Canonical Allele Identifier: CA375307957

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134385796C>A (hg19) ; chr9:g.131510409C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131510409C>A , CM000671.2:g.131510409C>A	GRCh38
NC_000009.11:g.134385796C>A , CM000671.1:g.134385796C>A	GRCh37
NC_000009.10:g.133375617C>A	NCBI36
NG_008896.1:g.12508C>A
NG_008896.2:g.12508C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.687C>A	ENSP00000343034.7:p.Ser229Arg
ENST00000404875.7:n.1221C>A
ENST00000423007.6:c.906C>A	ENSP00000404119.2:p.Ser302Arg
ENST00000677295.2:c.*1188C>A	ENSP00000504346.2:n.*1188C>A
ENST00000678264.2:c.*1032C>A	ENSP00000503157.2:n.*1032C>A
ENST00000678942.2:c.*402C>A	ENSP00000504690.2:n.*402C>A
ENST00000682070.1:n.1309C>A
ENST00000682813.1:n.1114C>A
ENST00000683134.1:c.216C>A
ENST00000683392.1:n.3596C>A
ENST00000683712.1:n.1249C>A
ENST00000683855.1:n.389C>A
ENST00000683900.1:n.2176C>A
ENST00000684062.1:n.1515C>A
ENST00000684579.1:n.2690C>A
ENST00000341012.12:c.687C>A	ENSP00000343034.7:p.Ser229Arg
ENST00000372220.5:c.-145-1632C>A	ENSP00000361294.5:n.-145-1632C>A
ENST00000372228.9:c.915C>A	ENSP00000361302.3:p.Ser305Arg
ENST00000402686.8:c.849C>A MANE Select	ENSP00000385797.4:p.Ser283Arg
ENST00000415075.6:c.*302C>A	ENSP00000405149.2:n.*302C>A
ENST00000676640.1:c.849C>A	ENSP00000503281.1:p.Ser283Arg
ENST00000676803.1:c.24C>A	ENSP00000503093.1:p.Ser8Arg
ENST00000676835.1:c.*59C>A	ENSP00000502911.1:n.*59C>A
ENST00000677029.1:c.393C>A	ENSP00000502936.1:p.Ser131Arg
ENST00000677099.1:c.*559C>A	ENSP00000504553.1:n.*559C>A
ENST00000677216.1:c.498C>A	ENSP00000503772.1:p.Ser166Arg
ENST00000677293.1:c.24C>A	ENSP00000504278.1:p.Ser8Arg
ENST00000677295.1:c.*221C>A	ENSP00000504346.1:n.*221C>A
ENST00000677444.1:c.655C>A
ENST00000677586.1:n.330C>A
ENST00000677626.1:c.687C>A	ENSP00000503552.1:p.Ser229Arg
ENST00000677677.1:n.809C>A
ENST00000677853.1:c.430C>A	ENSP00000503488.1:p.Leu144Ile
ENST00000677944.1:c.111C>A
ENST00000678264.1:c.*221C>A	ENSP00000503157.1:n.*221C>A
ENST00000678303.1:c.759C>A	ENSP00000503696.1:p.Ser253Arg
ENST00000678366.1:c.*1098C>A	ENSP00000504353.1:n.*1098C>A
ENST00000678546.1:c.*221C>A	ENSP00000503062.1:n.*221C>A
ENST00000678548.1:c.*916C>A	ENSP00000503934.1:n.*916C>A
ENST00000678626.1:n.541C>A
ENST00000678707.1:n.487C>A
ENST00000678733.1:c.23C>A
ENST00000678739.1:c.*1170C>A	ENSP00000503806.1:n.*1170C>A
ENST00000678833.1:c.*296C>A	ENSP00000503893.1:n.*296C>A
ENST00000678942.1:c.24C>A	ENSP00000504690.1:p.Ser8Arg
ENST00000679023.1:c.687C>A	ENSP00000503718.1:p.Ser229Arg
ENST00000679073.1:c.227C>A	ENSP00000504356.1:n.227C>A
ENST00000679076.1:c.463C>A
ENST00000679111.1:c.849C>A	ENSP00000504257.1:p.Ser283Arg
ENST00000679189.1:c.498C>A	ENSP00000503356.1:p.Ser166Arg
ENST00000341012.11:c.687C>A	ENSP00000343034.7:p.Ser229Arg
ENST00000372228.7:c.915C>A	ENSP00000361302.3:p.Ser305Arg
ENST00000402686.7:c.849C>A	ENSP00000385797.3:p.Ser283Arg
ENST00000404875.6:c.498C>A	ENSP00000384531.2:p.Ser166Arg
ENST00000415075.5:c.241C>A	ENSP00000405149.1:p.Leu81Ile
ENST00000423007.5:c.849C>A	ENSP00000404119.1:p.Ser283Arg
ENST00000430619.1:c.498C>A	ENSP00000402083.1:p.Ser166Arg
ENST00000441334.5:c.564C>A	ENSP00000395060.1:p.Ser188Arg
ENST00000462375.5:n.670C>A
NM_001077365.1:c.849C>A	NP_001070833.1:p.Ser283Arg
NM_001077366.1:c.687C>A	NP_001070834.1:p.Ser229Arg
NM_001136113.1:c.849C>A	NP_001129585.1:p.Ser283Arg
NM_001136114.1:c.498C>A	NP_001129586.1:p.Ser166Arg
NM_007171.3:c.915C>A	NP_009102.3:p.Ser305Arg
XM_005272156.1:c.915C>A	XP_005272213.1:p.Ser305Arg
XM_005272158.1:c.753C>A	XP_005272215.1:p.Ser251Arg
XM_005272159.1:c.564C>A	XP_005272216.1:p.Ser188Arg
XM_005272162.1:c.-288C>A	XP_005272219.1:n.-288C>A
XM_006716932.1:c.564C>A	XP_006716995.1:p.Ser188Arg
XM_011518140.1:c.768C>A	XP_011516442.1:p.Ser256Arg
XM_011518141.1:c.702C>A	XP_011516443.1:p.Ser234Arg
XM_011518142.1:c.606C>A	XP_011516444.1:p.Ser202Arg
XM_011518143.1:c.595C>A	XP_011516445.1:p.Leu199Ile
XM_011518144.1:c.915C>A	XP_011516446.1:p.Ser305Arg
XM_011518145.1:c.459C>A	XP_011516447.1:p.Ser153Arg
XM_011518146.1:c.595C>A	XP_011516448.1:p.Leu199Ile
XR_929703.1:n.1091C>A
NM_001353193.1:c.915C>A	NP_001340122.1:p.Ser305Arg
NM_001353194.1:c.687C>A	NP_001340123.1:p.Ser229Arg
NM_001353195.1:c.498C>A	NP_001340124.1:p.Ser166Arg
NM_001353196.1:c.759C>A	NP_001340125.1:p.Ser253Arg
NM_001353197.1:c.753C>A	NP_001340126.1:p.Ser251Arg
NM_001353198.1:c.753C>A	NP_001340127.1:p.Ser251Arg
NM_001353199.1:c.564C>A	NP_001340128.1:p.Ser188Arg
NM_001353200.1:c.393C>A	NP_001340129.1:p.Ser131Arg
NR_148391.1:n.899C>A
NR_148392.1:n.1117C>A
NR_148393.1:n.899C>A
NR_148394.1:n.787C>A
NR_148395.1:n.1051C>A
NR_148396.1:n.680C>A
NR_148397.1:n.944C>A
NR_148398.1:n.899C>A
NR_148399.1:n.1291C>A
NR_148400.1:n.885C>A
XM_005272162.3:c.-288C>A	XP_005272219.1:n.-288C>A
XM_006716932.2:c.564C>A	XP_006716995.1:p.Ser188Arg
XM_011518140.2:c.768C>A	XP_011516442.1:p.Ser256Arg
XM_011518141.2:c.702C>A	XP_011516443.1:p.Ser234Arg
XM_011518142.2:c.606C>A	XP_011516444.1:p.Ser202Arg
XM_011518143.2:c.595C>A	XP_011516445.1:p.Leu199Ile
XM_011518145.2:c.459C>A	XP_011516447.1:p.Ser153Arg
XM_017014205.2:c.-288C>A	XP_016869694.1:n.-288C>A
XM_024447380.1:c.-288C>A	XP_024303148.1:n.-288C>A
XM_024447381.1:c.24C>A	XP_024303149.1:p.Ser8Arg
XM_024447382.1:c.-288C>A	XP_024303150.1:n.-288C>A
XR_001746160.2:n.1019C>A
XR_001746162.2:n.1085C>A
XR_001746164.1:n.797C>A
XR_001746166.2:n.1236C>A
NM_001077365.2:c.849C>A MANE Select	NP_001070833.1:p.Ser283Arg
NM_001077366.2:c.687C>A	NP_001070834.1:p.Ser229Arg
NM_001136113.2:c.849C>A	NP_001129585.1:p.Ser283Arg
NM_001136114.2:c.498C>A	NP_001129586.1:p.Ser166Arg
NM_001353193.2:c.915C>A	NP_001340122.2:p.Ser305Arg
NM_001353194.2:c.687C>A	NP_001340123.1:p.Ser229Arg
NM_001353195.2:c.498C>A	NP_001340124.1:p.Ser166Arg
NM_001353196.2:c.759C>A	NP_001340125.1:p.Ser253Arg
NM_001353197.2:c.753C>A	NP_001340126.2:p.Ser251Arg
NM_001353198.2:c.753C>A	NP_001340127.2:p.Ser251Arg
NM_001353199.2:c.564C>A	NP_001340128.2:p.Ser188Arg
NM_001353200.2:c.393C>A	NP_001340129.1:p.Ser131Arg
NM_001374689.1:c.832C>A	NP_001361618.1:p.Leu278Ile
NM_001374690.1:c.849C>A	NP_001361619.1:p.Ser283Arg
NM_001374691.1:c.498C>A	NP_001361620.1:p.Ser166Arg
NM_001374692.1:c.498C>A	NP_001361621.1:p.Ser166Arg
NM_001374693.1:c.687C>A	NP_001361622.1:p.Ser229Arg
NM_001374695.1:c.459C>A	NP_001361624.1:p.Ser153Arg
NM_007171.4:c.915C>A	NP_009102.4:p.Ser305Arg
NR_148391.2:n.883C>A
NR_148392.2:n.1101C>A
NR_148393.2:n.883C>A
NR_148394.2:n.771C>A
NR_148395.2:n.1035C>A
NR_148396.2:n.664C>A
NR_148397.2:n.928C>A
NR_148398.2:n.883C>A
NR_148399.2:n.1275C>A
NR_148400.2:n.869C>A