Canonical Allele Identifier: CA5293933

Gene: POMT1

Linked Data

• ClinVar Variation Id: 728447
• ClinVar RCV Id: RCV002065709
• dbSNP Id: rs200603905
• ExAC: 9:134398394 G / A
• gnomAD v2: 9-134398394-G-A
• gnomAD v3: 9-131523007-G-A
• gnomAD v4: 9-131523007-G-A
• MyVariant Identifiers: chr9:g.134398394G>A (hg19) ; chr9:g.131523007G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523007G>A , CM000671.2:g.131523007G>A	GRCh38
NC_000009.11:g.134398394G>A , CM000671.1:g.134398394G>A	GRCh37
NC_000009.10:g.133388215G>A	NCBI36
NG_008896.1:g.25106G>A
NG_008896.2:g.25106G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1917G>A	ENSP00000343034.7:p.Thr639=
ENST00000404875.7:n.2619G>A
ENST00000423007.6:c.2136G>A	ENSP00000404119.2:p.Thr712=
ENST00000677295.2:c.*2423G>A	ENSP00000504346.2:n.*2423G>A
ENST00000678264.2:c.*2262G>A	ENSP00000503157.2:n.*2262G>A
ENST00000682070.1:n.2389G>A
ENST00000682639.1:c.76G>A
ENST00000682813.1:n.2476G>A
ENST00000683231.1:c.76G>A
ENST00000683392.1:n.4671G>A
ENST00000683712.1:n.2484G>A
ENST00000683900.1:n.3979G>A
ENST00000684062.1:n.2745G>A
ENST00000684399.1:c.76G>A
ENST00000684579.1:n.3925G>A
ENST00000341012.12:c.1917G>A	ENSP00000343034.7:p.Thr639=
ENST00000372220.5:c.948G>A	ENSP00000361294.5:p.Thr316=
ENST00000372228.9:c.2145G>A	ENSP00000361302.3:p.Thr715=
ENST00000402686.8:c.2079G>A MANE Select	ENSP00000385797.4:p.Thr693=
ENST00000676640.1:c.2079G>A	ENSP00000503281.1:p.Thr693=
ENST00000676803.1:c.1140G>A	ENSP00000503093.1:p.Thr380=
ENST00000676835.1:c.*1294G>A	ENSP00000502911.1:n.*1294G>A
ENST00000677029.1:c.1623G>A	ENSP00000502936.1:p.Thr541=
ENST00000677099.1:c.*1789G>A	ENSP00000504553.1:n.*1789G>A
ENST00000677216.1:c.1728G>A	ENSP00000503772.1:p.Thr576=
ENST00000677221.1:n.1104G>A
ENST00000677295.1:c.*1301G>A	ENSP00000504346.1:n.*1301G>A
ENST00000677444.1:c.2024G>A
ENST00000677586.1:n.1446G>A
ENST00000677626.1:c.1728G>A	ENSP00000503552.1:p.Thr576=
ENST00000677853.1:c.*1087G>A	ENSP00000503488.1:n.*1087G>A
ENST00000678264.1:c.*1456G>A	ENSP00000503157.1:n.*1456G>A
ENST00000678303.1:c.1989G>A	ENSP00000503696.1:p.Thr663=
ENST00000678366.1:c.*2328G>A	ENSP00000504353.1:n.*2328G>A
ENST00000678546.1:c.*2024G>A	ENSP00000503062.1:n.*2024G>A
ENST00000678548.1:c.*2218G>A	ENSP00000503934.1:n.*2218G>A
ENST00000678626.1:n.1915G>A
ENST00000678739.1:c.*2245G>A	ENSP00000503806.1:n.*2245G>A
ENST00000678833.1:c.*1831G>A	ENSP00000503893.1:n.*1831G>A
ENST00000679023.1:c.1917G>A	ENSP00000503718.1:p.Thr639=
ENST00000679076.1:c.1698G>A
ENST00000679111.1:c.*835G>A	ENSP00000504257.1:n.*835G>A
ENST00000679189.1:c.1728G>A	ENSP00000503356.1:p.Thr576=
ENST00000341012.11:c.1917G>A	ENSP00000343034.7:p.Thr639=
ENST00000372220.4:c.942G>A	ENSP00000361294.4:p.Thr314=
ENST00000372228.7:c.2145G>A	ENSP00000361302.3:p.Thr715=
ENST00000402686.7:c.2079G>A	ENSP00000385797.3:p.Thr693=
ENST00000404875.6:c.1728G>A	ENSP00000384531.2:p.Thr576=
ENST00000423007.5:c.2079G>A	ENSP00000404119.1:p.Thr693=
ENST00000485278.5:n.2629G>A
NM_001077365.1:c.2079G>A	NP_001070833.1:p.Thr693=
NM_001077366.1:c.1917G>A	NP_001070834.1:p.Thr639=
NM_001136113.1:c.2079G>A	NP_001129585.1:p.Thr693=
NM_001136114.1:c.1728G>A	NP_001129586.1:p.Thr576=
NM_007171.3:c.2145G>A	NP_009102.3:p.Thr715=
XM_005272156.1:c.2145G>A	XP_005272213.1:p.Thr715=
XM_005272158.1:c.1983G>A	XP_005272215.1:p.Thr661=
XM_005272159.1:c.1794G>A	XP_005272216.1:p.Thr598=
XM_005272162.1:c.948G>A	XP_005272219.1:p.Thr316=
XM_006716932.1:c.1794G>A	XP_006716995.1:p.Thr598=
XM_011518140.1:c.1998G>A	XP_011516442.1:p.Thr666=
XM_011518141.1:c.1932G>A	XP_011516443.1:p.Thr644=
XM_011518142.1:c.1836G>A	XP_011516444.1:p.Thr612=
XM_011518143.1:c.1830G>A	XP_011516445.1:p.Thr610=
XM_011518145.1:c.1689G>A	XP_011516447.1:p.Thr563=
XM_011518147.1:c.1017G>A	XP_011516449.1:p.Thr339=
XR_929703.1:n.2321G>A
NM_001353193.1:c.2145G>A	NP_001340122.1:p.Thr715=
NM_001353194.1:c.1917G>A	NP_001340123.1:p.Thr639=
NM_001353195.1:c.1728G>A	NP_001340124.1:p.Thr576=
NM_001353196.1:c.1989G>A	NP_001340125.1:p.Thr663=
NM_001353197.1:c.1983G>A	NP_001340126.1:p.Thr661=
NM_001353198.1:c.1983G>A	NP_001340127.1:p.Thr661=
NM_001353199.1:c.1794G>A	NP_001340128.1:p.Thr598=
NM_001353200.1:c.1623G>A	NP_001340129.1:p.Thr541=
NR_148391.1:n.2129G>A
NR_148392.1:n.2347G>A
NR_148393.1:n.2268G>A
NR_148394.1:n.2022G>A
NR_148395.1:n.2420G>A
NR_148396.1:n.2054G>A
NR_148397.1:n.2179G>A
NR_148398.1:n.2134G>A
NR_148399.1:n.2660G>A
NR_148400.1:n.2259G>A
XM_005272162.3:c.948G>A	XP_005272219.1:p.Thr316=
XM_006716932.2:c.1794G>A	XP_006716995.1:p.Thr598=
XM_011518140.2:c.1998G>A	XP_011516442.1:p.Thr666=
XM_011518141.2:c.1932G>A	XP_011516443.1:p.Thr644=
XM_011518142.2:c.1836G>A	XP_011516444.1:p.Thr612=
XM_011518143.2:c.1830G>A	XP_011516445.1:p.Thr610=
XM_011518145.2:c.1689G>A	XP_011516447.1:p.Thr563=
XM_017014205.2:c.948G>A	XP_016869694.1:p.Thr316=
XM_024447380.1:c.948G>A	XP_024303148.1:p.Thr316=
XM_024447381.1:c.1254G>A	XP_024303149.1:p.Thr418=
XM_024447382.1:c.948G>A	XP_024303150.1:p.Thr316=
XR_001746160.2:n.2249G>A
XR_001746162.2:n.2454G>A
XR_001746164.1:n.2171G>A
XR_001746166.2:n.2466G>A
NM_001077365.2:c.2079G>A MANE Select	NP_001070833.1:p.Thr693=
NM_001077366.2:c.1917G>A	NP_001070834.1:p.Thr639=
NM_001136113.2:c.2079G>A	NP_001129585.1:p.Thr693=
NM_001136114.2:c.1728G>A	NP_001129586.1:p.Thr576=
NM_001353193.2:c.2145G>A	NP_001340122.2:p.Thr715=
NM_001353194.2:c.1917G>A	NP_001340123.1:p.Thr639=
NM_001353195.2:c.1728G>A	NP_001340124.1:p.Thr576=
NM_001353196.2:c.1989G>A	NP_001340125.1:p.Thr663=
NM_001353197.2:c.1983G>A	NP_001340126.2:p.Thr661=
NM_001353198.2:c.1983G>A	NP_001340127.2:p.Thr661=
NM_001353199.2:c.1794G>A	NP_001340128.2:p.Thr598=
NM_001353200.2:c.1623G>A	NP_001340129.1:p.Thr541=
NM_001374689.1:c.2067G>A	NP_001361618.1:p.Thr689=
NM_001374690.1:c.1860G>A	NP_001361619.1:p.Thr620=
NM_001374691.1:c.1728G>A	NP_001361620.1:p.Thr576=
NM_001374692.1:c.1728G>A	NP_001361621.1:p.Thr576=
NM_001374693.1:c.1728G>A	NP_001361622.1:p.Thr576=
NM_001374695.1:c.1689G>A	NP_001361624.1:p.Thr563=
NM_007171.4:c.2145G>A	NP_009102.4:p.Thr715=
NR_148391.2:n.2113G>A
NR_148392.2:n.2331G>A
NR_148393.2:n.2252G>A
NR_148394.2:n.2006G>A
NR_148395.2:n.2404G>A
NR_148396.2:n.2038G>A
NR_148397.2:n.2163G>A
NR_148398.2:n.2118G>A
NR_148399.2:n.2644G>A
NR_148400.2:n.2243G>A