Canonical Allele Identifier: CA467424143

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134398328C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522941C>T , CM000671.2:g.131522941C>T	GRCh38
NC_000009.11:g.134398328C>T , CM000671.1:g.134398328C>T	GRCh37
NC_000009.10:g.133388149C>T	NCBI36
NG_008896.1:g.25040C>T
NG_008896.2:g.25040C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1851C>T	ENSP00000343034.7:p.Leu617=
ENST00000404875.7:n.2553C>T
ENST00000423007.6:c.2070C>T	ENSP00000404119.2:p.Leu690=
ENST00000677295.2:c.*2357C>T	ENSP00000504346.2:n.*2357C>T
ENST00000678264.2:c.*2196C>T	ENSP00000503157.2:n.*2196C>T
ENST00000682070.1:n.2323C>T
ENST00000682639.1:c.10C>T
ENST00000682813.1:n.2410C>T
ENST00000683231.1:c.10C>T
ENST00000683392.1:n.4605C>T
ENST00000683712.1:n.2418C>T
ENST00000683900.1:n.3913C>T
ENST00000684062.1:n.2679C>T
ENST00000684399.1:c.10C>T
ENST00000684579.1:n.3859C>T
ENST00000341012.12:c.1851C>T	ENSP00000343034.7:p.Leu617=
ENST00000372220.5:c.882C>T	ENSP00000361294.5:p.Leu294=
ENST00000372228.9:c.2079C>T	ENSP00000361302.3:p.Leu693=
ENST00000402686.8:c.2013C>T MANE Select	ENSP00000385797.4:p.Leu671=
ENST00000676640.1:c.2013C>T	ENSP00000503281.1:p.Leu671=
ENST00000676803.1:c.1074C>T	ENSP00000503093.1:p.Leu358=
ENST00000676835.1:c.*1228C>T	ENSP00000502911.1:n.*1228C>T
ENST00000677029.1:c.1557C>T	ENSP00000502936.1:p.Leu519=
ENST00000677099.1:c.*1723C>T	ENSP00000504553.1:n.*1723C>T
ENST00000677216.1:c.1662C>T	ENSP00000503772.1:p.Leu554=
ENST00000677221.1:n.1038C>T
ENST00000677295.1:c.*1235C>T	ENSP00000504346.1:n.*1235C>T
ENST00000677444.1:c.1958C>T
ENST00000677586.1:n.1380C>T
ENST00000677626.1:c.1662C>T	ENSP00000503552.1:p.Leu554=
ENST00000677853.1:c.*1021C>T	ENSP00000503488.1:n.*1021C>T
ENST00000678264.1:c.*1390C>T	ENSP00000503157.1:n.*1390C>T
ENST00000678303.1:c.1923C>T	ENSP00000503696.1:p.Leu641=
ENST00000678366.1:c.*2262C>T	ENSP00000504353.1:n.*2262C>T
ENST00000678546.1:c.*1958C>T	ENSP00000503062.1:n.*1958C>T
ENST00000678548.1:c.*2152C>T	ENSP00000503934.1:n.*2152C>T
ENST00000678626.1:n.1849C>T
ENST00000678739.1:c.*2179C>T	ENSP00000503806.1:n.*2179C>T
ENST00000678833.1:c.*1765C>T	ENSP00000503893.1:n.*1765C>T
ENST00000679023.1:c.1851C>T	ENSP00000503718.1:p.Leu617=
ENST00000679076.1:c.1632C>T
ENST00000679111.1:c.*769C>T	ENSP00000504257.1:n.*769C>T
ENST00000679189.1:c.1662C>T	ENSP00000503356.1:p.Leu554=
ENST00000341012.11:c.1851C>T	ENSP00000343034.7:p.Leu617=
ENST00000372220.4:c.876C>T	ENSP00000361294.4:p.Leu292=
ENST00000372228.7:c.2079C>T	ENSP00000361302.3:p.Leu693=
ENST00000402686.7:c.2013C>T	ENSP00000385797.3:p.Leu671=
ENST00000404875.6:c.1662C>T	ENSP00000384531.2:p.Leu554=
ENST00000423007.5:c.2013C>T	ENSP00000404119.1:p.Leu671=
ENST00000485278.5:n.2563C>T
NM_001077365.1:c.2013C>T	NP_001070833.1:p.Leu671=
NM_001077366.1:c.1851C>T	NP_001070834.1:p.Leu617=
NM_001136113.1:c.2013C>T	NP_001129585.1:p.Leu671=
NM_001136114.1:c.1662C>T	NP_001129586.1:p.Leu554=
NM_007171.3:c.2079C>T	NP_009102.3:p.Leu693=
XM_005272156.1:c.2079C>T	XP_005272213.1:p.Leu693=
XM_005272158.1:c.1917C>T	XP_005272215.1:p.Leu639=
XM_005272159.1:c.1728C>T	XP_005272216.1:p.Leu576=
XM_005272162.1:c.882C>T	XP_005272219.1:p.Leu294=
XM_006716932.1:c.1728C>T	XP_006716995.1:p.Leu576=
XM_011518140.1:c.1932C>T	XP_011516442.1:p.Leu644=
XM_011518141.1:c.1866C>T	XP_011516443.1:p.Leu622=
XM_011518142.1:c.1770C>T	XP_011516444.1:p.Leu590=
XM_011518143.1:c.1764C>T	XP_011516445.1:p.Leu588=
XM_011518145.1:c.1623C>T	XP_011516447.1:p.Leu541=
XM_011518147.1:c.951C>T	XP_011516449.1:p.Leu317=
XR_929703.1:n.2255C>T
NM_001353193.1:c.2079C>T	NP_001340122.1:p.Leu693=
NM_001353194.1:c.1851C>T	NP_001340123.1:p.Leu617=
NM_001353195.1:c.1662C>T	NP_001340124.1:p.Leu554=
NM_001353196.1:c.1923C>T	NP_001340125.1:p.Leu641=
NM_001353197.1:c.1917C>T	NP_001340126.1:p.Leu639=
NM_001353198.1:c.1917C>T	NP_001340127.1:p.Leu639=
NM_001353199.1:c.1728C>T	NP_001340128.1:p.Leu576=
NM_001353200.1:c.1557C>T	NP_001340129.1:p.Leu519=
NR_148391.1:n.2063C>T
NR_148392.1:n.2281C>T
NR_148393.1:n.2202C>T
NR_148394.1:n.1956C>T
NR_148395.1:n.2354C>T
NR_148396.1:n.1988C>T
NR_148397.1:n.2113C>T
NR_148398.1:n.2068C>T
NR_148399.1:n.2594C>T
NR_148400.1:n.2193C>T
XM_005272162.3:c.882C>T	XP_005272219.1:p.Leu294=
XM_006716932.2:c.1728C>T	XP_006716995.1:p.Leu576=
XM_011518140.2:c.1932C>T	XP_011516442.1:p.Leu644=
XM_011518141.2:c.1866C>T	XP_011516443.1:p.Leu622=
XM_011518142.2:c.1770C>T	XP_011516444.1:p.Leu590=
XM_011518143.2:c.1764C>T	XP_011516445.1:p.Leu588=
XM_011518145.2:c.1623C>T	XP_011516447.1:p.Leu541=
XM_017014205.2:c.882C>T	XP_016869694.1:p.Leu294=
XM_024447380.1:c.882C>T	XP_024303148.1:p.Leu294=
XM_024447381.1:c.1188C>T	XP_024303149.1:p.Leu396=
XM_024447382.1:c.882C>T	XP_024303150.1:p.Leu294=
XR_001746160.2:n.2183C>T
XR_001746162.2:n.2388C>T
XR_001746164.1:n.2105C>T
XR_001746166.2:n.2400C>T
NM_001077365.2:c.2013C>T MANE Select	NP_001070833.1:p.Leu671=
NM_001077366.2:c.1851C>T	NP_001070834.1:p.Leu617=
NM_001136113.2:c.2013C>T	NP_001129585.1:p.Leu671=
NM_001136114.2:c.1662C>T	NP_001129586.1:p.Leu554=
NM_001353193.2:c.2079C>T	NP_001340122.2:p.Leu693=
NM_001353194.2:c.1851C>T	NP_001340123.1:p.Leu617=
NM_001353195.2:c.1662C>T	NP_001340124.1:p.Leu554=
NM_001353196.2:c.1923C>T	NP_001340125.1:p.Leu641=
NM_001353197.2:c.1917C>T	NP_001340126.2:p.Leu639=
NM_001353198.2:c.1917C>T	NP_001340127.2:p.Leu639=
NM_001353199.2:c.1728C>T	NP_001340128.2:p.Leu576=
NM_001353200.2:c.1557C>T	NP_001340129.1:p.Leu519=
NM_001374689.1:c.2001C>T	NP_001361618.1:p.Leu667=
NM_001374690.1:c.1794C>T	NP_001361619.1:p.Leu598=
NM_001374691.1:c.1662C>T	NP_001361620.1:p.Leu554=
NM_001374692.1:c.1662C>T	NP_001361621.1:p.Leu554=
NM_001374693.1:c.1662C>T	NP_001361622.1:p.Leu554=
NM_001374695.1:c.1623C>T	NP_001361624.1:p.Leu541=
NM_007171.4:c.2079C>T	NP_009102.4:p.Leu693=
NR_148391.2:n.2047C>T
NR_148392.2:n.2265C>T
NR_148393.2:n.2186C>T
NR_148394.2:n.1940C>T
NR_148395.2:n.2338C>T
NR_148396.2:n.1972C>T
NR_148397.2:n.2097C>T
NR_148398.2:n.2052C>T
NR_148399.2:n.2578C>T
NR_148400.2:n.2177C>T