Canonical Allele Identifier: CA375314613

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134397569T>A (hg19) ; chr9:g.131522182T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522182T>A , CM000671.2:g.131522182T>A	GRCh38
NC_000009.11:g.134397569T>A , CM000671.1:g.134397569T>A	GRCh37
NC_000009.10:g.133387390T>A	NCBI36
NG_008896.1:g.24281T>A
NG_008896.2:g.24281T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1799T>A	ENSP00000343034.7:p.Leu600Gln
ENST00000404875.7:n.2501T>A
ENST00000423007.6:c.2018T>A	ENSP00000404119.2:p.Leu673Gln
ENST00000677295.2:c.*2305T>A	ENSP00000504346.2:n.*2305T>A
ENST00000678264.2:c.*2144T>A	ENSP00000503157.2:n.*2144T>A
ENST00000682070.1:n.2291-20T>A
ENST00000682813.1:n.2365T>A
ENST00000683392.1:n.4573-20T>A
ENST00000683712.1:n.2366T>A
ENST00000683900.1:n.3861T>A
ENST00000684062.1:n.2627T>A
ENST00000684579.1:n.3807T>A
ENST00000684679.1:n.1188T>A
ENST00000341012.12:c.1799T>A	ENSP00000343034.7:p.Leu600Gln
ENST00000372220.5:c.830T>A	ENSP00000361294.5:p.Leu277Gln
ENST00000372228.9:c.2027T>A	ENSP00000361302.3:p.Leu676Gln
ENST00000402686.8:c.1961T>A MANE Select	ENSP00000385797.4:p.Leu654Gln
ENST00000676640.1:c.1961T>A	ENSP00000503281.1:p.Leu654Gln
ENST00000676803.1:c.1022T>A	ENSP00000503093.1:p.Leu341Gln
ENST00000676835.1:c.*1176T>A	ENSP00000502911.1:n.*1176T>A
ENST00000677029.1:c.1505T>A	ENSP00000502936.1:p.Leu502Gln
ENST00000677099.1:c.*1671T>A	ENSP00000504553.1:n.*1671T>A
ENST00000677216.1:c.1610T>A	ENSP00000503772.1:p.Leu537Gln
ENST00000677221.1:n.986T>A
ENST00000677295.1:c.*1203-20T>A	ENSP00000504346.1:n.*1203-20T>A
ENST00000677444.1:c.1906T>A
ENST00000677586.1:n.1328T>A
ENST00000677626.1:c.1610T>A	ENSP00000503552.1:p.Leu537Gln
ENST00000677853.1:c.*969T>A	ENSP00000503488.1:n.*969T>A
ENST00000678202.1:n.1120T>A
ENST00000678264.1:c.*1338T>A	ENSP00000503157.1:n.*1338T>A
ENST00000678303.1:c.1871T>A	ENSP00000503696.1:p.Leu624Gln
ENST00000678366.1:c.*2210T>A	ENSP00000504353.1:n.*2210T>A
ENST00000678546.1:c.*1906T>A	ENSP00000503062.1:n.*1906T>A
ENST00000678548.1:c.*2100T>A	ENSP00000503934.1:n.*2100T>A
ENST00000678626.1:n.1797T>A
ENST00000678739.1:c.*2147-20T>A	ENSP00000503806.1:n.*2147-20T>A
ENST00000678833.1:c.*1713T>A	ENSP00000503893.1:n.*1713T>A
ENST00000679023.1:c.1799T>A	ENSP00000503718.1:p.Leu600Gln
ENST00000679076.1:c.1580T>A
ENST00000679111.1:c.*717T>A	ENSP00000504257.1:n.*717T>A
ENST00000679189.1:c.1610T>A	ENSP00000503356.1:p.Leu537Gln
ENST00000341012.11:c.1799T>A	ENSP00000343034.7:p.Leu600Gln
ENST00000372220.4:c.824T>A	ENSP00000361294.4:p.Leu275Gln
ENST00000372228.7:c.2027T>A	ENSP00000361302.3:p.Leu676Gln
ENST00000402686.7:c.1961T>A	ENSP00000385797.3:p.Leu654Gln
ENST00000404875.6:c.1610T>A	ENSP00000384531.2:p.Leu537Gln
ENST00000423007.5:c.1961T>A	ENSP00000404119.1:p.Leu654Gln
ENST00000485278.5:n.2511T>A
ENST00000494883.1:n.504T>A
NM_001077365.1:c.1961T>A	NP_001070833.1:p.Leu654Gln
NM_001077366.1:c.1799T>A	NP_001070834.1:p.Leu600Gln
NM_001136113.1:c.1961T>A	NP_001129585.1:p.Leu654Gln
NM_001136114.1:c.1610T>A	NP_001129586.1:p.Leu537Gln
NM_007171.3:c.2027T>A	NP_009102.3:p.Leu676Gln
XM_005272156.1:c.2027T>A	XP_005272213.1:p.Leu676Gln
XM_005272158.1:c.1865T>A	XP_005272215.1:p.Leu622Gln
XM_005272159.1:c.1676T>A	XP_005272216.1:p.Leu559Gln
XM_005272162.1:c.830T>A	XP_005272219.1:p.Leu277Gln
XM_006716932.1:c.1676T>A	XP_006716995.1:p.Leu559Gln
XM_011518140.1:c.1880T>A	XP_011516442.1:p.Leu627Gln
XM_011518141.1:c.1814T>A	XP_011516443.1:p.Leu605Gln
XM_011518142.1:c.1718T>A	XP_011516444.1:p.Leu573Gln
XM_011518143.1:c.1712T>A	XP_011516445.1:p.Leu571Gln
XM_011518145.1:c.1571T>A	XP_011516447.1:p.Leu524Gln
XM_011518147.1:c.899T>A	XP_011516449.1:p.Leu300Gln
XR_929703.1:n.2203T>A
NM_001353193.1:c.2027T>A	NP_001340122.1:p.Leu676Gln
NM_001353194.1:c.1799T>A	NP_001340123.1:p.Leu600Gln
NM_001353195.1:c.1610T>A	NP_001340124.1:p.Leu537Gln
NM_001353196.1:c.1871T>A	NP_001340125.1:p.Leu624Gln
NM_001353197.1:c.1865T>A	NP_001340126.1:p.Leu622Gln
NM_001353198.1:c.1865T>A	NP_001340127.1:p.Leu622Gln
NM_001353199.1:c.1676T>A	NP_001340128.1:p.Leu559Gln
NM_001353200.1:c.1505T>A	NP_001340129.1:p.Leu502Gln
NR_148391.1:n.2011T>A
NR_148392.1:n.2229T>A
NR_148393.1:n.2150T>A
NR_148394.1:n.1904T>A
NR_148395.1:n.2302T>A
NR_148396.1:n.1936T>A
NR_148397.1:n.2061T>A
NR_148398.1:n.2016T>A
NR_148399.1:n.2542T>A
NR_148400.1:n.2141T>A
XM_005272162.3:c.830T>A	XP_005272219.1:p.Leu277Gln
XM_006716932.2:c.1676T>A	XP_006716995.1:p.Leu559Gln
XM_011518140.2:c.1880T>A	XP_011516442.1:p.Leu627Gln
XM_011518141.2:c.1814T>A	XP_011516443.1:p.Leu605Gln
XM_011518142.2:c.1718T>A	XP_011516444.1:p.Leu573Gln
XM_011518143.2:c.1712T>A	XP_011516445.1:p.Leu571Gln
XM_011518145.2:c.1571T>A	XP_011516447.1:p.Leu524Gln
XM_017014205.2:c.830T>A	XP_016869694.1:p.Leu277Gln
XM_024447380.1:c.830T>A	XP_024303148.1:p.Leu277Gln
XM_024447381.1:c.1136T>A	XP_024303149.1:p.Leu379Gln
XM_024447382.1:c.830T>A	XP_024303150.1:p.Leu277Gln
XR_001746160.2:n.2131T>A
XR_001746162.2:n.2336T>A
XR_001746164.1:n.2053T>A
XR_001746166.2:n.2348T>A
NM_001077365.2:c.1961T>A MANE Select	NP_001070833.1:p.Leu654Gln
NM_001077366.2:c.1799T>A	NP_001070834.1:p.Leu600Gln
NM_001136113.2:c.1961T>A	NP_001129585.1:p.Leu654Gln
NM_001136114.2:c.1610T>A	NP_001129586.1:p.Leu537Gln
NM_001353193.2:c.2027T>A	NP_001340122.2:p.Leu676Gln
NM_001353194.2:c.1799T>A	NP_001340123.1:p.Leu600Gln
NM_001353195.2:c.1610T>A	NP_001340124.1:p.Leu537Gln
NM_001353196.2:c.1871T>A	NP_001340125.1:p.Leu624Gln
NM_001353197.2:c.1865T>A	NP_001340126.2:p.Leu622Gln
NM_001353198.2:c.1865T>A	NP_001340127.2:p.Leu622Gln
NM_001353199.2:c.1676T>A	NP_001340128.2:p.Leu559Gln
NM_001353200.2:c.1505T>A	NP_001340129.1:p.Leu502Gln
NM_001374689.1:c.1949T>A	NP_001361618.1:p.Leu650Gln
NM_001374690.1:c.1742T>A	NP_001361619.1:p.Leu581Gln
NM_001374691.1:c.1610T>A	NP_001361620.1:p.Leu537Gln
NM_001374692.1:c.1610T>A	NP_001361621.1:p.Leu537Gln
NM_001374693.1:c.1610T>A	NP_001361622.1:p.Leu537Gln
NM_001374695.1:c.1571T>A	NP_001361624.1:p.Leu524Gln
NM_007171.4:c.2027T>A	NP_009102.4:p.Leu676Gln
NR_148391.2:n.1995T>A
NR_148392.2:n.2213T>A
NR_148393.2:n.2134T>A
NR_148394.2:n.1888T>A
NR_148395.2:n.2286T>A
NR_148396.2:n.1920T>A
NR_148397.2:n.2045T>A
NR_148398.2:n.2000T>A
NR_148399.2:n.2526T>A
NR_148400.2:n.2125T>A