Canonical Allele Identifier: CA5293939

Gene: POMT1

Linked Data

• ClinVar Variation Id: 655812
• ClinVar RCV Id: RCV000812068
• dbSNP Id: rs771877812
• ExAC: 9:134398416 G / T
• gnomAD v2: 9-134398416-G-T
• gnomAD v4: 9-131523029-G-T
• MyVariant Identifiers: chr9:g.134398416G>T (hg19) ; chr9:g.131523029G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523029G>T , CM000671.2:g.131523029G>T	GRCh38
NC_000009.11:g.134398416G>T , CM000671.1:g.134398416G>T	GRCh37
NC_000009.10:g.133388237G>T	NCBI36
NG_008896.1:g.25128G>T
NG_008896.2:g.25128G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1939G>T	ENSP00000343034.7:p.Asp647Tyr
ENST00000404875.7:n.2641G>T
ENST00000423007.6:c.2158G>T	ENSP00000404119.2:p.Asp720Tyr
ENST00000677295.2:c.*2445G>T	ENSP00000504346.2:n.*2445G>T
ENST00000678264.2:c.*2284G>T	ENSP00000503157.2:n.*2284G>T
ENST00000682070.1:n.2411G>T
ENST00000682639.1:c.98G>T
ENST00000682813.1:n.2498G>T
ENST00000683231.1:c.98G>T
ENST00000683392.1:n.4693G>T
ENST00000683712.1:n.2506G>T
ENST00000683900.1:n.4001G>T
ENST00000684062.1:n.2767G>T
ENST00000684399.1:c.98G>T
ENST00000684579.1:n.3947G>T
ENST00000341012.12:c.1939G>T	ENSP00000343034.7:p.Asp647Tyr
ENST00000372220.5:c.970G>T	ENSP00000361294.5:p.Asp324Tyr
ENST00000372228.9:c.2167G>T	ENSP00000361302.3:p.Asp723Tyr
ENST00000402686.8:c.2101G>T MANE Select	ENSP00000385797.4:p.Asp701Tyr
ENST00000676640.1:c.2101G>T	ENSP00000503281.1:p.Asp701Tyr
ENST00000676803.1:c.1162G>T	ENSP00000503093.1:p.Asp388Tyr
ENST00000676835.1:c.*1316G>T	ENSP00000502911.1:n.*1316G>T
ENST00000677029.1:c.1645G>T	ENSP00000502936.1:p.Asp549Tyr
ENST00000677099.1:c.*1811G>T	ENSP00000504553.1:n.*1811G>T
ENST00000677216.1:c.1750G>T	ENSP00000503772.1:p.Asp584Tyr
ENST00000677295.1:c.*1323G>T	ENSP00000504346.1:n.*1323G>T
ENST00000677444.1:c.2046G>T
ENST00000677586.1:n.1468G>T
ENST00000677626.1:c.1750G>T	ENSP00000503552.1:p.Asp584Tyr
ENST00000677853.1:c.*1109G>T	ENSP00000503488.1:n.*1109G>T
ENST00000678264.1:c.*1478G>T	ENSP00000503157.1:n.*1478G>T
ENST00000678303.1:c.2011G>T	ENSP00000503696.1:p.Asp671Tyr
ENST00000678366.1:c.*2350G>T	ENSP00000504353.1:n.*2350G>T
ENST00000678546.1:c.*2046G>T	ENSP00000503062.1:n.*2046G>T
ENST00000678548.1:c.*2240G>T	ENSP00000503934.1:n.*2240G>T
ENST00000678626.1:n.1937G>T
ENST00000678739.1:c.*2267G>T	ENSP00000503806.1:n.*2267G>T
ENST00000678833.1:c.*1853G>T	ENSP00000503893.1:n.*1853G>T
ENST00000679023.1:c.1939G>T	ENSP00000503718.1:p.Asp647Tyr
ENST00000679076.1:c.1720G>T
ENST00000679111.1:c.*857G>T	ENSP00000504257.1:n.*857G>T
ENST00000679189.1:c.1750G>T	ENSP00000503356.1:p.Asp584Tyr
ENST00000341012.11:c.1939G>T	ENSP00000343034.7:p.Asp647Tyr
ENST00000372220.4:c.964G>T	ENSP00000361294.4:p.Asp322Tyr
ENST00000372228.7:c.2167G>T	ENSP00000361302.3:p.Asp723Tyr
ENST00000402686.7:c.2101G>T	ENSP00000385797.3:p.Asp701Tyr
ENST00000404875.6:c.1750G>T	ENSP00000384531.2:p.Asp584Tyr
ENST00000423007.5:c.2101G>T	ENSP00000404119.1:p.Asp701Tyr
ENST00000485278.5:n.2651G>T
NM_001077365.1:c.2101G>T	NP_001070833.1:p.Asp701Tyr
NM_001077366.1:c.1939G>T	NP_001070834.1:p.Asp647Tyr
NM_001136113.1:c.2101G>T	NP_001129585.1:p.Asp701Tyr
NM_001136114.1:c.1750G>T	NP_001129586.1:p.Asp584Tyr
NM_007171.3:c.2167G>T	NP_009102.3:p.Asp723Tyr
XM_005272156.1:c.2167G>T	XP_005272213.1:p.Asp723Tyr
XM_005272158.1:c.2005G>T	XP_005272215.1:p.Asp669Tyr
XM_005272159.1:c.1816G>T	XP_005272216.1:p.Asp606Tyr
XM_005272162.1:c.970G>T	XP_005272219.1:p.Asp324Tyr
XM_006716932.1:c.1816G>T	XP_006716995.1:p.Asp606Tyr
XM_011518140.1:c.2020G>T	XP_011516442.1:p.Asp674Tyr
XM_011518141.1:c.1954G>T	XP_011516443.1:p.Asp652Tyr
XM_011518142.1:c.1858G>T	XP_011516444.1:p.Asp620Tyr
XM_011518143.1:c.1852G>T	XP_011516445.1:p.Asp618Tyr
XM_011518145.1:c.1711G>T	XP_011516447.1:p.Asp571Tyr
XM_011518147.1:c.1039G>T	XP_011516449.1:p.Asp347Tyr
XR_929703.1:n.2343G>T
NM_001353193.1:c.2167G>T	NP_001340122.1:p.Asp723Tyr
NM_001353194.1:c.1939G>T	NP_001340123.1:p.Asp647Tyr
NM_001353195.1:c.1750G>T	NP_001340124.1:p.Asp584Tyr
NM_001353196.1:c.2011G>T	NP_001340125.1:p.Asp671Tyr
NM_001353197.1:c.2005G>T	NP_001340126.1:p.Asp669Tyr
NM_001353198.1:c.2005G>T	NP_001340127.1:p.Asp669Tyr
NM_001353199.1:c.1816G>T	NP_001340128.1:p.Asp606Tyr
NM_001353200.1:c.1645G>T	NP_001340129.1:p.Asp549Tyr
NR_148391.1:n.2151G>T
NR_148392.1:n.2369G>T
NR_148393.1:n.2290G>T
NR_148394.1:n.2044G>T
NR_148395.1:n.2442G>T
NR_148396.1:n.2076G>T
NR_148397.1:n.2201G>T
NR_148398.1:n.2156G>T
NR_148399.1:n.2682G>T
NR_148400.1:n.2281G>T
XM_005272162.3:c.970G>T	XP_005272219.1:p.Asp324Tyr
XM_006716932.2:c.1816G>T	XP_006716995.1:p.Asp606Tyr
XM_011518140.2:c.2020G>T	XP_011516442.1:p.Asp674Tyr
XM_011518141.2:c.1954G>T	XP_011516443.1:p.Asp652Tyr
XM_011518142.2:c.1858G>T	XP_011516444.1:p.Asp620Tyr
XM_011518143.2:c.1852G>T	XP_011516445.1:p.Asp618Tyr
XM_011518145.2:c.1711G>T	XP_011516447.1:p.Asp571Tyr
XM_017014205.2:c.970G>T	XP_016869694.1:p.Asp324Tyr
XM_024447380.1:c.970G>T	XP_024303148.1:p.Asp324Tyr
XM_024447381.1:c.1276G>T	XP_024303149.1:p.Asp426Tyr
XM_024447382.1:c.970G>T	XP_024303150.1:p.Asp324Tyr
XR_001746160.2:n.2271G>T
XR_001746162.2:n.2476G>T
XR_001746164.1:n.2193G>T
XR_001746166.2:n.2488G>T
NM_001077365.2:c.2101G>T MANE Select	NP_001070833.1:p.Asp701Tyr
NM_001077366.2:c.1939G>T	NP_001070834.1:p.Asp647Tyr
NM_001136113.2:c.2101G>T	NP_001129585.1:p.Asp701Tyr
NM_001136114.2:c.1750G>T	NP_001129586.1:p.Asp584Tyr
NM_001353193.2:c.2167G>T	NP_001340122.2:p.Asp723Tyr
NM_001353194.2:c.1939G>T	NP_001340123.1:p.Asp647Tyr
NM_001353195.2:c.1750G>T	NP_001340124.1:p.Asp584Tyr
NM_001353196.2:c.2011G>T	NP_001340125.1:p.Asp671Tyr
NM_001353197.2:c.2005G>T	NP_001340126.2:p.Asp669Tyr
NM_001353198.2:c.2005G>T	NP_001340127.2:p.Asp669Tyr
NM_001353199.2:c.1816G>T	NP_001340128.2:p.Asp606Tyr
NM_001353200.2:c.1645G>T	NP_001340129.1:p.Asp549Tyr
NM_001374689.1:c.2089G>T	NP_001361618.1:p.Asp697Tyr
NM_001374690.1:c.1882G>T	NP_001361619.1:p.Asp628Tyr
NM_001374691.1:c.1750G>T	NP_001361620.1:p.Asp584Tyr
NM_001374692.1:c.1750G>T	NP_001361621.1:p.Asp584Tyr
NM_001374693.1:c.1750G>T	NP_001361622.1:p.Asp584Tyr
NM_001374695.1:c.1711G>T	NP_001361624.1:p.Asp571Tyr
NM_007171.4:c.2167G>T	NP_009102.4:p.Asp723Tyr
NR_148391.2:n.2135G>T
NR_148392.2:n.2353G>T
NR_148393.2:n.2274G>T
NR_148394.2:n.2028G>T
NR_148395.2:n.2426G>T
NR_148396.2:n.2060G>T
NR_148397.2:n.2185G>T
NR_148398.2:n.2140G>T
NR_148399.2:n.2666G>T
NR_148400.2:n.2265G>T