Canonical Allele Identifier: CA5293822

Gene: POMT1

Linked Data

• dbSNP Id: rs747790745
• ExAC: 9:134396826 C / CGGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCT
• MyVariant Identifiers: chr9:g.134396826_134396827insGGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCT (hg19) ; chr9:g.131521439_131521440insGGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131521440_131521441insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG , CM000671.2:g.131521440_131521441insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	GRCh38
NC_000009.11:g.134396827_134396828insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG , CM000671.1:g.134396827_134396828insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	GRCh37
NC_000009.10:g.133386648_133386649insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	NCBI36
NG_008896.1:g.23539_23540insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG
NG_008896.2:g.23539_23540insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1631_1632insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	ENSP00000343034.7:p.Arg545LeufsTer12
ENST00000404875.7:n.2333_2334insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG
ENST00000423007.6:c.1850_1851insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	ENSP00000404119.2:p.Arg618LeufsTer12
ENST00000677295.2:c.*2137_*2138insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	ENSP00000504346.2:n.*2137_*2138insGCTGCACCCCAGGACCAGCGTAAGCGA...
ENST00000678264.2:c.*1976_*1977insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	ENSP00000503157.2:n.*1976_*1977insGCTGCACCCCAGGACCAGCGTAAGCGA...
ENST00000682070.1:n.2258_2259insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG
ENST00000682813.1:n.2197_2198insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG
ENST00000683392.1:n.4540_4541insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG
ENST00000683712.1:n.2198_2199insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG
ENST00000683900.1:n.3693_3694insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG
ENST00000684062.1:n.2459_2460insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG
ENST00000684579.1:n.3639_3640insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG
ENST00000684679.1:n.1020_1021insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG
ENST00000341012.12:c.1631_1632insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	ENSP00000343034.7:p.Arg545LeufsTer12
ENST00000372220.5:c.662_663insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	ENSP00000361294.5:p.Arg222LeufsTer12
ENST00000372228.9:c.1859_1860insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	ENSP00000361302.3:p.Arg621LeufsTer12
ENST00000402686.8:c.1793_1794insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG MANE Select	ENSP00000385797.4:p.Arg599LeufsTer12
ENST00000676640.1:c.1793_1794insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	ENSP00000503281.1:p.Arg599LeufsTer12
ENST00000676803.1:c.854_855insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	ENSP00000503093.1:p.Arg286LeufsTer12
ENST00000676835.1:c.*1008_*1009insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	ENSP00000502911.1:n.*1008_*1009insGCTGCACCCCAGGACCAGCGTAAGCGA...
ENST00000677029.1:c.1337_1338insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	ENSP00000502936.1:p.Arg447LeufsTer12
ENST00000677099.1:c.*1503_*1504insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	ENSP00000504553.1:n.*1503_*1504insGCTGCACCCCAGGACCAGCGTAAGCGA...
ENST00000677216.1:c.1442_1443insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	ENSP00000503772.1:p.Arg482LeufsTer12
ENST00000677221.1:n.818_819insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG
ENST00000677295.1:c.*1170_*1171insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	ENSP00000504346.1:n.*1170_*1171insGCTGCACCCCAGGACCAGCGTAAGCGA...
ENST00000677444.1:c.1738_1739insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG
ENST00000677586.1:n.1160_1161insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG
ENST00000677626.1:c.1442_1443insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	ENSP00000503552.1:p.Arg482LeufsTer12
ENST00000677853.1:c.*801_*802insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	ENSP00000503488.1:n.*801_*802insGCTGCACCCCAGGACCAGCGTAAGCGAGC...
ENST00000678202.1:n.952_953insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG
ENST00000678264.1:c.*1170_*1171insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	ENSP00000503157.1:n.*1170_*1171insGCTGCACCCCAGGACCAGCGTAAGCGA...
ENST00000678303.1:c.1703_1704insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	ENSP00000503696.1:p.Arg569LeufsTer12
ENST00000678366.1:c.*2042_*2043insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	ENSP00000504353.1:n.*2042_*2043insGCTGCACCCCAGGACCAGCGTAAGCGA...
ENST00000678546.1:c.*1738_*1739insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	ENSP00000503062.1:n.*1738_*1739insGCTGCACCCCAGGACCAGCGTAAGCGA...
ENST00000678548.1:c.*1865_*1866insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	ENSP00000503934.1:n.*1865_*1866insGCTGCACCCCAGGACCAGCGTAAGCGA...
ENST00000678626.1:n.1629_1630insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG
ENST00000678739.1:c.*2114_*2115insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	ENSP00000503806.1:n.*2114_*2115insGCTGCACCCCAGGACCAGCGTAAGCGA...
ENST00000678833.1:c.*1545_*1546insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	ENSP00000503893.1:n.*1545_*1546insGCTGCACCCCAGGACCAGCGTAAGCGA...
ENST00000679023.1:c.1631_1632insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	ENSP00000503718.1:p.Arg545LeufsTer12
ENST00000679076.1:c.1412_1413insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG
ENST00000679111.1:c.*549_*550insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	ENSP00000504257.1:n.*549_*550insGCTGCACCCCAGGACCAGCGTAAGCGAGC...
ENST00000679189.1:c.1442_1443insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	ENSP00000503356.1:p.Arg482LeufsTer12
ENST00000341012.11:c.1631_1632insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	ENSP00000343034.7:p.Arg545LeufsTer12
ENST00000372220.4:c.656_657insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	ENSP00000361294.4:p.Arg220LeufsTer12
ENST00000372228.7:c.1859_1860insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	ENSP00000361302.3:p.Arg621LeufsTer12
ENST00000402686.7:c.1793_1794insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	ENSP00000385797.3:p.Arg599LeufsTer12
ENST00000404875.6:c.1442_1443insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	ENSP00000384531.2:p.Arg482LeufsTer12
ENST00000423007.5:c.1793_1794insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	ENSP00000404119.1:p.Arg599LeufsTer12
ENST00000485278.5:n.2343_2344insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG
ENST00000494883.1:n.336_337insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG
NM_001077365.1:c.1793_1794insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	NP_001070833.1:p.Arg599LeufsTer12
NM_001077366.1:c.1631_1632insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	NP_001070834.1:p.Arg545LeufsTer12
NM_001136113.1:c.1793_1794insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	NP_001129585.1:p.Arg599LeufsTer12
NM_001136114.1:c.1442_1443insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	NP_001129586.1:p.Arg482LeufsTer12
NM_007171.3:c.1859_1860insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	NP_009102.3:p.Arg621LeufsTer12
XM_005272156.1:c.1859_1860insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	XP_005272213.1:p.Arg621LeufsTer12
XM_005272158.1:c.1697_1698insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	XP_005272215.1:p.Arg567LeufsTer12
XM_005272159.1:c.1508_1509insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	XP_005272216.1:p.Arg504LeufsTer12
XM_005272162.1:c.662_663insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	XP_005272219.1:p.Arg222LeufsTer12
XM_006716932.1:c.1508_1509insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	XP_006716995.1:p.Arg504LeufsTer12
XM_011518140.1:c.1712_1713insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	XP_011516442.1:p.Arg572LeufsTer12
XM_011518141.1:c.1646_1647insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	XP_011516443.1:p.Arg550LeufsTer12
XM_011518142.1:c.1550_1551insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	XP_011516444.1:p.Arg518LeufsTer12
XM_011518143.1:c.1544_1545insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	XP_011516445.1:p.Arg516LeufsTer12
XM_011518145.1:c.1403_1404insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	XP_011516447.1:p.Arg469LeufsTer12
XM_011518147.1:c.731_732insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	XP_011516449.1:p.Arg245LeufsTer12
XR_929703.1:n.2035_2036insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG
NM_001353193.1:c.1859_1860insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	NP_001340122.1:p.Arg621LeufsTer12
NM_001353194.1:c.1631_1632insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	NP_001340123.1:p.Arg545LeufsTer12
NM_001353195.1:c.1442_1443insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	NP_001340124.1:p.Arg482LeufsTer12
NM_001353196.1:c.1703_1704insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	NP_001340125.1:p.Arg569LeufsTer12
NM_001353197.1:c.1697_1698insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	NP_001340126.1:p.Arg567LeufsTer12
NM_001353198.1:c.1697_1698insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	NP_001340127.1:p.Arg567LeufsTer12
NM_001353199.1:c.1508_1509insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	NP_001340128.1:p.Arg504LeufsTer12
NM_001353200.1:c.1337_1338insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	NP_001340129.1:p.Arg447LeufsTer12
NR_148391.1:n.1843_1844insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG
NR_148392.1:n.2061_2062insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG
NR_148393.1:n.1982_1983insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG
NR_148394.1:n.1736_1737insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG
NR_148395.1:n.2134_2135insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG
NR_148396.1:n.1768_1769insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG
NR_148397.1:n.1893_1894insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG
NR_148398.1:n.1848_1849insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG
NR_148399.1:n.2374_2375insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG
NR_148400.1:n.1973_1974insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG
XM_005272162.3:c.662_663insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	XP_005272219.1:p.Arg222LeufsTer12
XM_006716932.2:c.1508_1509insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	XP_006716995.1:p.Arg504LeufsTer12
XM_011518140.2:c.1712_1713insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	XP_011516442.1:p.Arg572LeufsTer12
XM_011518141.2:c.1646_1647insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	XP_011516443.1:p.Arg550LeufsTer12
XM_011518142.2:c.1550_1551insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	XP_011516444.1:p.Arg518LeufsTer12
XM_011518143.2:c.1544_1545insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	XP_011516445.1:p.Arg516LeufsTer12
XM_011518145.2:c.1403_1404insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	XP_011516447.1:p.Arg469LeufsTer12
XM_017014205.2:c.662_663insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	XP_016869694.1:p.Arg222LeufsTer12
XM_024447380.1:c.662_663insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	XP_024303148.1:p.Arg222LeufsTer12
XM_024447381.1:c.968_969insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	XP_024303149.1:p.Arg324LeufsTer12
XM_024447382.1:c.662_663insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	XP_024303150.1:p.Arg222LeufsTer12
XR_001746160.2:n.1963_1964insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG
XR_001746162.2:n.2168_2169insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG
XR_001746164.1:n.1885_1886insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG
XR_001746166.2:n.2180_2181insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG
NM_001077365.2:c.1793_1794insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG MANE Select	NP_001070833.1:p.Arg599LeufsTer12
NM_001077366.2:c.1631_1632insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	NP_001070834.1:p.Arg545LeufsTer12
NM_001136113.2:c.1793_1794insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	NP_001129585.1:p.Arg599LeufsTer12
NM_001136114.2:c.1442_1443insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	NP_001129586.1:p.Arg482LeufsTer12
NM_001353193.2:c.1859_1860insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	NP_001340122.2:p.Arg621LeufsTer12
NM_001353194.2:c.1631_1632insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	NP_001340123.1:p.Arg545LeufsTer12
NM_001353195.2:c.1442_1443insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	NP_001340124.1:p.Arg482LeufsTer12
NM_001353196.2:c.1703_1704insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	NP_001340125.1:p.Arg569LeufsTer12
NM_001353197.2:c.1697_1698insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	NP_001340126.2:p.Arg567LeufsTer12
NM_001353198.2:c.1697_1698insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	NP_001340127.2:p.Arg567LeufsTer12
NM_001353199.2:c.1508_1509insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	NP_001340128.2:p.Arg504LeufsTer12
NM_001353200.2:c.1337_1338insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	NP_001340129.1:p.Arg447LeufsTer12
NM_001374689.1:c.1781_1782insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	NP_001361618.1:p.Arg595LeufsTer12
NM_001374690.1:c.1574_1575insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	NP_001361619.1:p.Arg526LeufsTer12
NM_001374691.1:c.1442_1443insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	NP_001361620.1:p.Arg482LeufsTer12
NM_001374692.1:c.1442_1443insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	NP_001361621.1:p.Arg482LeufsTer12
NM_001374693.1:c.1442_1443insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	NP_001361622.1:p.Arg482LeufsTer12
NM_001374695.1:c.1403_1404insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	NP_001361624.1:p.Arg469LeufsTer12
NM_007171.4:c.1859_1860insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG	NP_009102.4:p.Arg621LeufsTer12
NR_148391.2:n.1827_1828insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG
NR_148392.2:n.2045_2046insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG
NR_148393.2:n.1966_1967insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG
NR_148394.2:n.1720_1721insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG
NR_148395.2:n.2118_2119insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG
NR_148396.2:n.1752_1753insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG
NR_148397.2:n.1877_1878insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG
NR_148398.2:n.1832_1833insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG
NR_148399.2:n.2358_2359insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG
NR_148400.2:n.1957_1958insGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTG