Canonical Allele Identifier: CA5293480

Gene: POMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131511460C>A , CM000671.2:g.131511460C>A	GRCh38
NC_000009.11:g.134386847C>A , CM000671.1:g.134386847C>A	GRCh37
NC_000009.10:g.133376668C>A	NCBI36
NG_008896.1:g.13559C>A
NG_008896.2:g.13559C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001077365.2:c.979C>A MANE Select	NP_001070833.1:p.Pro327Thr
ENST00000402686.8:c.979C>A MANE Select	ENSP00000385797.4:p.Pro327Thr
NM_001077365.1:c.979C>A	NP_001070833.1:p.Pro327Thr
NM_001077366.1:c.817C>A	NP_001070834.1:p.Pro273Thr
NM_001077366.2:c.817C>A	NP_001070834.1:p.Pro273Thr
NM_001136113.1:c.979C>A	NP_001129585.1:p.Pro327Thr
NM_001136113.2:c.979C>A	NP_001129585.1:p.Pro327Thr
NM_001136114.1:c.628C>A	NP_001129586.1:p.Pro210Thr
NM_001136114.2:c.628C>A	NP_001129586.1:p.Pro210Thr
NM_001353193.1:c.1045C>A	NP_001340122.1:p.Pro349Thr
NM_001353193.2:c.1045C>A	NP_001340122.2:p.Pro349Thr
NM_001353194.1:c.817C>A	NP_001340123.1:p.Pro273Thr
NM_001353194.2:c.817C>A	NP_001340123.1:p.Pro273Thr
NM_001353195.1:c.628C>A	NP_001340124.1:p.Pro210Thr
NM_001353195.2:c.628C>A	NP_001340124.1:p.Pro210Thr
NM_001353196.1:c.889C>A	NP_001340125.1:p.Pro297Thr
NM_001353196.2:c.889C>A	NP_001340125.1:p.Pro297Thr
NM_001353197.1:c.883C>A	NP_001340126.1:p.Pro295Thr
NM_001353197.2:c.883C>A	NP_001340126.2:p.Pro295Thr
NM_001353198.1:c.883C>A	NP_001340127.1:p.Pro295Thr
NM_001353198.2:c.883C>A	NP_001340127.2:p.Pro295Thr
NM_001353199.1:c.694C>A	NP_001340128.1:p.Pro232Thr
NM_001353199.2:c.694C>A	NP_001340128.2:p.Pro232Thr
NM_001353200.1:c.523C>A	NP_001340129.1:p.Pro175Thr
NM_001353200.2:c.523C>A	NP_001340129.1:p.Pro175Thr
NM_001374689.1:c.962C>A	NP_001361618.1:p.Pro321His
NM_001374690.1:c.979C>A	NP_001361619.1:p.Pro327Thr
NM_001374691.1:c.628C>A	NP_001361620.1:p.Pro210Thr
NM_001374692.1:c.628C>A	NP_001361621.1:p.Pro210Thr
NM_001374693.1:c.817C>A	NP_001361622.1:p.Pro273Thr
NM_001374695.1:c.589C>A	NP_001361624.1:p.Pro197Thr
NM_007171.3:c.1045C>A	NP_009102.3:p.Pro349Thr
NM_007171.4:c.1045C>A	NP_009102.4:p.Pro349Thr
NR_148391.1:n.1029C>A
NR_148391.2:n.1013C>A
NR_148392.1:n.1247C>A
NR_148392.2:n.1231C>A
NR_148393.1:n.1029C>A
NR_148393.2:n.1013C>A
NR_148394.1:n.917C>A
NR_148394.2:n.901C>A
NR_148395.1:n.1181C>A
NR_148395.2:n.1165C>A
NR_148396.1:n.810C>A
NR_148396.2:n.794C>A
NR_148397.1:n.1074C>A
NR_148397.2:n.1058C>A
NR_148398.1:n.1029C>A
NR_148398.2:n.1013C>A
NR_148399.1:n.1421C>A
NR_148399.2:n.1405C>A
NR_148400.1:n.1015C>A
NR_148400.2:n.999C>A
ENST00000341012.11:c.817C>A	ENSP00000343034.7:p.Pro273Thr
ENST00000341012.12:c.817C>A	ENSP00000343034.7:p.Pro273Thr
ENST00000341012.13:c.817C>A	ENSP00000343034.7:p.Pro273Thr
ENST00000372220.5:c.-145-581C>A	ENSP00000361294.5:n.-145-581C>A
ENST00000372228.7:c.1045C>A	ENSP00000361302.3:p.Pro349Thr
ENST00000372228.9:c.1045C>A	ENSP00000361302.3:p.Pro349Thr
ENST00000402686.7:c.979C>A	ENSP00000385797.3:p.Pro327Thr
ENST00000404875.6:c.628C>A	ENSP00000384531.2:p.Pro210Thr
ENST00000404875.7:n.1351C>A
ENST00000415075.5:c.371C>A	ENSP00000405149.1:p.Pro124His
ENST00000415075.6:c.*432C>A	ENSP00000405149.2:n.*432C>A
ENST00000423007.5:c.979C>A	ENSP00000404119.1:p.Pro327Thr
ENST00000423007.6:c.1036C>A	ENSP00000404119.2:p.Pro346Thr
ENST00000441334.5:c.694C>A	ENSP00000395060.1:p.Pro232Thr
ENST00000462375.5:n.800C>A
ENST00000485278.5:n.961C>A
ENST00000676640.1:c.979C>A	ENSP00000503281.1:p.Pro327Thr
ENST00000676803.1:c.154C>A	ENSP00000503093.1:p.Pro52Thr
ENST00000676835.1:c.*189C>A	ENSP00000502911.1:n.*189C>A
ENST00000677029.1:c.523C>A	ENSP00000502936.1:p.Pro175Thr
ENST00000677099.1:c.*689C>A	ENSP00000504553.1:n.*689C>A
ENST00000677216.1:c.628C>A	ENSP00000503772.1:p.Pro210Thr
ENST00000677293.1:c.154C>A	ENSP00000504278.1:p.Pro52Thr
ENST00000677295.1:c.*351C>A	ENSP00000504346.1:n.*351C>A
ENST00000677295.2:c.*1318C>A	ENSP00000504346.2:n.*1318C>A
ENST00000677444.1:c.785C>A
ENST00000677586.1:n.460C>A
ENST00000677626.1:c.817C>A	ENSP00000503552.1:p.Pro273Thr
ENST00000677677.1:n.939C>A
ENST00000677853.1:c.560C>A	ENSP00000503488.1:p.Pro187His
ENST00000677944.1:c.241C>A
ENST00000678264.1:c.*351C>A	ENSP00000503157.1:n.*351C>A
ENST00000678264.2:c.*1162C>A	ENSP00000503157.2:n.*1162C>A
ENST00000678303.1:c.889C>A	ENSP00000503696.1:p.Pro297Thr
ENST00000678366.1:c.*1228C>A	ENSP00000504353.1:n.*1228C>A
ENST00000678546.1:c.*351C>A	ENSP00000503062.1:n.*351C>A
ENST00000678548.1:c.*1046C>A	ENSP00000503934.1:n.*1046C>A
ENST00000678626.1:n.671C>A
ENST00000678733.1:c.153C>A
ENST00000678739.1:c.*1300C>A	ENSP00000503806.1:n.*1300C>A
ENST00000678833.1:c.*426C>A	ENSP00000503893.1:n.*426C>A
ENST00000678942.1:c.154C>A	ENSP00000504690.1:p.Pro52Thr
ENST00000678942.2:c.*532C>A	ENSP00000504690.2:n.*532C>A
ENST00000679023.1:c.817C>A	ENSP00000503718.1:p.Pro273Thr
ENST00000679073.1:c.357C>A	ENSP00000504356.1:n.357C>A
ENST00000679076.1:c.593C>A
ENST00000679111.1:c.979C>A	ENSP00000504257.1:p.Pro327Thr
ENST00000679189.1:c.628C>A	ENSP00000503356.1:p.Pro210Thr
ENST00000682070.1:n.1439C>A
ENST00000682813.1:n.1244C>A
ENST00000683134.1:c.346C>A
ENST00000683392.1:n.3726C>A
ENST00000683712.1:n.1379C>A
ENST00000683900.1:n.2306C>A
ENST00000684062.1:n.1645C>A
ENST00000684579.1:n.2820C>A
XM_005272156.1:c.1045C>A	XP_005272213.1:p.Pro349Thr
XM_005272158.1:c.883C>A	XP_005272215.1:p.Pro295Thr
XM_005272159.1:c.694C>A	XP_005272216.1:p.Pro232Thr
XM_005272162.1:c.-158C>A	XP_005272219.1:n.-158C>A
XM_005272162.3:c.-158C>A	XP_005272219.1:n.-158C>A
XM_006716932.1:c.694C>A	XP_006716995.1:p.Pro232Thr
XM_006716932.2:c.694C>A	XP_006716995.1:p.Pro232Thr
XM_011518140.1:c.898C>A	XP_011516442.1:p.Pro300Thr
XM_011518140.2:c.898C>A	XP_011516442.1:p.Pro300Thr
XM_011518141.1:c.832C>A	XP_011516443.1:p.Pro278Thr
XM_011518141.2:c.832C>A	XP_011516443.1:p.Pro278Thr
XM_011518142.1:c.736C>A	XP_011516444.1:p.Pro246Thr
XM_011518142.2:c.736C>A	XP_011516444.1:p.Pro246Thr
XM_011518143.1:c.725C>A	XP_011516445.1:p.Pro242His
XM_011518143.2:c.725C>A	XP_011516445.1:p.Pro242His
XM_011518144.1:c.1045C>A	XP_011516446.1:p.Pro349Thr
XM_011518145.1:c.589C>A	XP_011516447.1:p.Pro197Thr
XM_011518145.2:c.589C>A	XP_011516447.1:p.Pro197Thr
XM_011518146.1:c.725C>A	XP_011516448.1:p.Pro242His
XM_017014205.2:c.-158C>A	XP_016869694.1:n.-158C>A
XM_024447380.1:c.-158C>A	XP_024303148.1:n.-158C>A
XM_024447381.1:c.154C>A	XP_024303149.1:p.Pro52Thr
XM_024447382.1:c.-158C>A	XP_024303150.1:n.-158C>A
XR_001746160.2:n.1149C>A
XR_001746162.2:n.1215C>A
XR_001746164.1:n.927C>A
XR_001746166.2:n.1366C>A
XR_929703.1:n.1221C>A