Canonical Allele Identifier: CA375314217

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134397466C>G (hg19) ; chr9:g.131522079C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522079C>G , CM000671.2:g.131522079C>G	GRCh38
NC_000009.11:g.134397466C>G , CM000671.1:g.134397466C>G	GRCh37
NC_000009.10:g.133387287C>G	NCBI36
NG_008896.1:g.24178C>G
NG_008896.2:g.24178C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.1696C>G	ENSP00000343034.7:p.Leu566Val
ENST00000404875.7:n.2398C>G
ENST00000423007.6:c.1915C>G	ENSP00000404119.2:p.Leu639Val
ENST00000677295.2:c.*2202C>G	ENSP00000504346.2:n.*2202C>G
ENST00000678264.2:c.*2041C>G	ENSP00000503157.2:n.*2041C>G
ENST00000682070.1:n.2291-123C>G
ENST00000682813.1:n.2262C>G
ENST00000683392.1:n.4573-123C>G
ENST00000683712.1:n.2263C>G
ENST00000683900.1:n.3758C>G
ENST00000684062.1:n.2524C>G
ENST00000684579.1:n.3704C>G
ENST00000684679.1:n.1085C>G
ENST00000341012.12:c.1696C>G	ENSP00000343034.7:p.Leu566Val
ENST00000372220.5:c.727C>G	ENSP00000361294.5:p.Leu243Val
ENST00000372228.9:c.1924C>G	ENSP00000361302.3:p.Leu642Val
ENST00000402686.8:c.1858C>G MANE Select	ENSP00000385797.4:p.Leu620Val
ENST00000676640.1:c.1858C>G	ENSP00000503281.1:p.Leu620Val
ENST00000676803.1:c.919C>G	ENSP00000503093.1:p.Leu307Val
ENST00000676835.1:c.*1073C>G	ENSP00000502911.1:n.*1073C>G
ENST00000677029.1:c.1402C>G	ENSP00000502936.1:p.Leu468Val
ENST00000677099.1:c.*1568C>G	ENSP00000504553.1:n.*1568C>G
ENST00000677216.1:c.1507C>G	ENSP00000503772.1:p.Leu503Val
ENST00000677221.1:n.883C>G
ENST00000677295.1:c.*1203-123C>G	ENSP00000504346.1:n.*1203-123C>G
ENST00000677444.1:c.1803C>G
ENST00000677586.1:n.1225C>G
ENST00000677626.1:c.1507C>G	ENSP00000503552.1:p.Leu503Val
ENST00000677853.1:c.*866C>G	ENSP00000503488.1:n.*866C>G
ENST00000678202.1:n.1017C>G
ENST00000678264.1:c.*1235C>G	ENSP00000503157.1:n.*1235C>G
ENST00000678303.1:c.1768C>G	ENSP00000503696.1:p.Leu590Val
ENST00000678366.1:c.*2107C>G	ENSP00000504353.1:n.*2107C>G
ENST00000678546.1:c.*1803C>G	ENSP00000503062.1:n.*1803C>G
ENST00000678548.1:c.*1997C>G	ENSP00000503934.1:n.*1997C>G
ENST00000678626.1:n.1694C>G
ENST00000678739.1:c.*2147-123C>G	ENSP00000503806.1:n.*2147-123C>G
ENST00000678833.1:c.*1610C>G	ENSP00000503893.1:n.*1610C>G
ENST00000679023.1:c.1696C>G	ENSP00000503718.1:p.Leu566Val
ENST00000679076.1:c.1477C>G
ENST00000679111.1:c.*614C>G	ENSP00000504257.1:n.*614C>G
ENST00000679189.1:c.1507C>G	ENSP00000503356.1:p.Leu503Val
ENST00000341012.11:c.1696C>G	ENSP00000343034.7:p.Leu566Val
ENST00000372220.4:c.721C>G	ENSP00000361294.4:p.Leu241Val
ENST00000372228.7:c.1924C>G	ENSP00000361302.3:p.Leu642Val
ENST00000402686.7:c.1858C>G	ENSP00000385797.3:p.Leu620Val
ENST00000404875.6:c.1507C>G	ENSP00000384531.2:p.Leu503Val
ENST00000423007.5:c.1858C>G	ENSP00000404119.1:p.Leu620Val
ENST00000485278.5:n.2408C>G
ENST00000494883.1:n.401C>G
NM_001077365.1:c.1858C>G	NP_001070833.1:p.Leu620Val
NM_001077366.1:c.1696C>G	NP_001070834.1:p.Leu566Val
NM_001136113.1:c.1858C>G	NP_001129585.1:p.Leu620Val
NM_001136114.1:c.1507C>G	NP_001129586.1:p.Leu503Val
NM_007171.3:c.1924C>G	NP_009102.3:p.Leu642Val
XM_005272156.1:c.1924C>G	XP_005272213.1:p.Leu642Val
XM_005272158.1:c.1762C>G	XP_005272215.1:p.Leu588Val
XM_005272159.1:c.1573C>G	XP_005272216.1:p.Leu525Val
XM_005272162.1:c.727C>G	XP_005272219.1:p.Leu243Val
XM_006716932.1:c.1573C>G	XP_006716995.1:p.Leu525Val
XM_011518140.1:c.1777C>G	XP_011516442.1:p.Leu593Val
XM_011518141.1:c.1711C>G	XP_011516443.1:p.Leu571Val
XM_011518142.1:c.1615C>G	XP_011516444.1:p.Leu539Val
XM_011518143.1:c.1609C>G	XP_011516445.1:p.Leu537Val
XM_011518145.1:c.1468C>G	XP_011516447.1:p.Leu490Val
XM_011518147.1:c.796C>G	XP_011516449.1:p.Leu266Val
XR_929703.1:n.2100C>G
NM_001353193.1:c.1924C>G	NP_001340122.1:p.Leu642Val
NM_001353194.1:c.1696C>G	NP_001340123.1:p.Leu566Val
NM_001353195.1:c.1507C>G	NP_001340124.1:p.Leu503Val
NM_001353196.1:c.1768C>G	NP_001340125.1:p.Leu590Val
NM_001353197.1:c.1762C>G	NP_001340126.1:p.Leu588Val
NM_001353198.1:c.1762C>G	NP_001340127.1:p.Leu588Val
NM_001353199.1:c.1573C>G	NP_001340128.1:p.Leu525Val
NM_001353200.1:c.1402C>G	NP_001340129.1:p.Leu468Val
NR_148391.1:n.1908C>G
NR_148392.1:n.2126C>G
NR_148393.1:n.2047C>G
NR_148394.1:n.1801C>G
NR_148395.1:n.2199C>G
NR_148396.1:n.1833C>G
NR_148397.1:n.1958C>G
NR_148398.1:n.1913C>G
NR_148399.1:n.2439C>G
NR_148400.1:n.2038C>G
XM_005272162.3:c.727C>G	XP_005272219.1:p.Leu243Val
XM_006716932.2:c.1573C>G	XP_006716995.1:p.Leu525Val
XM_011518140.2:c.1777C>G	XP_011516442.1:p.Leu593Val
XM_011518141.2:c.1711C>G	XP_011516443.1:p.Leu571Val
XM_011518142.2:c.1615C>G	XP_011516444.1:p.Leu539Val
XM_011518143.2:c.1609C>G	XP_011516445.1:p.Leu537Val
XM_011518145.2:c.1468C>G	XP_011516447.1:p.Leu490Val
XM_017014205.2:c.727C>G	XP_016869694.1:p.Leu243Val
XM_024447380.1:c.727C>G	XP_024303148.1:p.Leu243Val
XM_024447381.1:c.1033C>G	XP_024303149.1:p.Leu345Val
XM_024447382.1:c.727C>G	XP_024303150.1:p.Leu243Val
XR_001746160.2:n.2028C>G
XR_001746162.2:n.2233C>G
XR_001746164.1:n.1950C>G
XR_001746166.2:n.2245C>G
NM_001077365.2:c.1858C>G MANE Select	NP_001070833.1:p.Leu620Val
NM_001077366.2:c.1696C>G	NP_001070834.1:p.Leu566Val
NM_001136113.2:c.1858C>G	NP_001129585.1:p.Leu620Val
NM_001136114.2:c.1507C>G	NP_001129586.1:p.Leu503Val
NM_001353193.2:c.1924C>G	NP_001340122.2:p.Leu642Val
NM_001353194.2:c.1696C>G	NP_001340123.1:p.Leu566Val
NM_001353195.2:c.1507C>G	NP_001340124.1:p.Leu503Val
NM_001353196.2:c.1768C>G	NP_001340125.1:p.Leu590Val
NM_001353197.2:c.1762C>G	NP_001340126.2:p.Leu588Val
NM_001353198.2:c.1762C>G	NP_001340127.2:p.Leu588Val
NM_001353199.2:c.1573C>G	NP_001340128.2:p.Leu525Val
NM_001353200.2:c.1402C>G	NP_001340129.1:p.Leu468Val
NM_001374689.1:c.1846C>G	NP_001361618.1:p.Leu616Val
NM_001374690.1:c.1639C>G	NP_001361619.1:p.Leu547Val
NM_001374691.1:c.1507C>G	NP_001361620.1:p.Leu503Val
NM_001374692.1:c.1507C>G	NP_001361621.1:p.Leu503Val
NM_001374693.1:c.1507C>G	NP_001361622.1:p.Leu503Val
NM_001374695.1:c.1468C>G	NP_001361624.1:p.Leu490Val
NM_007171.4:c.1924C>G	NP_009102.4:p.Leu642Val
NR_148391.2:n.1892C>G
NR_148392.2:n.2110C>G
NR_148393.2:n.2031C>G
NR_148394.2:n.1785C>G
NR_148395.2:n.2183C>G
NR_148396.2:n.1817C>G
NR_148397.2:n.1942C>G
NR_148398.2:n.1897C>G
NR_148399.2:n.2423C>G
NR_148400.2:n.2022C>G