Canonical Allele Identifier: CA467424136

Gene: POMT1

Linked Data

• dbSNP Id: rs1248574725
• gnomAD v2: 9-134398319-G-A
• gnomAD v4: 9-131522932-G-A
• MyVariant Identifiers: chr9:g.134398319G>A (hg19) ; chr9:g.131522932G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522932G>A , CM000671.2:g.131522932G>A	GRCh38
NC_000009.11:g.134398319G>A , CM000671.1:g.134398319G>A	GRCh37
NC_000009.10:g.133388140G>A	NCBI36
NG_008896.1:g.25031G>A
NG_008896.2:g.25031G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1842G>A	ENSP00000343034.7:p.Arg614=
ENST00000404875.7:n.2544G>A
ENST00000423007.6:c.2061G>A	ENSP00000404119.2:p.Arg687=
ENST00000677295.2:c.*2348G>A	ENSP00000504346.2:n.*2348G>A
ENST00000678264.2:c.*2187G>A	ENSP00000503157.2:n.*2187G>A
ENST00000682070.1:n.2314G>A
ENST00000682639.1:c.1G>A
ENST00000682813.1:n.2408-7G>A
ENST00000683231.1:c.1G>A
ENST00000683392.1:n.4596G>A
ENST00000683712.1:n.2409G>A
ENST00000683900.1:n.3904G>A
ENST00000684062.1:n.2670G>A
ENST00000684399.1:c.1G>A
ENST00000684579.1:n.3850G>A
ENST00000341012.12:c.1842G>A	ENSP00000343034.7:p.Arg614=
ENST00000372220.5:c.873G>A	ENSP00000361294.5:p.Arg291=
ENST00000372228.9:c.2070G>A	ENSP00000361302.3:p.Arg690=
ENST00000402686.8:c.2004G>A MANE Select	ENSP00000385797.4:p.Arg668=
ENST00000676640.1:c.2004G>A	ENSP00000503281.1:p.Arg668=
ENST00000676803.1:c.1065G>A	ENSP00000503093.1:p.Arg355=
ENST00000676835.1:c.*1219G>A	ENSP00000502911.1:n.*1219G>A
ENST00000677029.1:c.1548G>A	ENSP00000502936.1:p.Arg516=
ENST00000677099.1:c.*1714G>A	ENSP00000504553.1:n.*1714G>A
ENST00000677216.1:c.1653G>A	ENSP00000503772.1:p.Arg551=
ENST00000677221.1:n.1029G>A
ENST00000677295.1:c.*1226G>A	ENSP00000504346.1:n.*1226G>A
ENST00000677444.1:c.1949G>A
ENST00000677586.1:n.1371G>A
ENST00000677626.1:c.1653G>A	ENSP00000503552.1:p.Arg551=
ENST00000677853.1:c.*1012G>A	ENSP00000503488.1:n.*1012G>A
ENST00000678264.1:c.*1381G>A	ENSP00000503157.1:n.*1381G>A
ENST00000678303.1:c.1914G>A	ENSP00000503696.1:p.Arg638=
ENST00000678366.1:c.*2253G>A	ENSP00000504353.1:n.*2253G>A
ENST00000678546.1:c.*1949G>A	ENSP00000503062.1:n.*1949G>A
ENST00000678548.1:c.*2143G>A	ENSP00000503934.1:n.*2143G>A
ENST00000678626.1:n.1840G>A
ENST00000678739.1:c.*2170G>A	ENSP00000503806.1:n.*2170G>A
ENST00000678833.1:c.*1756G>A	ENSP00000503893.1:n.*1756G>A
ENST00000679023.1:c.1842G>A	ENSP00000503718.1:p.Arg614=
ENST00000679076.1:c.1623G>A
ENST00000679111.1:c.*760G>A	ENSP00000504257.1:n.*760G>A
ENST00000679189.1:c.1653G>A	ENSP00000503356.1:p.Arg551=
ENST00000341012.11:c.1842G>A	ENSP00000343034.7:p.Arg614=
ENST00000372220.4:c.867G>A	ENSP00000361294.4:p.Arg289=
ENST00000372228.7:c.2070G>A	ENSP00000361302.3:p.Arg690=
ENST00000402686.7:c.2004G>A	ENSP00000385797.3:p.Arg668=
ENST00000404875.6:c.1653G>A	ENSP00000384531.2:p.Arg551=
ENST00000423007.5:c.2004G>A	ENSP00000404119.1:p.Arg668=
ENST00000485278.5:n.2554G>A
NM_001077365.1:c.2004G>A	NP_001070833.1:p.Arg668=
NM_001077366.1:c.1842G>A	NP_001070834.1:p.Arg614=
NM_001136113.1:c.2004G>A	NP_001129585.1:p.Arg668=
NM_001136114.1:c.1653G>A	NP_001129586.1:p.Arg551=
NM_007171.3:c.2070G>A	NP_009102.3:p.Arg690=
XM_005272156.1:c.2070G>A	XP_005272213.1:p.Arg690=
XM_005272158.1:c.1908G>A	XP_005272215.1:p.Arg636=
XM_005272159.1:c.1719G>A	XP_005272216.1:p.Arg573=
XM_005272162.1:c.873G>A	XP_005272219.1:p.Arg291=
XM_006716932.1:c.1719G>A	XP_006716995.1:p.Arg573=
XM_011518140.1:c.1923G>A	XP_011516442.1:p.Arg641=
XM_011518141.1:c.1857G>A	XP_011516443.1:p.Arg619=
XM_011518142.1:c.1761G>A	XP_011516444.1:p.Arg587=
XM_011518143.1:c.1755G>A	XP_011516445.1:p.Arg585=
XM_011518145.1:c.1614G>A	XP_011516447.1:p.Arg538=
XM_011518147.1:c.942G>A	XP_011516449.1:p.Arg314=
XR_929703.1:n.2246G>A
NM_001353193.1:c.2070G>A	NP_001340122.1:p.Arg690=
NM_001353194.1:c.1842G>A	NP_001340123.1:p.Arg614=
NM_001353195.1:c.1653G>A	NP_001340124.1:p.Arg551=
NM_001353196.1:c.1914G>A	NP_001340125.1:p.Arg638=
NM_001353197.1:c.1908G>A	NP_001340126.1:p.Arg636=
NM_001353198.1:c.1908G>A	NP_001340127.1:p.Arg636=
NM_001353199.1:c.1719G>A	NP_001340128.1:p.Arg573=
NM_001353200.1:c.1548G>A	NP_001340129.1:p.Arg516=
NR_148391.1:n.2054G>A
NR_148392.1:n.2272G>A
NR_148393.1:n.2193G>A
NR_148394.1:n.1947G>A
NR_148395.1:n.2345G>A
NR_148396.1:n.1979G>A
NR_148397.1:n.2104G>A
NR_148398.1:n.2059G>A
NR_148399.1:n.2585G>A
NR_148400.1:n.2184G>A
XM_005272162.3:c.873G>A	XP_005272219.1:p.Arg291=
XM_006716932.2:c.1719G>A	XP_006716995.1:p.Arg573=
XM_011518140.2:c.1923G>A	XP_011516442.1:p.Arg641=
XM_011518141.2:c.1857G>A	XP_011516443.1:p.Arg619=
XM_011518142.2:c.1761G>A	XP_011516444.1:p.Arg587=
XM_011518143.2:c.1755G>A	XP_011516445.1:p.Arg585=
XM_011518145.2:c.1614G>A	XP_011516447.1:p.Arg538=
XM_017014205.2:c.873G>A	XP_016869694.1:p.Arg291=
XM_024447380.1:c.873G>A	XP_024303148.1:p.Arg291=
XM_024447381.1:c.1179G>A	XP_024303149.1:p.Arg393=
XM_024447382.1:c.873G>A	XP_024303150.1:p.Arg291=
XR_001746160.2:n.2174G>A
XR_001746162.2:n.2379G>A
XR_001746164.1:n.2096G>A
XR_001746166.2:n.2391G>A
NM_001077365.2:c.2004G>A MANE Select	NP_001070833.1:p.Arg668=
NM_001077366.2:c.1842G>A	NP_001070834.1:p.Arg614=
NM_001136113.2:c.2004G>A	NP_001129585.1:p.Arg668=
NM_001136114.2:c.1653G>A	NP_001129586.1:p.Arg551=
NM_001353193.2:c.2070G>A	NP_001340122.2:p.Arg690=
NM_001353194.2:c.1842G>A	NP_001340123.1:p.Arg614=
NM_001353195.2:c.1653G>A	NP_001340124.1:p.Arg551=
NM_001353196.2:c.1914G>A	NP_001340125.1:p.Arg638=
NM_001353197.2:c.1908G>A	NP_001340126.2:p.Arg636=
NM_001353198.2:c.1908G>A	NP_001340127.2:p.Arg636=
NM_001353199.2:c.1719G>A	NP_001340128.2:p.Arg573=
NM_001353200.2:c.1548G>A	NP_001340129.1:p.Arg516=
NM_001374689.1:c.1992G>A	NP_001361618.1:p.Arg664=
NM_001374690.1:c.1785G>A	NP_001361619.1:p.Arg595=
NM_001374691.1:c.1653G>A	NP_001361620.1:p.Arg551=
NM_001374692.1:c.1653G>A	NP_001361621.1:p.Arg551=
NM_001374693.1:c.1653G>A	NP_001361622.1:p.Arg551=
NM_001374695.1:c.1614G>A	NP_001361624.1:p.Arg538=
NM_007171.4:c.2070G>A	NP_009102.4:p.Arg690=
NR_148391.2:n.2038G>A
NR_148392.2:n.2256G>A
NR_148393.2:n.2177G>A
NR_148394.2:n.1931G>A
NR_148395.2:n.2329G>A
NR_148396.2:n.1963G>A
NR_148397.2:n.2088G>A
NR_148398.2:n.2043G>A
NR_148399.2:n.2569G>A
NR_148400.2:n.2168G>A