Canonical Allele Identifier: CA375315324

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134398437G>C (hg19) ; chr9:g.131523050G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523050G>C , CM000671.2:g.131523050G>C	GRCh38
NC_000009.11:g.134398437G>C , CM000671.1:g.134398437G>C	GRCh37
NC_000009.10:g.133388258G>C	NCBI36
NG_008896.1:g.25149G>C
NG_008896.2:g.25149G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1960G>C	ENSP00000343034.7:p.Glu654Gln
ENST00000404875.7:n.2662G>C
ENST00000423007.6:c.2179G>C	ENSP00000404119.2:p.Glu727Gln
ENST00000677295.2:c.*2466G>C	ENSP00000504346.2:n.*2466G>C
ENST00000678264.2:c.*2305G>C	ENSP00000503157.2:n.*2305G>C
ENST00000682070.1:n.2432G>C
ENST00000682639.1:c.119G>C
ENST00000682813.1:n.2519G>C
ENST00000683231.1:c.119G>C
ENST00000683392.1:n.4714G>C
ENST00000683712.1:n.2527G>C
ENST00000683900.1:n.4022G>C
ENST00000684062.1:n.2788G>C
ENST00000684399.1:c.119G>C
ENST00000684579.1:n.3968G>C
ENST00000341012.12:c.1960G>C	ENSP00000343034.7:p.Glu654Gln
ENST00000372220.5:c.991G>C	ENSP00000361294.5:p.Glu331Gln
ENST00000372228.9:c.2188G>C	ENSP00000361302.3:p.Glu730Gln
ENST00000402686.8:c.2122G>C MANE Select	ENSP00000385797.4:p.Glu708Gln
ENST00000676640.1:c.2122G>C	ENSP00000503281.1:p.Glu708Gln
ENST00000676803.1:c.1183G>C	ENSP00000503093.1:p.Glu395Gln
ENST00000676835.1:c.*1337G>C	ENSP00000502911.1:n.*1337G>C
ENST00000677029.1:c.1666G>C	ENSP00000502936.1:p.Glu556Gln
ENST00000677099.1:c.*1832G>C	ENSP00000504553.1:n.*1832G>C
ENST00000677216.1:c.1771G>C	ENSP00000503772.1:p.Glu591Gln
ENST00000677295.1:c.*1344G>C	ENSP00000504346.1:n.*1344G>C
ENST00000677444.1:c.2067G>C
ENST00000677586.1:n.1489G>C
ENST00000677626.1:c.1771G>C	ENSP00000503552.1:p.Glu591Gln
ENST00000677853.1:c.*1130G>C	ENSP00000503488.1:n.*1130G>C
ENST00000678264.1:c.*1499G>C	ENSP00000503157.1:n.*1499G>C
ENST00000678303.1:c.2032G>C	ENSP00000503696.1:p.Glu678Gln
ENST00000678366.1:c.*2371G>C	ENSP00000504353.1:n.*2371G>C
ENST00000678546.1:c.*2067G>C	ENSP00000503062.1:n.*2067G>C
ENST00000678548.1:c.*2261G>C	ENSP00000503934.1:n.*2261G>C
ENST00000678626.1:n.1958G>C
ENST00000678739.1:c.*2288G>C	ENSP00000503806.1:n.*2288G>C
ENST00000678833.1:c.*1874G>C	ENSP00000503893.1:n.*1874G>C
ENST00000679023.1:c.1960G>C	ENSP00000503718.1:p.Glu654Gln
ENST00000679076.1:c.1741G>C
ENST00000679111.1:c.*878G>C	ENSP00000504257.1:n.*878G>C
ENST00000679189.1:c.1771G>C	ENSP00000503356.1:p.Glu591Gln
ENST00000341012.11:c.1960G>C	ENSP00000343034.7:p.Glu654Gln
ENST00000372220.4:c.985G>C	ENSP00000361294.4:p.Glu329Gln
ENST00000372228.7:c.2188G>C	ENSP00000361302.3:p.Glu730Gln
ENST00000402686.7:c.2122G>C	ENSP00000385797.3:p.Glu708Gln
ENST00000404875.6:c.1771G>C	ENSP00000384531.2:p.Glu591Gln
ENST00000423007.5:c.2122G>C	ENSP00000404119.1:p.Glu708Gln
ENST00000485278.5:n.2672G>C
NM_001077365.1:c.2122G>C	NP_001070833.1:p.Glu708Gln
NM_001077366.1:c.1960G>C	NP_001070834.1:p.Glu654Gln
NM_001136113.1:c.2122G>C	NP_001129585.1:p.Glu708Gln
NM_001136114.1:c.1771G>C	NP_001129586.1:p.Glu591Gln
NM_007171.3:c.2188G>C	NP_009102.3:p.Glu730Gln
XM_005272156.1:c.2188G>C	XP_005272213.1:p.Glu730Gln
XM_005272158.1:c.2026G>C	XP_005272215.1:p.Glu676Gln
XM_005272159.1:c.1837G>C	XP_005272216.1:p.Glu613Gln
XM_005272162.1:c.991G>C	XP_005272219.1:p.Glu331Gln
XM_006716932.1:c.1837G>C	XP_006716995.1:p.Glu613Gln
XM_011518140.1:c.2041G>C	XP_011516442.1:p.Glu681Gln
XM_011518141.1:c.1975G>C	XP_011516443.1:p.Glu659Gln
XM_011518142.1:c.1879G>C	XP_011516444.1:p.Glu627Gln
XM_011518143.1:c.1873G>C	XP_011516445.1:p.Glu625Gln
XM_011518145.1:c.1732G>C	XP_011516447.1:p.Glu578Gln
XM_011518147.1:c.1060G>C	XP_011516449.1:p.Glu354Gln
XR_929703.1:n.2364G>C
NM_001353193.1:c.2188G>C	NP_001340122.1:p.Glu730Gln
NM_001353194.1:c.1960G>C	NP_001340123.1:p.Glu654Gln
NM_001353195.1:c.1771G>C	NP_001340124.1:p.Glu591Gln
NM_001353196.1:c.2032G>C	NP_001340125.1:p.Glu678Gln
NM_001353197.1:c.2026G>C	NP_001340126.1:p.Glu676Gln
NM_001353198.1:c.2026G>C	NP_001340127.1:p.Glu676Gln
NM_001353199.1:c.1837G>C	NP_001340128.1:p.Glu613Gln
NM_001353200.1:c.1666G>C	NP_001340129.1:p.Glu556Gln
NR_148391.1:n.2172G>C
NR_148392.1:n.2390G>C
NR_148393.1:n.2311G>C
NR_148394.1:n.2065G>C
NR_148395.1:n.2463G>C
NR_148396.1:n.2097G>C
NR_148397.1:n.2222G>C
NR_148398.1:n.2177G>C
NR_148399.1:n.2703G>C
NR_148400.1:n.2302G>C
XM_005272162.3:c.991G>C	XP_005272219.1:p.Glu331Gln
XM_006716932.2:c.1837G>C	XP_006716995.1:p.Glu613Gln
XM_011518140.2:c.2041G>C	XP_011516442.1:p.Glu681Gln
XM_011518141.2:c.1975G>C	XP_011516443.1:p.Glu659Gln
XM_011518142.2:c.1879G>C	XP_011516444.1:p.Glu627Gln
XM_011518143.2:c.1873G>C	XP_011516445.1:p.Glu625Gln
XM_011518145.2:c.1732G>C	XP_011516447.1:p.Glu578Gln
XM_017014205.2:c.991G>C	XP_016869694.1:p.Glu331Gln
XM_024447380.1:c.991G>C	XP_024303148.1:p.Glu331Gln
XM_024447381.1:c.1297G>C	XP_024303149.1:p.Glu433Gln
XM_024447382.1:c.991G>C	XP_024303150.1:p.Glu331Gln
XR_001746160.2:n.2292G>C
XR_001746162.2:n.2497G>C
XR_001746164.1:n.2214G>C
XR_001746166.2:n.2509G>C
NM_001077365.2:c.2122G>C MANE Select	NP_001070833.1:p.Glu708Gln
NM_001077366.2:c.1960G>C	NP_001070834.1:p.Glu654Gln
NM_001136113.2:c.2122G>C	NP_001129585.1:p.Glu708Gln
NM_001136114.2:c.1771G>C	NP_001129586.1:p.Glu591Gln
NM_001353193.2:c.2188G>C	NP_001340122.2:p.Glu730Gln
NM_001353194.2:c.1960G>C	NP_001340123.1:p.Glu654Gln
NM_001353195.2:c.1771G>C	NP_001340124.1:p.Glu591Gln
NM_001353196.2:c.2032G>C	NP_001340125.1:p.Glu678Gln
NM_001353197.2:c.2026G>C	NP_001340126.2:p.Glu676Gln
NM_001353198.2:c.2026G>C	NP_001340127.2:p.Glu676Gln
NM_001353199.2:c.1837G>C	NP_001340128.2:p.Glu613Gln
NM_001353200.2:c.1666G>C	NP_001340129.1:p.Glu556Gln
NM_001374689.1:c.2110G>C	NP_001361618.1:p.Glu704Gln
NM_001374690.1:c.1903G>C	NP_001361619.1:p.Glu635Gln
NM_001374691.1:c.1771G>C	NP_001361620.1:p.Glu591Gln
NM_001374692.1:c.1771G>C	NP_001361621.1:p.Glu591Gln
NM_001374693.1:c.1771G>C	NP_001361622.1:p.Glu591Gln
NM_001374695.1:c.1732G>C	NP_001361624.1:p.Glu578Gln
NM_007171.4:c.2188G>C	NP_009102.4:p.Glu730Gln
NR_148391.2:n.2156G>C
NR_148392.2:n.2374G>C
NR_148393.2:n.2295G>C
NR_148394.2:n.2049G>C
NR_148395.2:n.2447G>C
NR_148396.2:n.2081G>C
NR_148397.2:n.2206G>C
NR_148398.2:n.2161G>C
NR_148399.2:n.2687G>C
NR_148400.2:n.2286G>C