Canonical Allele Identifier: CA1881760256

Gene: POMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523013C= , CM000671.2:g.131523013C=	GRCh38
NC_000009.11:g.134398400C= , CM000671.1:g.134398400C=	GRCh37
NC_000009.10:g.133388221C=	NCBI36
NG_008896.1:g.25112C=
NG_008896.2:g.25112C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1923C=	ENSP00000343034.7:p.Arg641=
ENST00000404875.7:n.2625C=
ENST00000423007.6:c.2142C=	ENSP00000404119.2:p.Arg714=
ENST00000677295.2:c.*2429C=	ENSP00000504346.2:n.*2429C=
ENST00000678264.2:c.*2268C=	ENSP00000503157.2:n.*2268C=
ENST00000682070.1:n.2395C=
ENST00000682639.1:c.82C=
ENST00000682813.1:n.2482C=
ENST00000683231.1:c.82C=
ENST00000683392.1:n.4677C=
ENST00000683712.1:n.2490C=
ENST00000683900.1:n.3985C=
ENST00000684062.1:n.2751C=
ENST00000684399.1:c.82C=
ENST00000684579.1:n.3931C=
ENST00000341012.12:c.1923C=	ENSP00000343034.7:p.Arg641=
ENST00000372220.5:c.954C=	ENSP00000361294.5:p.Arg318=
ENST00000372228.9:c.2151C=	ENSP00000361302.3:p.Arg717=
ENST00000402686.8:c.2085C= MANE Select	ENSP00000385797.4:p.Arg695=
ENST00000676640.1:c.2085C=	ENSP00000503281.1:p.Arg695=
ENST00000676803.1:c.1146C=	ENSP00000503093.1:p.Arg382=
ENST00000676835.1:c.*1300C=	ENSP00000502911.1:n.*1300C=
ENST00000677029.1:c.1629C=	ENSP00000502936.1:p.Arg543=
ENST00000677099.1:c.*1795C=	ENSP00000504553.1:n.*1795C=
ENST00000677216.1:c.1734C=	ENSP00000503772.1:p.Arg578=
ENST00000677221.1:n.1110C=
ENST00000677295.1:c.*1307C=	ENSP00000504346.1:n.*1307C=
ENST00000677444.1:c.2030C=
ENST00000677586.1:n.1452C=
ENST00000677626.1:c.1734C=	ENSP00000503552.1:p.Arg578=
ENST00000677853.1:c.*1093C=	ENSP00000503488.1:n.*1093C=
ENST00000678264.1:c.*1462C=	ENSP00000503157.1:n.*1462C=
ENST00000678303.1:c.1995C=	ENSP00000503696.1:p.Arg665=
ENST00000678366.1:c.*2334C=	ENSP00000504353.1:n.*2334C=
ENST00000678546.1:c.*2030C=	ENSP00000503062.1:n.*2030C=
ENST00000678548.1:c.*2224C=	ENSP00000503934.1:n.*2224C=
ENST00000678626.1:n.1921C=
ENST00000678739.1:c.*2251C=	ENSP00000503806.1:n.*2251C=
ENST00000678833.1:c.*1837C=	ENSP00000503893.1:n.*1837C=
ENST00000679023.1:c.1923C=	ENSP00000503718.1:p.Arg641=
ENST00000679076.1:c.1704C=
ENST00000679111.1:c.*841C=	ENSP00000504257.1:n.*841C=
ENST00000679189.1:c.1734C=	ENSP00000503356.1:p.Arg578=
ENST00000341012.11:c.1923C=	ENSP00000343034.7:p.Arg641=
ENST00000372220.4:c.948C=	ENSP00000361294.4:p.Arg316=
ENST00000372228.7:c.2151C=	ENSP00000361302.3:p.Arg717=
ENST00000402686.7:c.2085C=	ENSP00000385797.3:p.Arg695=
ENST00000404875.6:c.1734C=	ENSP00000384531.2:p.Arg578=
ENST00000423007.5:c.2085C=	ENSP00000404119.1:p.Arg695=
ENST00000485278.5:n.2635C=
NM_001077365.1:c.2085C=	NP_001070833.1:p.Arg695=
NM_001077366.1:c.1923C=	NP_001070834.1:p.Arg641=
NM_001136113.1:c.2085C=	NP_001129585.1:p.Arg695=
NM_001136114.1:c.1734C=	NP_001129586.1:p.Arg578=
NM_007171.3:c.2151C=	NP_009102.3:p.Arg717=
XM_005272156.1:c.2151C=	XP_005272213.1:p.Arg717=
XM_005272158.1:c.1989C=	XP_005272215.1:p.Arg663=
XM_005272159.1:c.1800C=	XP_005272216.1:p.Arg600=
XM_005272162.1:c.954C=	XP_005272219.1:p.Arg318=
XM_006716932.1:c.1800C=	XP_006716995.1:p.Arg600=
XM_011518140.1:c.2004C=	XP_011516442.1:p.Arg668=
XM_011518141.1:c.1938C=	XP_011516443.1:p.Arg646=
XM_011518142.1:c.1842C=	XP_011516444.1:p.Arg614=
XM_011518143.1:c.1836C=	XP_011516445.1:p.Arg612=
XM_011518145.1:c.1695C=	XP_011516447.1:p.Arg565=
XM_011518147.1:c.1023C=	XP_011516449.1:p.Arg341=
XR_929703.1:n.2327C=
NM_001353193.1:c.2151C=	NP_001340122.1:p.Arg717=
NM_001353194.1:c.1923C=	NP_001340123.1:p.Arg641=
NM_001353195.1:c.1734C=	NP_001340124.1:p.Arg578=
NM_001353196.1:c.1995C=	NP_001340125.1:p.Arg665=
NM_001353197.1:c.1989C=	NP_001340126.1:p.Arg663=
NM_001353198.1:c.1989C=	NP_001340127.1:p.Arg663=
NM_001353199.1:c.1800C=	NP_001340128.1:p.Arg600=
NM_001353200.1:c.1629C=	NP_001340129.1:p.Arg543=
NR_148391.1:n.2135C=
NR_148392.1:n.2353C=
NR_148393.1:n.2274C=
NR_148394.1:n.2028C=
NR_148395.1:n.2426C=
NR_148396.1:n.2060C=
NR_148397.1:n.2185C=
NR_148398.1:n.2140C=
NR_148399.1:n.2666C=
NR_148400.1:n.2265C=
XM_005272162.3:c.954C=	XP_005272219.1:p.Arg318=
XM_006716932.2:c.1800C=	XP_006716995.1:p.Arg600=
XM_011518140.2:c.2004C=	XP_011516442.1:p.Arg668=
XM_011518141.2:c.1938C=	XP_011516443.1:p.Arg646=
XM_011518142.2:c.1842C=	XP_011516444.1:p.Arg614=
XM_011518143.2:c.1836C=	XP_011516445.1:p.Arg612=
XM_011518145.2:c.1695C=	XP_011516447.1:p.Arg565=
XM_017014205.2:c.954C=	XP_016869694.1:p.Arg318=
XM_024447380.1:c.954C=	XP_024303148.1:p.Arg318=
XM_024447381.1:c.1260C=	XP_024303149.1:p.Arg420=
XM_024447382.1:c.954C=	XP_024303150.1:p.Arg318=
XR_001746160.2:n.2255C=
XR_001746162.2:n.2460C=
XR_001746164.1:n.2177C=
XR_001746166.2:n.2472C=
NM_001077365.2:c.2085C= MANE Select	NP_001070833.1:p.Arg695=
NM_001077366.2:c.1923C=	NP_001070834.1:p.Arg641=
NM_001136113.2:c.2085C=	NP_001129585.1:p.Arg695=
NM_001136114.2:c.1734C=	NP_001129586.1:p.Arg578=
NM_001353193.2:c.2151C=	NP_001340122.2:p.Arg717=
NM_001353194.2:c.1923C=	NP_001340123.1:p.Arg641=
NM_001353195.2:c.1734C=	NP_001340124.1:p.Arg578=
NM_001353196.2:c.1995C=	NP_001340125.1:p.Arg665=
NM_001353197.2:c.1989C=	NP_001340126.2:p.Arg663=
NM_001353198.2:c.1989C=	NP_001340127.2:p.Arg663=
NM_001353199.2:c.1800C=	NP_001340128.2:p.Arg600=
NM_001353200.2:c.1629C=	NP_001340129.1:p.Arg543=
NM_001374689.1:c.2073C=	NP_001361618.1:p.Arg691=
NM_001374690.1:c.1866C=	NP_001361619.1:p.Arg622=
NM_001374691.1:c.1734C=	NP_001361620.1:p.Arg578=
NM_001374692.1:c.1734C=	NP_001361621.1:p.Arg578=
NM_001374693.1:c.1734C=	NP_001361622.1:p.Arg578=
NM_001374695.1:c.1695C=	NP_001361624.1:p.Arg565=
NM_007171.4:c.2151C=	NP_009102.4:p.Arg717=
NR_148391.2:n.2119C=
NR_148392.2:n.2337C=
NR_148393.2:n.2258C=
NR_148394.2:n.2012C=
NR_148395.2:n.2410C=
NR_148396.2:n.2044C=
NR_148397.2:n.2169C=
NR_148398.2:n.2124C=
NR_148399.2:n.2650C=
NR_148400.2:n.2249C=