C>G
ENST00000693223.1:n.2595C>G (POMGNT1)
ENST00000693365.1:n.5796C>G (POMGNT1)
ENST00000371984.8:c.1647C>G (POMGNT1) MANE Select	ENSP00000361052.3:p.Leu549=
ENST00000371984.7:c.1647C>G (POMGNT1)	ENSP00000361052.3:p.Leu549=
ENST00000371992.1:c.1647C>G (POMGNT1)	ENSP00000361060.1:p.Leu549=
ENST00000396420.7:c.*1316C>G (POMGNT1)	ENSP00000379698.3:n.*1316C>G
ENST00000480972.1:n.296C>G (POMGNT1)
ENST00000485714.1:n.2548C>G (POMGNT1)
NM_001243766.1:c.1647C>G (POMGNT1)	NP_001230695.1:p.Leu549=
NM_001290129.1:c.1581C>G (POMGNT1)	NP_001277058.1:p.Leu527=
NM_001290130.1:c.1218C>G (POMGNT1)	NP_001277059.1:p.Leu406=
NM_017739.3:c.1647C>G (POMGNT1)	NP_060209.3:p.Leu549=
XM_005271010.1:c.1647C>G (POMGNT1)	XP_005271067.1:p.Leu549=
XM_006710755.1:c.1647C>G (POMGNT1)	XP_006710818.1:p.Leu549=
XM_006710756.1:c.1647C>G (POMGNT1)	XP_006710819.1:p.Leu549=
XM_011540460.1:c.678+5167G>C (TSPAN1)	XP_011538762.1:n.678+5167G>C
XM_011540461.1:c.633+5167G>C (TSPAN1)	XP_011538763.1:n.633+5167G>C
XM_011541759.1:c.1581C>G (POMGNT1)	XP_011540061.1:p.Leu527=
XM_011541760.1:c.1581C>G (POMGNT1)	XP_011540062.1:p.Leu527=
XM_011541761.1:c.555C>G (POMGNT1)	XP_011540063.1:p.Leu185=
XM_011540460.3:c.678+5167G>C (TSPAN1)	XP_011538762.1:n.678+5167G>C
XM_011541760.3:c.1581C>G (POMGNT1)	XP_011540062.1:p.Leu527=
XM_017001690.1:c.1647C>G (POMGNT1)	XP_016857179.1:p.Leu549=
NM_001243766.2:c.1647C>G (POMGNT1)	NP_001230695.2:p.Leu549=
NM_001290129.2:c.1581C>G (POMGNT1)	NP_001277058.2:p.Leu527=
NM_001290130.2:c.1218C>G (POMGNT1)	NP_001277059.2:p.Leu406=
NM_017739.4:c.1647C>G (POMGNT1) MANE Select	NP_060209.4:p.Leu549=