Canonical Allele Identifier: CA467423869

Gene: POMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131521439C>A , CM000671.2:g.131521439C>A	GRCh38
NC_000009.11:g.134396826C>A , CM000671.1:g.134396826C>A	GRCh37
NC_000009.10:g.133386647C>A	NCBI36
NG_008896.1:g.23538C>A
NG_008896.2:g.23538C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1630C>A	ENSP00000343034.7:p.Arg544=
ENST00000404875.7:n.2332C>A
ENST00000423007.6:c.1849C>A	ENSP00000404119.2:p.Arg617=
ENST00000677295.2:c.*2136C>A	ENSP00000504346.2:n.*2136C>A
ENST00000678264.2:c.*1975C>A	ENSP00000503157.2:n.*1975C>A
ENST00000682070.1:n.2257C>A
ENST00000682813.1:n.2196C>A
ENST00000683392.1:n.4539C>A
ENST00000683712.1:n.2197C>A
ENST00000683900.1:n.3692C>A
ENST00000684062.1:n.2458C>A
ENST00000684579.1:n.3638C>A
ENST00000684679.1:n.1019C>A
ENST00000341012.12:c.1630C>A	ENSP00000343034.7:p.Arg544=
ENST00000372220.5:c.661C>A	ENSP00000361294.5:p.Arg221=
ENST00000372228.9:c.1858C>A	ENSP00000361302.3:p.Arg620=
ENST00000402686.8:c.1792C>A MANE Select	ENSP00000385797.4:p.Arg598=
ENST00000676640.1:c.1792C>A	ENSP00000503281.1:p.Arg598=
ENST00000676803.1:c.853C>A	ENSP00000503093.1:p.Arg285=
ENST00000676835.1:c.*1007C>A	ENSP00000502911.1:n.*1007C>A
ENST00000677029.1:c.1336C>A	ENSP00000502936.1:p.Arg446=
ENST00000677099.1:c.*1502C>A	ENSP00000504553.1:n.*1502C>A
ENST00000677216.1:c.1441C>A	ENSP00000503772.1:p.Arg481=
ENST00000677221.1:n.817C>A
ENST00000677295.1:c.*1169C>A	ENSP00000504346.1:n.*1169C>A
ENST00000677444.1:c.1737C>A
ENST00000677586.1:n.1159C>A
ENST00000677626.1:c.1441C>A	ENSP00000503552.1:p.Arg481=
ENST00000677853.1:c.*800C>A	ENSP00000503488.1:n.*800C>A
ENST00000678202.1:n.951C>A
ENST00000678264.1:c.*1169C>A	ENSP00000503157.1:n.*1169C>A
ENST00000678303.1:c.1702C>A	ENSP00000503696.1:p.Arg568=
ENST00000678366.1:c.*2041C>A	ENSP00000504353.1:n.*2041C>A
ENST00000678546.1:c.*1737C>A	ENSP00000503062.1:n.*1737C>A
ENST00000678548.1:c.*1864C>A	ENSP00000503934.1:n.*1864C>A
ENST00000678626.1:n.1628C>A
ENST00000678739.1:c.*2113C>A	ENSP00000503806.1:n.*2113C>A
ENST00000678833.1:c.*1544C>A	ENSP00000503893.1:n.*1544C>A
ENST00000679023.1:c.1630C>A	ENSP00000503718.1:p.Arg544=
ENST00000679076.1:c.1411C>A
ENST00000679111.1:c.*548C>A	ENSP00000504257.1:n.*548C>A
ENST00000679189.1:c.1441C>A	ENSP00000503356.1:p.Arg481=
ENST00000341012.11:c.1630C>A	ENSP00000343034.7:p.Arg544=
ENST00000372220.4:c.655C>A	ENSP00000361294.4:p.Arg219=
ENST00000372228.7:c.1858C>A	ENSP00000361302.3:p.Arg620=
ENST00000402686.7:c.1792C>A	ENSP00000385797.3:p.Arg598=
ENST00000404875.6:c.1441C>A	ENSP00000384531.2:p.Arg481=
ENST00000423007.5:c.1792C>A	ENSP00000404119.1:p.Arg598=
ENST00000485278.5:n.2342C>A
ENST00000494883.1:n.335C>A
NM_001077365.1:c.1792C>A	NP_001070833.1:p.Arg598=
NM_001077366.1:c.1630C>A	NP_001070834.1:p.Arg544=
NM_001136113.1:c.1792C>A	NP_001129585.1:p.Arg598=
NM_001136114.1:c.1441C>A	NP_001129586.1:p.Arg481=
NM_007171.3:c.1858C>A	NP_009102.3:p.Arg620=
XM_005272156.1:c.1858C>A	XP_005272213.1:p.Arg620=
XM_005272158.1:c.1696C>A	XP_005272215.1:p.Arg566=
XM_005272159.1:c.1507C>A	XP_005272216.1:p.Arg503=
XM_005272162.1:c.661C>A	XP_005272219.1:p.Arg221=
XM_006716932.1:c.1507C>A	XP_006716995.1:p.Arg503=
XM_011518140.1:c.1711C>A	XP_011516442.1:p.Arg571=
XM_011518141.1:c.1645C>A	XP_011516443.1:p.Arg549=
XM_011518142.1:c.1549C>A	XP_011516444.1:p.Arg517=
XM_011518143.1:c.1543C>A	XP_011516445.1:p.Arg515=
XM_011518145.1:c.1402C>A	XP_011516447.1:p.Arg468=
XM_011518147.1:c.730C>A	XP_011516449.1:p.Arg244=
XR_929703.1:n.2034C>A
NM_001353193.1:c.1858C>A	NP_001340122.1:p.Arg620=
NM_001353194.1:c.1630C>A	NP_001340123.1:p.Arg544=
NM_001353195.1:c.1441C>A	NP_001340124.1:p.Arg481=
NM_001353196.1:c.1702C>A	NP_001340125.1:p.Arg568=
NM_001353197.1:c.1696C>A	NP_001340126.1:p.Arg566=
NM_001353198.1:c.1696C>A	NP_001340127.1:p.Arg566=
NM_001353199.1:c.1507C>A	NP_001340128.1:p.Arg503=
NM_001353200.1:c.1336C>A	NP_001340129.1:p.Arg446=
NR_148391.1:n.1842C>A
NR_148392.1:n.2060C>A
NR_148393.1:n.1981C>A
NR_148394.1:n.1735C>A
NR_148395.1:n.2133C>A
NR_148396.1:n.1767C>A
NR_148397.1:n.1892C>A
NR_148398.1:n.1847C>A
NR_148399.1:n.2373C>A
NR_148400.1:n.1972C>A
XM_005272162.3:c.661C>A	XP_005272219.1:p.Arg221=
XM_006716932.2:c.1507C>A	XP_006716995.1:p.Arg503=
XM_011518140.2:c.1711C>A	XP_011516442.1:p.Arg571=
XM_011518141.2:c.1645C>A	XP_011516443.1:p.Arg549=
XM_011518142.2:c.1549C>A	XP_011516444.1:p.Arg517=
XM_011518143.2:c.1543C>A	XP_011516445.1:p.Arg515=
XM_011518145.2:c.1402C>A	XP_011516447.1:p.Arg468=
XM_017014205.2:c.661C>A	XP_016869694.1:p.Arg221=
XM_024447380.1:c.661C>A	XP_024303148.1:p.Arg221=
XM_024447381.1:c.967C>A	XP_024303149.1:p.Arg323=
XM_024447382.1:c.661C>A	XP_024303150.1:p.Arg221=
XR_001746160.2:n.1962C>A
XR_001746162.2:n.2167C>A
XR_001746164.1:n.1884C>A
XR_001746166.2:n.2179C>A
NM_001077365.2:c.1792C>A MANE Select	NP_001070833.1:p.Arg598=
NM_001077366.2:c.1630C>A	NP_001070834.1:p.Arg544=
NM_001136113.2:c.1792C>A	NP_001129585.1:p.Arg598=
NM_001136114.2:c.1441C>A	NP_001129586.1:p.Arg481=
NM_001353193.2:c.1858C>A	NP_001340122.2:p.Arg620=
NM_001353194.2:c.1630C>A	NP_001340123.1:p.Arg544=
NM_001353195.2:c.1441C>A	NP_001340124.1:p.Arg481=
NM_001353196.2:c.1702C>A	NP_001340125.1:p.Arg568=
NM_001353197.2:c.1696C>A	NP_001340126.2:p.Arg566=
NM_001353198.2:c.1696C>A	NP_001340127.2:p.Arg566=
NM_001353199.2:c.1507C>A	NP_001340128.2:p.Arg503=
NM_001353200.2:c.1336C>A	NP_001340129.1:p.Arg446=
NM_001374689.1:c.1780C>A	NP_001361618.1:p.Arg594=
NM_001374690.1:c.1573C>A	NP_001361619.1:p.Arg525=
NM_001374691.1:c.1441C>A	NP_001361620.1:p.Arg481=
NM_001374692.1:c.1441C>A	NP_001361621.1:p.Arg481=
NM_001374693.1:c.1441C>A	NP_001361622.1:p.Arg481=
NM_001374695.1:c.1402C>A	NP_001361624.1:p.Arg468=
NM_007171.4:c.1858C>A	NP_009102.4:p.Arg620=
NR_148391.2:n.1826C>A
NR_148392.2:n.2044C>A
NR_148393.2:n.1965C>A
NR_148394.2:n.1719C>A
NR_148395.2:n.2117C>A
NR_148396.2:n.1751C>A
NR_148397.2:n.1876C>A
NR_148398.2:n.1831C>A
NR_148399.2:n.2357C>A
NR_148400.2:n.1956C>A