Canonical Allele Identifier: CA375315455

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134398471A>G (hg19) ; chr9:g.131523084A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523084A>G , CM000671.2:g.131523084A>G	GRCh38
NC_000009.11:g.134398471A>G , CM000671.1:g.134398471A>G	GRCh37
NC_000009.10:g.133388292A>G	NCBI36
NG_008896.1:g.25183A>G
NG_008896.2:g.25183A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1994A>G	ENSP00000343034.7:p.Asp665Gly
ENST00000404875.7:n.2696A>G
ENST00000423007.6:c.2213A>G	ENSP00000404119.2:p.Asp738Gly
ENST00000677295.2:c.*2500A>G	ENSP00000504346.2:n.*2500A>G
ENST00000678264.2:c.*2339A>G	ENSP00000503157.2:n.*2339A>G
ENST00000682070.1:n.2466A>G
ENST00000682639.1:c.153A>G
ENST00000682813.1:n.2553A>G
ENST00000683231.1:c.153A>G
ENST00000683392.1:n.4748A>G
ENST00000683712.1:n.2561A>G
ENST00000683900.1:n.4056A>G
ENST00000684062.1:n.2822A>G
ENST00000684399.1:c.153A>G
ENST00000684579.1:n.4002A>G
ENST00000341012.12:c.1994A>G	ENSP00000343034.7:p.Asp665Gly
ENST00000372220.5:c.1025A>G	ENSP00000361294.5:p.Asp342Gly
ENST00000372228.9:c.2222A>G	ENSP00000361302.3:p.Asp741Gly
ENST00000402686.8:c.2156A>G MANE Select	ENSP00000385797.4:p.Asp719Gly
ENST00000676640.1:c.2156A>G	ENSP00000503281.1:p.Asp719Gly
ENST00000676803.1:c.1217A>G	ENSP00000503093.1:p.Asp406Gly
ENST00000676835.1:c.*1371A>G	ENSP00000502911.1:n.*1371A>G
ENST00000677029.1:c.1700A>G	ENSP00000502936.1:p.Asp567Gly
ENST00000677099.1:c.*1866A>G	ENSP00000504553.1:n.*1866A>G
ENST00000677216.1:c.1805A>G	ENSP00000503772.1:p.Asp602Gly
ENST00000677295.1:c.*1378A>G	ENSP00000504346.1:n.*1378A>G
ENST00000677444.1:c.2101A>G
ENST00000677586.1:n.1523A>G
ENST00000677626.1:c.1805A>G	ENSP00000503552.1:p.Asp602Gly
ENST00000677853.1:c.*1164A>G	ENSP00000503488.1:n.*1164A>G
ENST00000678264.1:c.*1533A>G	ENSP00000503157.1:n.*1533A>G
ENST00000678303.1:c.2066A>G	ENSP00000503696.1:p.Asp689Gly
ENST00000678366.1:c.*2405A>G	ENSP00000504353.1:n.*2405A>G
ENST00000678546.1:c.*2101A>G	ENSP00000503062.1:n.*2101A>G
ENST00000678548.1:c.*2295A>G	ENSP00000503934.1:n.*2295A>G
ENST00000678626.1:n.1992A>G
ENST00000678739.1:c.*2322A>G	ENSP00000503806.1:n.*2322A>G
ENST00000678833.1:c.*1908A>G	ENSP00000503893.1:n.*1908A>G
ENST00000679023.1:c.1994A>G	ENSP00000503718.1:p.Asp665Gly
ENST00000679076.1:c.1775A>G
ENST00000679111.1:c.*912A>G	ENSP00000504257.1:n.*912A>G
ENST00000679189.1:c.1805A>G	ENSP00000503356.1:p.Asp602Gly
ENST00000341012.11:c.1994A>G	ENSP00000343034.7:p.Asp665Gly
ENST00000372220.4:c.1019A>G	ENSP00000361294.4:p.Asp340Gly
ENST00000372228.7:c.2222A>G	ENSP00000361302.3:p.Asp741Gly
ENST00000402686.7:c.2156A>G	ENSP00000385797.3:p.Asp719Gly
ENST00000404875.6:c.1805A>G	ENSP00000384531.2:p.Asp602Gly
ENST00000423007.5:c.2156A>G	ENSP00000404119.1:p.Asp719Gly
ENST00000485278.5:n.2706A>G
NM_001077365.1:c.2156A>G	NP_001070833.1:p.Asp719Gly
NM_001077366.1:c.1994A>G	NP_001070834.1:p.Asp665Gly
NM_001136113.1:c.2156A>G	NP_001129585.1:p.Asp719Gly
NM_001136114.1:c.1805A>G	NP_001129586.1:p.Asp602Gly
NM_007171.3:c.2222A>G	NP_009102.3:p.Asp741Gly
XM_005272156.1:c.2222A>G	XP_005272213.1:p.Asp741Gly
XM_005272158.1:c.2060A>G	XP_005272215.1:p.Asp687Gly
XM_005272159.1:c.1871A>G	XP_005272216.1:p.Asp624Gly
XM_005272162.1:c.1025A>G	XP_005272219.1:p.Asp342Gly
XM_006716932.1:c.1871A>G	XP_006716995.1:p.Asp624Gly
XM_011518140.1:c.2075A>G	XP_011516442.1:p.Asp692Gly
XM_011518141.1:c.2009A>G	XP_011516443.1:p.Asp670Gly
XM_011518142.1:c.1913A>G	XP_011516444.1:p.Asp638Gly
XM_011518143.1:c.1907A>G	XP_011516445.1:p.Asp636Gly
XM_011518145.1:c.1766A>G	XP_011516447.1:p.Asp589Gly
XM_011518147.1:c.1094A>G	XP_011516449.1:p.Asp365Gly
XR_929703.1:n.2398A>G
NM_001353193.1:c.2222A>G	NP_001340122.1:p.Asp741Gly
NM_001353194.1:c.1994A>G	NP_001340123.1:p.Asp665Gly
NM_001353195.1:c.1805A>G	NP_001340124.1:p.Asp602Gly
NM_001353196.1:c.2066A>G	NP_001340125.1:p.Asp689Gly
NM_001353197.1:c.2060A>G	NP_001340126.1:p.Asp687Gly
NM_001353198.1:c.2060A>G	NP_001340127.1:p.Asp687Gly
NM_001353199.1:c.1871A>G	NP_001340128.1:p.Asp624Gly
NM_001353200.1:c.1700A>G	NP_001340129.1:p.Asp567Gly
NR_148391.1:n.2206A>G
NR_148392.1:n.2424A>G
NR_148393.1:n.2345A>G
NR_148394.1:n.2099A>G
NR_148395.1:n.2497A>G
NR_148396.1:n.2131A>G
NR_148397.1:n.2256A>G
NR_148398.1:n.2211A>G
NR_148399.1:n.2737A>G
NR_148400.1:n.2336A>G
XM_005272162.3:c.1025A>G	XP_005272219.1:p.Asp342Gly
XM_006716932.2:c.1871A>G	XP_006716995.1:p.Asp624Gly
XM_011518140.2:c.2075A>G	XP_011516442.1:p.Asp692Gly
XM_011518141.2:c.2009A>G	XP_011516443.1:p.Asp670Gly
XM_011518142.2:c.1913A>G	XP_011516444.1:p.Asp638Gly
XM_011518143.2:c.1907A>G	XP_011516445.1:p.Asp636Gly
XM_011518145.2:c.1766A>G	XP_011516447.1:p.Asp589Gly
XM_017014205.2:c.1025A>G	XP_016869694.1:p.Asp342Gly
XM_024447380.1:c.1025A>G	XP_024303148.1:p.Asp342Gly
XM_024447381.1:c.1331A>G	XP_024303149.1:p.Asp444Gly
XM_024447382.1:c.1025A>G	XP_024303150.1:p.Asp342Gly
XR_001746160.2:n.2326A>G
XR_001746162.2:n.2531A>G
XR_001746164.1:n.2248A>G
XR_001746166.2:n.2543A>G
NM_001077365.2:c.2156A>G MANE Select	NP_001070833.1:p.Asp719Gly
NM_001077366.2:c.1994A>G	NP_001070834.1:p.Asp665Gly
NM_001136113.2:c.2156A>G	NP_001129585.1:p.Asp719Gly
NM_001136114.2:c.1805A>G	NP_001129586.1:p.Asp602Gly
NM_001353193.2:c.2222A>G	NP_001340122.2:p.Asp741Gly
NM_001353194.2:c.1994A>G	NP_001340123.1:p.Asp665Gly
NM_001353195.2:c.1805A>G	NP_001340124.1:p.Asp602Gly
NM_001353196.2:c.2066A>G	NP_001340125.1:p.Asp689Gly
NM_001353197.2:c.2060A>G	NP_001340126.2:p.Asp687Gly
NM_001353198.2:c.2060A>G	NP_001340127.2:p.Asp687Gly
NM_001353199.2:c.1871A>G	NP_001340128.2:p.Asp624Gly
NM_001353200.2:c.1700A>G	NP_001340129.1:p.Asp567Gly
NM_001374689.1:c.2144A>G	NP_001361618.1:p.Asp715Gly
NM_001374690.1:c.1937A>G	NP_001361619.1:p.Asp646Gly
NM_001374691.1:c.1805A>G	NP_001361620.1:p.Asp602Gly
NM_001374692.1:c.1805A>G	NP_001361621.1:p.Asp602Gly
NM_001374693.1:c.1805A>G	NP_001361622.1:p.Asp602Gly
NM_001374695.1:c.1766A>G	NP_001361624.1:p.Asp589Gly
NM_007171.4:c.2222A>G	NP_009102.4:p.Asp741Gly
NR_148391.2:n.2190A>G
NR_148392.2:n.2408A>G
NR_148393.2:n.2329A>G
NR_148394.2:n.2083A>G
NR_148395.2:n.2481A>G
NR_148396.2:n.2115A>G
NR_148397.2:n.2240A>G
NR_148398.2:n.2195A>G
NR_148399.2:n.2721A>G
NR_148400.2:n.2320A>G