Canonical Allele Identifier: CA375307747

Gene: POMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131510327T>A , CM000671.2:g.131510327T>A	GRCh38
NC_000009.11:g.134385714T>A , CM000671.1:g.134385714T>A	GRCh37
NC_000009.10:g.133375535T>A	NCBI36
NG_008896.1:g.12426T>A
NG_008896.2:g.12426T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001077365.2:c.767T>A MANE Select	NP_001070833.1:p.Leu256Ter
ENST00000402686.8:c.767T>A MANE Select	ENSP00000385797.4:p.Leu256Ter
NM_001077365.1:c.767T>A	NP_001070833.1:p.Leu256Ter
NM_001077366.1:c.605T>A	NP_001070834.1:p.Leu202Ter
NM_001077366.2:c.605T>A	NP_001070834.1:p.Leu202Ter
NM_001136113.1:c.767T>A	NP_001129585.1:p.Leu256Ter
NM_001136113.2:c.767T>A	NP_001129585.1:p.Leu256Ter
NM_001136114.1:c.416T>A	NP_001129586.1:p.Leu139Ter
NM_001136114.2:c.416T>A	NP_001129586.1:p.Leu139Ter
NM_001353193.1:c.833T>A	NP_001340122.1:p.Leu278Ter
NM_001353193.2:c.833T>A	NP_001340122.2:p.Leu278Ter
NM_001353194.1:c.605T>A	NP_001340123.1:p.Leu202Ter
NM_001353194.2:c.605T>A	NP_001340123.1:p.Leu202Ter
NM_001353195.1:c.416T>A	NP_001340124.1:p.Leu139Ter
NM_001353195.2:c.416T>A	NP_001340124.1:p.Leu139Ter
NM_001353196.1:c.677T>A	NP_001340125.1:p.Leu226Ter
NM_001353196.2:c.677T>A	NP_001340125.1:p.Leu226Ter
NM_001353197.1:c.671T>A	NP_001340126.1:p.Leu224Ter
NM_001353197.2:c.671T>A	NP_001340126.2:p.Leu224Ter
NM_001353198.1:c.671T>A	NP_001340127.1:p.Leu224Ter
NM_001353198.2:c.671T>A	NP_001340127.2:p.Leu224Ter
NM_001353199.1:c.482T>A	NP_001340128.1:p.Leu161Ter
NM_001353199.2:c.482T>A	NP_001340128.2:p.Leu161Ter
NM_001353200.1:c.311T>A	NP_001340129.1:p.Leu104Ter
NM_001353200.2:c.311T>A	NP_001340129.1:p.Leu104Ter
NM_001374689.1:c.750T>A	NP_001361618.1:p.Leu250=
NM_001374690.1:c.767T>A	NP_001361619.1:p.Leu256Ter
NM_001374691.1:c.416T>A	NP_001361620.1:p.Leu139Ter
NM_001374692.1:c.416T>A	NP_001361621.1:p.Leu139Ter
NM_001374693.1:c.605T>A	NP_001361622.1:p.Leu202Ter
NM_001374695.1:c.377T>A	NP_001361624.1:p.Leu126Ter
NM_007171.3:c.833T>A	NP_009102.3:p.Leu278Ter
NM_007171.4:c.833T>A	NP_009102.4:p.Leu278Ter
NR_148391.1:n.817T>A
NR_148391.2:n.801T>A
NR_148392.1:n.1035T>A
NR_148392.2:n.1019T>A
NR_148393.1:n.817T>A
NR_148393.2:n.801T>A
NR_148394.1:n.705T>A
NR_148394.2:n.689T>A
NR_148395.1:n.969T>A
NR_148395.2:n.953T>A
NR_148396.1:n.598T>A
NR_148396.2:n.582T>A
NR_148397.1:n.862T>A
NR_148397.2:n.846T>A
NR_148398.1:n.817T>A
NR_148398.2:n.801T>A
NR_148399.1:n.1209T>A
NR_148399.2:n.1193T>A
NR_148400.1:n.803T>A
NR_148400.2:n.787T>A
ENST00000341012.11:c.605T>A	ENSP00000343034.7:p.Leu202Ter
ENST00000341012.12:c.605T>A	ENSP00000343034.7:p.Leu202Ter
ENST00000341012.13:c.605T>A	ENSP00000343034.7:p.Leu202Ter
ENST00000372220.5:c.-145-1714T>A	ENSP00000361294.5:n.-145-1714T>A
ENST00000372228.7:c.833T>A	ENSP00000361302.3:p.Leu278Ter
ENST00000372228.9:c.833T>A	ENSP00000361302.3:p.Leu278Ter
ENST00000402686.7:c.767T>A	ENSP00000385797.3:p.Leu256Ter
ENST00000404875.6:c.416T>A	ENSP00000384531.2:p.Leu139Ter
ENST00000404875.7:n.1139T>A
ENST00000415075.5:c.189-30T>A	ENSP00000405149.1:n.189-30T>A
ENST00000415075.6:c.*250-30T>A	ENSP00000405149.2:n.*250-30T>A
ENST00000423007.5:c.767T>A	ENSP00000404119.1:p.Leu256Ter
ENST00000423007.6:c.824T>A	ENSP00000404119.2:p.Leu275Ter
ENST00000430619.1:c.416T>A	ENSP00000402083.1:p.Leu139Ter
ENST00000441334.5:c.482T>A	ENSP00000395060.1:p.Leu161Ter
ENST00000462375.5:n.588T>A
ENST00000676640.1:c.767T>A	ENSP00000503281.1:p.Leu256Ter
ENST00000676803.1:c.-59T>A	ENSP00000503093.1:n.-59T>A
ENST00000676835.1:c.256T>A	ENSP00000502911.1:p.Tyr86Asn
ENST00000677029.1:c.311T>A	ENSP00000502936.1:p.Leu104Ter
ENST00000677099.1:c.*477T>A	ENSP00000504553.1:n.*477T>A
ENST00000677216.1:c.416T>A	ENSP00000503772.1:p.Leu139Ter
ENST00000677293.1:c.-29-30T>A	ENSP00000504278.1:n.-29-30T>A
ENST00000677295.1:c.*139T>A	ENSP00000504346.1:n.*139T>A
ENST00000677295.2:c.*1106T>A	ENSP00000504346.2:n.*1106T>A
ENST00000677444.1:c.573T>A
ENST00000677586.1:n.248T>A
ENST00000677626.1:c.605T>A	ENSP00000503552.1:p.Leu202Ter
ENST00000677677.1:n.727T>A
ENST00000677853.1:c.378-30T>A	ENSP00000503488.1:n.378-30T>A
ENST00000677944.1:c.59-30T>A
ENST00000678264.1:c.*139T>A	ENSP00000503157.1:n.*139T>A
ENST00000678264.2:c.*950T>A	ENSP00000503157.2:n.*950T>A
ENST00000678303.1:c.677T>A	ENSP00000503696.1:p.Leu226Ter
ENST00000678366.1:c.*1016T>A	ENSP00000504353.1:n.*1016T>A
ENST00000678546.1:c.*139T>A	ENSP00000503062.1:n.*139T>A
ENST00000678548.1:c.*834T>A	ENSP00000503934.1:n.*834T>A
ENST00000678626.1:n.459T>A
ENST00000678707.1:n.405T>A
ENST00000678739.1:c.*1088T>A	ENSP00000503806.1:n.*1088T>A
ENST00000678833.1:c.*214T>A	ENSP00000503893.1:n.*214T>A
ENST00000678942.2:c.*320T>A	ENSP00000504690.2:n.*320T>A
ENST00000679023.1:c.605T>A	ENSP00000503718.1:p.Leu202Ter
ENST00000679073.1:c.145T>A	ENSP00000504356.1:n.145T>A
ENST00000679076.1:c.411-30T>A
ENST00000679111.1:c.767T>A	ENSP00000504257.1:p.Leu256Ter
ENST00000679189.1:c.416T>A	ENSP00000503356.1:p.Leu139Ter
ENST00000682070.1:n.1227T>A
ENST00000682813.1:n.1032T>A
ENST00000683134.1:c.134T>A
ENST00000683392.1:n.3514T>A
ENST00000683712.1:n.1167T>A
ENST00000683855.1:n.307T>A
ENST00000683900.1:n.2094T>A
ENST00000684062.1:n.1433T>A
ENST00000684579.1:n.2608T>A
XM_005272156.1:c.833T>A	XP_005272213.1:p.Leu278Ter
XM_005272158.1:c.671T>A	XP_005272215.1:p.Leu224Ter
XM_005272159.1:c.482T>A	XP_005272216.1:p.Leu161Ter
XM_005272162.1:c.-370T>A	XP_005272219.1:n.-370T>A
XM_005272162.3:c.-370T>A	XP_005272219.1:n.-370T>A
XM_006716932.1:c.482T>A	XP_006716995.1:p.Leu161Ter
XM_006716932.2:c.482T>A	XP_006716995.1:p.Leu161Ter
XM_011518140.1:c.686T>A	XP_011516442.1:p.Leu229Ter
XM_011518140.2:c.686T>A	XP_011516442.1:p.Leu229Ter
XM_011518141.1:c.620T>A	XP_011516443.1:p.Leu207Ter
XM_011518141.2:c.620T>A	XP_011516443.1:p.Leu207Ter
XM_011518142.1:c.524T>A	XP_011516444.1:p.Leu175Ter
XM_011518142.2:c.524T>A	XP_011516444.1:p.Leu175Ter
XM_011518143.1:c.513T>A	XP_011516445.1:p.Leu171=
XM_011518143.2:c.513T>A	XP_011516445.1:p.Leu171=
XM_011518144.1:c.833T>A	XP_011516446.1:p.Leu278Ter
XM_011518145.1:c.377T>A	XP_011516447.1:p.Leu126Ter
XM_011518145.2:c.377T>A	XP_011516447.1:p.Leu126Ter
XM_011518146.1:c.513T>A	XP_011516448.1:p.Leu171=
XM_017014205.2:c.-370T>A	XP_016869694.1:n.-370T>A
XM_024447380.1:c.-370T>A	XP_024303148.1:n.-370T>A
XM_024447381.1:c.-59T>A	XP_024303149.1:n.-59T>A
XM_024447382.1:c.-370T>A	XP_024303150.1:n.-370T>A
XR_001746160.2:n.937T>A
XR_001746162.2:n.1003T>A
XR_001746164.1:n.715T>A
XR_001746166.2:n.1154T>A
XR_929703.1:n.1009T>A