Canonical Allele Identifier: CA375315396

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134398458A>G (hg19) ; chr9:g.131523071A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523071A>G , CM000671.2:g.131523071A>G	GRCh38
NC_000009.11:g.134398458A>G , CM000671.1:g.134398458A>G	GRCh37
NC_000009.10:g.133388279A>G	NCBI36
NG_008896.1:g.25170A>G
NG_008896.2:g.25170A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.1981A>G	ENSP00000343034.7:p.Lys661Glu
ENST00000404875.7:n.2683A>G
ENST00000423007.6:c.2200A>G	ENSP00000404119.2:p.Lys734Glu
ENST00000677295.2:c.*2487A>G	ENSP00000504346.2:n.*2487A>G
ENST00000678264.2:c.*2326A>G	ENSP00000503157.2:n.*2326A>G
ENST00000682070.1:n.2453A>G
ENST00000682639.1:c.140A>G
ENST00000682813.1:n.2540A>G
ENST00000683231.1:c.140A>G
ENST00000683392.1:n.4735A>G
ENST00000683712.1:n.2548A>G
ENST00000683900.1:n.4043A>G
ENST00000684062.1:n.2809A>G
ENST00000684399.1:c.140A>G
ENST00000684579.1:n.3989A>G
ENST00000341012.12:c.1981A>G	ENSP00000343034.7:p.Lys661Glu
ENST00000372220.5:c.1012A>G	ENSP00000361294.5:p.Lys338Glu
ENST00000372228.9:c.2209A>G	ENSP00000361302.3:p.Lys737Glu
ENST00000402686.8:c.2143A>G MANE Select	ENSP00000385797.4:p.Lys715Glu
ENST00000676640.1:c.2143A>G	ENSP00000503281.1:p.Lys715Glu
ENST00000676803.1:c.1204A>G	ENSP00000503093.1:p.Lys402Glu
ENST00000676835.1:c.*1358A>G	ENSP00000502911.1:n.*1358A>G
ENST00000677029.1:c.1687A>G	ENSP00000502936.1:p.Lys563Glu
ENST00000677099.1:c.*1853A>G	ENSP00000504553.1:n.*1853A>G
ENST00000677216.1:c.1792A>G	ENSP00000503772.1:p.Lys598Glu
ENST00000677295.1:c.*1365A>G	ENSP00000504346.1:n.*1365A>G
ENST00000677444.1:c.2088A>G
ENST00000677586.1:n.1510A>G
ENST00000677626.1:c.1792A>G	ENSP00000503552.1:p.Lys598Glu
ENST00000677853.1:c.*1151A>G	ENSP00000503488.1:n.*1151A>G
ENST00000678264.1:c.*1520A>G	ENSP00000503157.1:n.*1520A>G
ENST00000678303.1:c.2053A>G	ENSP00000503696.1:p.Lys685Glu
ENST00000678366.1:c.*2392A>G	ENSP00000504353.1:n.*2392A>G
ENST00000678546.1:c.*2088A>G	ENSP00000503062.1:n.*2088A>G
ENST00000678548.1:c.*2282A>G	ENSP00000503934.1:n.*2282A>G
ENST00000678626.1:n.1979A>G
ENST00000678739.1:c.*2309A>G	ENSP00000503806.1:n.*2309A>G
ENST00000678833.1:c.*1895A>G	ENSP00000503893.1:n.*1895A>G
ENST00000679023.1:c.1981A>G	ENSP00000503718.1:p.Lys661Glu
ENST00000679076.1:c.1762A>G
ENST00000679111.1:c.*899A>G	ENSP00000504257.1:n.*899A>G
ENST00000679189.1:c.1792A>G	ENSP00000503356.1:p.Lys598Glu
ENST00000341012.11:c.1981A>G	ENSP00000343034.7:p.Lys661Glu
ENST00000372220.4:c.1006A>G	ENSP00000361294.4:p.Lys336Glu
ENST00000372228.7:c.2209A>G	ENSP00000361302.3:p.Lys737Glu
ENST00000402686.7:c.2143A>G	ENSP00000385797.3:p.Lys715Glu
ENST00000404875.6:c.1792A>G	ENSP00000384531.2:p.Lys598Glu
ENST00000423007.5:c.2143A>G	ENSP00000404119.1:p.Lys715Glu
ENST00000485278.5:n.2693A>G
NM_001077365.1:c.2143A>G	NP_001070833.1:p.Lys715Glu
NM_001077366.1:c.1981A>G	NP_001070834.1:p.Lys661Glu
NM_001136113.1:c.2143A>G	NP_001129585.1:p.Lys715Glu
NM_001136114.1:c.1792A>G	NP_001129586.1:p.Lys598Glu
NM_007171.3:c.2209A>G	NP_009102.3:p.Lys737Glu
XM_005272156.1:c.2209A>G	XP_005272213.1:p.Lys737Glu
XM_005272158.1:c.2047A>G	XP_005272215.1:p.Lys683Glu
XM_005272159.1:c.1858A>G	XP_005272216.1:p.Lys620Glu
XM_005272162.1:c.1012A>G	XP_005272219.1:p.Lys338Glu
XM_006716932.1:c.1858A>G	XP_006716995.1:p.Lys620Glu
XM_011518140.1:c.2062A>G	XP_011516442.1:p.Lys688Glu
XM_011518141.1:c.1996A>G	XP_011516443.1:p.Lys666Glu
XM_011518142.1:c.1900A>G	XP_011516444.1:p.Lys634Glu
XM_011518143.1:c.1894A>G	XP_011516445.1:p.Lys632Glu
XM_011518145.1:c.1753A>G	XP_011516447.1:p.Lys585Glu
XM_011518147.1:c.1081A>G	XP_011516449.1:p.Lys361Glu
XR_929703.1:n.2385A>G
NM_001353193.1:c.2209A>G	NP_001340122.1:p.Lys737Glu
NM_001353194.1:c.1981A>G	NP_001340123.1:p.Lys661Glu
NM_001353195.1:c.1792A>G	NP_001340124.1:p.Lys598Glu
NM_001353196.1:c.2053A>G	NP_001340125.1:p.Lys685Glu
NM_001353197.1:c.2047A>G	NP_001340126.1:p.Lys683Glu
NM_001353198.1:c.2047A>G	NP_001340127.1:p.Lys683Glu
NM_001353199.1:c.1858A>G	NP_001340128.1:p.Lys620Glu
NM_001353200.1:c.1687A>G	NP_001340129.1:p.Lys563Glu
NR_148391.1:n.2193A>G
NR_148392.1:n.2411A>G
NR_148393.1:n.2332A>G
NR_148394.1:n.2086A>G
NR_148395.1:n.2484A>G
NR_148396.1:n.2118A>G
NR_148397.1:n.2243A>G
NR_148398.1:n.2198A>G
NR_148399.1:n.2724A>G
NR_148400.1:n.2323A>G
XM_005272162.3:c.1012A>G	XP_005272219.1:p.Lys338Glu
XM_006716932.2:c.1858A>G	XP_006716995.1:p.Lys620Glu
XM_011518140.2:c.2062A>G	XP_011516442.1:p.Lys688Glu
XM_011518141.2:c.1996A>G	XP_011516443.1:p.Lys666Glu
XM_011518142.2:c.1900A>G	XP_011516444.1:p.Lys634Glu
XM_011518143.2:c.1894A>G	XP_011516445.1:p.Lys632Glu
XM_011518145.2:c.1753A>G	XP_011516447.1:p.Lys585Glu
XM_017014205.2:c.1012A>G	XP_016869694.1:p.Lys338Glu
XM_024447380.1:c.1012A>G	XP_024303148.1:p.Lys338Glu
XM_024447381.1:c.1318A>G	XP_024303149.1:p.Lys440Glu
XM_024447382.1:c.1012A>G	XP_024303150.1:p.Lys338Glu
XR_001746160.2:n.2313A>G
XR_001746162.2:n.2518A>G
XR_001746164.1:n.2235A>G
XR_001746166.2:n.2530A>G
NM_001077365.2:c.2143A>G MANE Select	NP_001070833.1:p.Lys715Glu
NM_001077366.2:c.1981A>G	NP_001070834.1:p.Lys661Glu
NM_001136113.2:c.2143A>G	NP_001129585.1:p.Lys715Glu
NM_001136114.2:c.1792A>G	NP_001129586.1:p.Lys598Glu
NM_001353193.2:c.2209A>G	NP_001340122.2:p.Lys737Glu
NM_001353194.2:c.1981A>G	NP_001340123.1:p.Lys661Glu
NM_001353195.2:c.1792A>G	NP_001340124.1:p.Lys598Glu
NM_001353196.2:c.2053A>G	NP_001340125.1:p.Lys685Glu
NM_001353197.2:c.2047A>G	NP_001340126.2:p.Lys683Glu
NM_001353198.2:c.2047A>G	NP_001340127.2:p.Lys683Glu
NM_001353199.2:c.1858A>G	NP_001340128.2:p.Lys620Glu
NM_001353200.2:c.1687A>G	NP_001340129.1:p.Lys563Glu
NM_001374689.1:c.2131A>G	NP_001361618.1:p.Lys711Glu
NM_001374690.1:c.1924A>G	NP_001361619.1:p.Lys642Glu
NM_001374691.1:c.1792A>G	NP_001361620.1:p.Lys598Glu
NM_001374692.1:c.1792A>G	NP_001361621.1:p.Lys598Glu
NM_001374693.1:c.1792A>G	NP_001361622.1:p.Lys598Glu
NM_001374695.1:c.1753A>G	NP_001361624.1:p.Lys585Glu
NM_007171.4:c.2209A>G	NP_009102.4:p.Lys737Glu
NR_148391.2:n.2177A>G
NR_148392.2:n.2395A>G
NR_148393.2:n.2316A>G
NR_148394.2:n.2070A>G
NR_148395.2:n.2468A>G
NR_148396.2:n.2102A>G
NR_148397.2:n.2227A>G
NR_148398.2:n.2182A>G
NR_148399.2:n.2708A>G
NR_148400.2:n.2307A>G