Canonical Allele Identifier: CA375314432

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134397521C>A (hg19) ; chr9:g.131522134C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522134C>A , CM000671.2:g.131522134C>A	GRCh38
NC_000009.11:g.134397521C>A , CM000671.1:g.134397521C>A	GRCh37
NC_000009.10:g.133387342C>A	NCBI36
NG_008896.1:g.24233C>A
NG_008896.2:g.24233C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1751C>A	ENSP00000343034.7:p.Thr584Lys
ENST00000404875.7:n.2453C>A
ENST00000423007.6:c.1970C>A	ENSP00000404119.2:p.Thr657Lys
ENST00000677295.2:c.*2257C>A	ENSP00000504346.2:n.*2257C>A
ENST00000678264.2:c.*2096C>A	ENSP00000503157.2:n.*2096C>A
ENST00000682070.1:n.2291-68C>A
ENST00000682813.1:n.2317C>A
ENST00000683392.1:n.4573-68C>A
ENST00000683712.1:n.2318C>A
ENST00000683900.1:n.3813C>A
ENST00000684062.1:n.2579C>A
ENST00000684579.1:n.3759C>A
ENST00000684679.1:n.1140C>A
ENST00000341012.12:c.1751C>A	ENSP00000343034.7:p.Thr584Lys
ENST00000372220.5:c.782C>A	ENSP00000361294.5:p.Thr261Lys
ENST00000372228.9:c.1979C>A	ENSP00000361302.3:p.Thr660Lys
ENST00000402686.8:c.1913C>A MANE Select	ENSP00000385797.4:p.Thr638Lys
ENST00000676640.1:c.1913C>A	ENSP00000503281.1:p.Thr638Lys
ENST00000676803.1:c.974C>A	ENSP00000503093.1:p.Thr325Lys
ENST00000676835.1:c.*1128C>A	ENSP00000502911.1:n.*1128C>A
ENST00000677029.1:c.1457C>A	ENSP00000502936.1:p.Thr486Lys
ENST00000677099.1:c.*1623C>A	ENSP00000504553.1:n.*1623C>A
ENST00000677216.1:c.1562C>A	ENSP00000503772.1:p.Thr521Lys
ENST00000677221.1:n.938C>A
ENST00000677295.1:c.*1203-68C>A	ENSP00000504346.1:n.*1203-68C>A
ENST00000677444.1:c.1858C>A
ENST00000677586.1:n.1280C>A
ENST00000677626.1:c.1562C>A	ENSP00000503552.1:p.Thr521Lys
ENST00000677853.1:c.*921C>A	ENSP00000503488.1:n.*921C>A
ENST00000678202.1:n.1072C>A
ENST00000678264.1:c.*1290C>A	ENSP00000503157.1:n.*1290C>A
ENST00000678303.1:c.1823C>A	ENSP00000503696.1:p.Thr608Lys
ENST00000678366.1:c.*2162C>A	ENSP00000504353.1:n.*2162C>A
ENST00000678546.1:c.*1858C>A	ENSP00000503062.1:n.*1858C>A
ENST00000678548.1:c.*2052C>A	ENSP00000503934.1:n.*2052C>A
ENST00000678626.1:n.1749C>A
ENST00000678739.1:c.*2147-68C>A	ENSP00000503806.1:n.*2147-68C>A
ENST00000678833.1:c.*1665C>A	ENSP00000503893.1:n.*1665C>A
ENST00000679023.1:c.1751C>A	ENSP00000503718.1:p.Thr584Lys
ENST00000679076.1:c.1532C>A
ENST00000679111.1:c.*669C>A	ENSP00000504257.1:n.*669C>A
ENST00000679189.1:c.1562C>A	ENSP00000503356.1:p.Thr521Lys
ENST00000341012.11:c.1751C>A	ENSP00000343034.7:p.Thr584Lys
ENST00000372220.4:c.776C>A	ENSP00000361294.4:p.Thr259Lys
ENST00000372228.7:c.1979C>A	ENSP00000361302.3:p.Thr660Lys
ENST00000402686.7:c.1913C>A	ENSP00000385797.3:p.Thr638Lys
ENST00000404875.6:c.1562C>A	ENSP00000384531.2:p.Thr521Lys
ENST00000423007.5:c.1913C>A	ENSP00000404119.1:p.Thr638Lys
ENST00000485278.5:n.2463C>A
ENST00000494883.1:n.456C>A
NM_001077365.1:c.1913C>A	NP_001070833.1:p.Thr638Lys
NM_001077366.1:c.1751C>A	NP_001070834.1:p.Thr584Lys
NM_001136113.1:c.1913C>A	NP_001129585.1:p.Thr638Lys
NM_001136114.1:c.1562C>A	NP_001129586.1:p.Thr521Lys
NM_007171.3:c.1979C>A	NP_009102.3:p.Thr660Lys
XM_005272156.1:c.1979C>A	XP_005272213.1:p.Thr660Lys
XM_005272158.1:c.1817C>A	XP_005272215.1:p.Thr606Lys
XM_005272159.1:c.1628C>A	XP_005272216.1:p.Thr543Lys
XM_005272162.1:c.782C>A	XP_005272219.1:p.Thr261Lys
XM_006716932.1:c.1628C>A	XP_006716995.1:p.Thr543Lys
XM_011518140.1:c.1832C>A	XP_011516442.1:p.Thr611Lys
XM_011518141.1:c.1766C>A	XP_011516443.1:p.Thr589Lys
XM_011518142.1:c.1670C>A	XP_011516444.1:p.Thr557Lys
XM_011518143.1:c.1664C>A	XP_011516445.1:p.Thr555Lys
XM_011518145.1:c.1523C>A	XP_011516447.1:p.Thr508Lys
XM_011518147.1:c.851C>A	XP_011516449.1:p.Thr284Lys
XR_929703.1:n.2155C>A
NM_001353193.1:c.1979C>A	NP_001340122.1:p.Thr660Lys
NM_001353194.1:c.1751C>A	NP_001340123.1:p.Thr584Lys
NM_001353195.1:c.1562C>A	NP_001340124.1:p.Thr521Lys
NM_001353196.1:c.1823C>A	NP_001340125.1:p.Thr608Lys
NM_001353197.1:c.1817C>A	NP_001340126.1:p.Thr606Lys
NM_001353198.1:c.1817C>A	NP_001340127.1:p.Thr606Lys
NM_001353199.1:c.1628C>A	NP_001340128.1:p.Thr543Lys
NM_001353200.1:c.1457C>A	NP_001340129.1:p.Thr486Lys
NR_148391.1:n.1963C>A
NR_148392.1:n.2181C>A
NR_148393.1:n.2102C>A
NR_148394.1:n.1856C>A
NR_148395.1:n.2254C>A
NR_148396.1:n.1888C>A
NR_148397.1:n.2013C>A
NR_148398.1:n.1968C>A
NR_148399.1:n.2494C>A
NR_148400.1:n.2093C>A
XM_005272162.3:c.782C>A	XP_005272219.1:p.Thr261Lys
XM_006716932.2:c.1628C>A	XP_006716995.1:p.Thr543Lys
XM_011518140.2:c.1832C>A	XP_011516442.1:p.Thr611Lys
XM_011518141.2:c.1766C>A	XP_011516443.1:p.Thr589Lys
XM_011518142.2:c.1670C>A	XP_011516444.1:p.Thr557Lys
XM_011518143.2:c.1664C>A	XP_011516445.1:p.Thr555Lys
XM_011518145.2:c.1523C>A	XP_011516447.1:p.Thr508Lys
XM_017014205.2:c.782C>A	XP_016869694.1:p.Thr261Lys
XM_024447380.1:c.782C>A	XP_024303148.1:p.Thr261Lys
XM_024447381.1:c.1088C>A	XP_024303149.1:p.Thr363Lys
XM_024447382.1:c.782C>A	XP_024303150.1:p.Thr261Lys
XR_001746160.2:n.2083C>A
XR_001746162.2:n.2288C>A
XR_001746164.1:n.2005C>A
XR_001746166.2:n.2300C>A
NM_001077365.2:c.1913C>A MANE Select	NP_001070833.1:p.Thr638Lys
NM_001077366.2:c.1751C>A	NP_001070834.1:p.Thr584Lys
NM_001136113.2:c.1913C>A	NP_001129585.1:p.Thr638Lys
NM_001136114.2:c.1562C>A	NP_001129586.1:p.Thr521Lys
NM_001353193.2:c.1979C>A	NP_001340122.2:p.Thr660Lys
NM_001353194.2:c.1751C>A	NP_001340123.1:p.Thr584Lys
NM_001353195.2:c.1562C>A	NP_001340124.1:p.Thr521Lys
NM_001353196.2:c.1823C>A	NP_001340125.1:p.Thr608Lys
NM_001353197.2:c.1817C>A	NP_001340126.2:p.Thr606Lys
NM_001353198.2:c.1817C>A	NP_001340127.2:p.Thr606Lys
NM_001353199.2:c.1628C>A	NP_001340128.2:p.Thr543Lys
NM_001353200.2:c.1457C>A	NP_001340129.1:p.Thr486Lys
NM_001374689.1:c.1901C>A	NP_001361618.1:p.Thr634Lys
NM_001374690.1:c.1694C>A	NP_001361619.1:p.Thr565Lys
NM_001374691.1:c.1562C>A	NP_001361620.1:p.Thr521Lys
NM_001374692.1:c.1562C>A	NP_001361621.1:p.Thr521Lys
NM_001374693.1:c.1562C>A	NP_001361622.1:p.Thr521Lys
NM_001374695.1:c.1523C>A	NP_001361624.1:p.Thr508Lys
NM_007171.4:c.1979C>A	NP_009102.4:p.Thr660Lys
NR_148391.2:n.1947C>A
NR_148392.2:n.2165C>A
NR_148393.2:n.2086C>A
NR_148394.2:n.1840C>A
NR_148395.2:n.2238C>A
NR_148396.2:n.1872C>A
NR_148397.2:n.1997C>A
NR_148398.2:n.1952C>A
NR_148399.2:n.2478C>A
NR_148400.2:n.2077C>A