Canonical Allele Identifier: CA10605359

Gene: POMT1

Linked Data

• ClinVar Variation Id: 286100
• ClinVar RCV Id: RCV000298509 ; RCV001081730
• dbSNP Id: rs886043307
• MyVariant Identifiers: chr9:g.134385793C>T (hg19) ; chr9:g.131510406C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131510406C>T , CM000671.2:g.131510406C>T	GRCh38
NC_000009.11:g.134385793C>T , CM000671.1:g.134385793C>T	GRCh37
NC_000009.10:g.133375614C>T	NCBI36
NG_008896.1:g.12505C>T
NG_008896.2:g.12505C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.684C>T	ENSP00000343034.7:p.Ala228=
ENST00000404875.7:n.1218C>T
ENST00000423007.6:c.903C>T	ENSP00000404119.2:p.Ala301=
ENST00000677295.2:c.*1185C>T	ENSP00000504346.2:n.*1185C>T
ENST00000678264.2:c.*1029C>T	ENSP00000503157.2:n.*1029C>T
ENST00000678942.2:c.*399C>T	ENSP00000504690.2:n.*399C>T
ENST00000682070.1:n.1306C>T
ENST00000682813.1:n.1111C>T
ENST00000683134.1:c.213C>T
ENST00000683392.1:n.3593C>T
ENST00000683712.1:n.1246C>T
ENST00000683855.1:n.386C>T
ENST00000683900.1:n.2173C>T
ENST00000684062.1:n.1512C>T
ENST00000684579.1:n.2687C>T
ENST00000341012.12:c.684C>T	ENSP00000343034.7:p.Ala228=
ENST00000372220.5:c.-145-1635C>T	ENSP00000361294.5:n.-145-1635C>T
ENST00000372228.9:c.912C>T	ENSP00000361302.3:p.Ala304=
ENST00000402686.8:c.846C>T MANE Select	ENSP00000385797.4:p.Ala282=
ENST00000415075.6:c.*299C>T	ENSP00000405149.2:n.*299C>T
ENST00000676640.1:c.846C>T	ENSP00000503281.1:p.Ala282=
ENST00000676803.1:c.21C>T	ENSP00000503093.1:p.Ala7=
ENST00000676835.1:c.*56C>T	ENSP00000502911.1:n.*56C>T
ENST00000677029.1:c.390C>T	ENSP00000502936.1:p.Ala130=
ENST00000677099.1:c.*556C>T	ENSP00000504553.1:n.*556C>T
ENST00000677216.1:c.495C>T	ENSP00000503772.1:p.Ala165=
ENST00000677293.1:c.21C>T	ENSP00000504278.1:p.Ala7=
ENST00000677295.1:c.*218C>T	ENSP00000504346.1:n.*218C>T
ENST00000677444.1:c.652C>T
ENST00000677586.1:n.327C>T
ENST00000677626.1:c.684C>T	ENSP00000503552.1:p.Ala228=
ENST00000677677.1:n.806C>T
ENST00000677853.1:c.427C>T	ENSP00000503488.1:p.Gln143Ter
ENST00000677944.1:c.108C>T
ENST00000678264.1:c.*218C>T	ENSP00000503157.1:n.*218C>T
ENST00000678303.1:c.756C>T	ENSP00000503696.1:p.Ala252=
ENST00000678366.1:c.*1095C>T	ENSP00000504353.1:n.*1095C>T
ENST00000678546.1:c.*218C>T	ENSP00000503062.1:n.*218C>T
ENST00000678548.1:c.*913C>T	ENSP00000503934.1:n.*913C>T
ENST00000678626.1:n.538C>T
ENST00000678707.1:n.484C>T
ENST00000678733.1:c.20C>T
ENST00000678739.1:c.*1167C>T	ENSP00000503806.1:n.*1167C>T
ENST00000678833.1:c.*293C>T	ENSP00000503893.1:n.*293C>T
ENST00000678942.1:c.21C>T	ENSP00000504690.1:p.Ala7=
ENST00000679023.1:c.684C>T	ENSP00000503718.1:p.Ala228=
ENST00000679073.1:c.224C>T	ENSP00000504356.1:n.224C>T
ENST00000679076.1:c.460C>T
ENST00000679111.1:c.846C>T	ENSP00000504257.1:p.Ala282=
ENST00000679189.1:c.495C>T	ENSP00000503356.1:p.Ala165=
ENST00000341012.11:c.684C>T	ENSP00000343034.7:p.Ala228=
ENST00000372228.7:c.912C>T	ENSP00000361302.3:p.Ala304=
ENST00000402686.7:c.846C>T	ENSP00000385797.3:p.Ala282=
ENST00000404875.6:c.495C>T	ENSP00000384531.2:p.Ala165=
ENST00000415075.5:c.238C>T	ENSP00000405149.1:p.Gln80Ter
ENST00000423007.5:c.846C>T	ENSP00000404119.1:p.Ala282=
ENST00000430619.1:c.495C>T	ENSP00000402083.1:p.Ala165=
ENST00000441334.5:c.561C>T	ENSP00000395060.1:p.Ala187=
ENST00000462375.5:n.667C>T
NM_001077365.1:c.846C>T	NP_001070833.1:p.Ala282=
NM_001077366.1:c.684C>T	NP_001070834.1:p.Ala228=
NM_001136113.1:c.846C>T	NP_001129585.1:p.Ala282=
NM_001136114.1:c.495C>T	NP_001129586.1:p.Ala165=
NM_007171.3:c.912C>T	NP_009102.3:p.Ala304=
XM_005272156.1:c.912C>T	XP_005272213.1:p.Ala304=
XM_005272158.1:c.750C>T	XP_005272215.1:p.Ala250=
XM_005272159.1:c.561C>T	XP_005272216.1:p.Ala187=
XM_005272162.1:c.-291C>T	XP_005272219.1:n.-291C>T
XM_006716932.1:c.561C>T	XP_006716995.1:p.Ala187=
XM_011518140.1:c.765C>T	XP_011516442.1:p.Ala255=
XM_011518141.1:c.699C>T	XP_011516443.1:p.Ala233=
XM_011518142.1:c.603C>T	XP_011516444.1:p.Ala201=
XM_011518143.1:c.592C>T	XP_011516445.1:p.Gln198Ter
XM_011518144.1:c.912C>T	XP_011516446.1:p.Ala304=
XM_011518145.1:c.456C>T	XP_011516447.1:p.Ala152=
XM_011518146.1:c.592C>T	XP_011516448.1:p.Gln198Ter
XR_929703.1:n.1088C>T
NM_001353193.1:c.912C>T	NP_001340122.1:p.Ala304=
NM_001353194.1:c.684C>T	NP_001340123.1:p.Ala228=
NM_001353195.1:c.495C>T	NP_001340124.1:p.Ala165=
NM_001353196.1:c.756C>T	NP_001340125.1:p.Ala252=
NM_001353197.1:c.750C>T	NP_001340126.1:p.Ala250=
NM_001353198.1:c.750C>T	NP_001340127.1:p.Ala250=
NM_001353199.1:c.561C>T	NP_001340128.1:p.Ala187=
NM_001353200.1:c.390C>T	NP_001340129.1:p.Ala130=
NR_148391.1:n.896C>T
NR_148392.1:n.1114C>T
NR_148393.1:n.896C>T
NR_148394.1:n.784C>T
NR_148395.1:n.1048C>T
NR_148396.1:n.677C>T
NR_148397.1:n.941C>T
NR_148398.1:n.896C>T
NR_148399.1:n.1288C>T
NR_148400.1:n.882C>T
XM_005272162.3:c.-291C>T	XP_005272219.1:n.-291C>T
XM_006716932.2:c.561C>T	XP_006716995.1:p.Ala187=
XM_011518140.2:c.765C>T	XP_011516442.1:p.Ala255=
XM_011518141.2:c.699C>T	XP_011516443.1:p.Ala233=
XM_011518142.2:c.603C>T	XP_011516444.1:p.Ala201=
XM_011518143.2:c.592C>T	XP_011516445.1:p.Gln198Ter
XM_011518145.2:c.456C>T	XP_011516447.1:p.Ala152=
XM_017014205.2:c.-291C>T	XP_016869694.1:n.-291C>T
XM_024447380.1:c.-291C>T	XP_024303148.1:n.-291C>T
XM_024447381.1:c.21C>T	XP_024303149.1:p.Ala7=
XM_024447382.1:c.-291C>T	XP_024303150.1:n.-291C>T
XR_001746160.2:n.1016C>T
XR_001746162.2:n.1082C>T
XR_001746164.1:n.794C>T
XR_001746166.2:n.1233C>T
NM_001077365.2:c.846C>T MANE Select	NP_001070833.1:p.Ala282=
NM_001077366.2:c.684C>T	NP_001070834.1:p.Ala228=
NM_001136113.2:c.846C>T	NP_001129585.1:p.Ala282=
NM_001136114.2:c.495C>T	NP_001129586.1:p.Ala165=
NM_001353193.2:c.912C>T	NP_001340122.2:p.Ala304=
NM_001353194.2:c.684C>T	NP_001340123.1:p.Ala228=
NM_001353195.2:c.495C>T	NP_001340124.1:p.Ala165=
NM_001353196.2:c.756C>T	NP_001340125.1:p.Ala252=
NM_001353197.2:c.750C>T	NP_001340126.2:p.Ala250=
NM_001353198.2:c.750C>T	NP_001340127.2:p.Ala250=
NM_001353199.2:c.561C>T	NP_001340128.2:p.Ala187=
NM_001353200.2:c.390C>T	NP_001340129.1:p.Ala130=
NM_001374689.1:c.829C>T	NP_001361618.1:p.Gln277Ter
NM_001374690.1:c.846C>T	NP_001361619.1:p.Ala282=
NM_001374691.1:c.495C>T	NP_001361620.1:p.Ala165=
NM_001374692.1:c.495C>T	NP_001361621.1:p.Ala165=
NM_001374693.1:c.684C>T	NP_001361622.1:p.Ala228=
NM_001374695.1:c.456C>T	NP_001361624.1:p.Ala152=
NM_007171.4:c.912C>T	NP_009102.4:p.Ala304=
NR_148391.2:n.880C>T
NR_148392.2:n.1098C>T
NR_148393.2:n.880C>T
NR_148394.2:n.768C>T
NR_148395.2:n.1032C>T
NR_148396.2:n.661C>T
NR_148397.2:n.925C>T
NR_148398.2:n.880C>T
NR_148399.2:n.1272C>T
NR_148400.2:n.866C>T