Canonical Allele Identifier: CA467422144

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134390855C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131515468C>G , CM000671.2:g.131515468C>G	GRCh38
NC_000009.11:g.134390855C>G , CM000671.1:g.134390855C>G	GRCh37
NC_000009.10:g.133380676C>G	NCBI36
NG_008896.1:g.17567C>G
NG_008896.2:g.17567C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1056C>G	ENSP00000343034.7:p.Val352=
ENST00000404875.7:n.1758C>G
ENST00000423007.6:c.1275C>G	ENSP00000404119.2:p.Val425=
ENST00000677295.2:c.*1562C>G	ENSP00000504346.2:n.*1562C>G
ENST00000678264.2:c.*1401C>G	ENSP00000503157.2:n.*1401C>G
ENST00000682070.1:n.1683C>G
ENST00000682539.1:c.43C>G
ENST00000682813.1:n.1483C>G
ENST00000683392.1:n.3965C>G
ENST00000683712.1:n.1623C>G
ENST00000683900.1:n.3118C>G
ENST00000684062.1:n.1884C>G
ENST00000684579.1:n.3064C>G
ENST00000341012.12:c.1056C>G	ENSP00000343034.7:p.Val352=
ENST00000372220.5:c.87C>G	ENSP00000361294.5:p.Val29=
ENST00000372228.9:c.1284C>G	ENSP00000361302.3:p.Val428=
ENST00000402686.8:c.1218C>G MANE Select	ENSP00000385797.4:p.Val406=
ENST00000676640.1:c.1218C>G	ENSP00000503281.1:p.Val406=
ENST00000676803.1:c.393C>G	ENSP00000503093.1:p.Val131=
ENST00000676835.1:c.*433C>G	ENSP00000502911.1:n.*433C>G
ENST00000677029.1:c.762C>G	ENSP00000502936.1:p.Val254=
ENST00000677099.1:c.*928C>G	ENSP00000504553.1:n.*928C>G
ENST00000677216.1:c.867C>G	ENSP00000503772.1:p.Val289=
ENST00000677295.1:c.*595C>G	ENSP00000504346.1:n.*595C>G
ENST00000677444.1:c.1024C>G
ENST00000677586.1:n.699C>G
ENST00000677626.1:c.867C>G	ENSP00000503552.1:p.Val289=
ENST00000677677.1:n.1178C>G
ENST00000677853.1:c.*226C>G	ENSP00000503488.1:n.*226C>G
ENST00000677944.1:c.480C>G
ENST00000678264.1:c.*595C>G	ENSP00000503157.1:n.*595C>G
ENST00000678303.1:c.1128C>G	ENSP00000503696.1:p.Val376=
ENST00000678366.1:c.*1467C>G	ENSP00000504353.1:n.*1467C>G
ENST00000678546.1:c.*1163C>G	ENSP00000503062.1:n.*1163C>G
ENST00000678548.1:c.*1290C>G	ENSP00000503934.1:n.*1290C>G
ENST00000678626.1:n.915C>G
ENST00000678733.1:c.299C>G
ENST00000678739.1:c.*1544C>G	ENSP00000503806.1:n.*1544C>G
ENST00000678795.1:n.305C>G
ENST00000678833.1:c.*665C>G	ENSP00000503893.1:n.*665C>G
ENST00000678942.1:c.398C>G	ENSP00000504690.1:n.398C>G
ENST00000679023.1:c.1056C>G	ENSP00000503718.1:p.Val352=
ENST00000679076.1:c.837C>G
ENST00000679111.1:c.1218C>G	ENSP00000504257.1:p.Val406=
ENST00000679189.1:c.867C>G	ENSP00000503356.1:p.Val289=
ENST00000341012.11:c.1056C>G	ENSP00000343034.7:p.Val352=
ENST00000372228.7:c.1284C>G	ENSP00000361302.3:p.Val428=
ENST00000402686.7:c.1218C>G	ENSP00000385797.3:p.Val406=
ENST00000404875.6:c.867C>G	ENSP00000384531.2:p.Val289=
ENST00000423007.5:c.1218C>G	ENSP00000404119.1:p.Val406=
ENST00000485278.5:n.1773C>G
NM_001077365.1:c.1218C>G	NP_001070833.1:p.Val406=
NM_001077366.1:c.1056C>G	NP_001070834.1:p.Val352=
NM_001136113.1:c.1218C>G	NP_001129585.1:p.Val406=
NM_001136114.1:c.867C>G	NP_001129586.1:p.Val289=
NM_007171.3:c.1284C>G	NP_009102.3:p.Val428=
XM_005272156.1:c.1284C>G	XP_005272213.1:p.Val428=
XM_005272158.1:c.1122C>G	XP_005272215.1:p.Val374=
XM_005272159.1:c.933C>G	XP_005272216.1:p.Val311=
XM_005272162.1:c.87C>G	XP_005272219.1:p.Val29=
XM_006716932.1:c.933C>G	XP_006716995.1:p.Val311=
XM_011518140.1:c.1137C>G	XP_011516442.1:p.Val379=
XM_011518141.1:c.1071C>G	XP_011516443.1:p.Val357=
XM_011518142.1:c.975C>G	XP_011516444.1:p.Val325=
XM_011518143.1:c.969C>G	XP_011516445.1:p.Val323=
XM_011518144.1:c.1284C>G	XP_011516446.1:p.Val428=
XM_011518145.1:c.828C>G	XP_011516447.1:p.Val276=
XM_011518146.1:c.969C>G	XP_011516448.1:p.Val323=
XR_929703.1:n.1460C>G
NM_001353193.1:c.1284C>G	NP_001340122.1:p.Val428=
NM_001353194.1:c.1056C>G	NP_001340123.1:p.Val352=
NM_001353195.1:c.867C>G	NP_001340124.1:p.Val289=
NM_001353196.1:c.1128C>G	NP_001340125.1:p.Val376=
NM_001353197.1:c.1122C>G	NP_001340126.1:p.Val374=
NM_001353198.1:c.1122C>G	NP_001340127.1:p.Val374=
NM_001353199.1:c.933C>G	NP_001340128.1:p.Val311=
NM_001353200.1:c.762C>G	NP_001340129.1:p.Val254=
NR_148391.1:n.1268C>G
NR_148392.1:n.1486C>G
NR_148393.1:n.1268C>G
NR_148394.1:n.1161C>G
NR_148395.1:n.1420C>G
NR_148396.1:n.1054C>G
NR_148397.1:n.1318C>G
NR_148398.1:n.1273C>G
NR_148399.1:n.1660C>G
NR_148400.1:n.1259C>G
XM_005272162.3:c.87C>G	XP_005272219.1:p.Val29=
XM_006716932.2:c.933C>G	XP_006716995.1:p.Val311=
XM_011518140.2:c.1137C>G	XP_011516442.1:p.Val379=
XM_011518141.2:c.1071C>G	XP_011516443.1:p.Val357=
XM_011518142.2:c.975C>G	XP_011516444.1:p.Val325=
XM_011518143.2:c.969C>G	XP_011516445.1:p.Val323=
XM_011518145.2:c.828C>G	XP_011516447.1:p.Val276=
XM_017014205.2:c.87C>G	XP_016869694.1:p.Val29=
XM_024447380.1:c.87C>G	XP_024303148.1:p.Val29=
XM_024447381.1:c.393C>G	XP_024303149.1:p.Val131=
XM_024447382.1:c.87C>G	XP_024303150.1:p.Val29=
XR_001746160.2:n.1388C>G
XR_001746162.2:n.1454C>G
XR_001746164.1:n.1171C>G
XR_001746166.2:n.1605C>G
NM_001077365.2:c.1218C>G MANE Select	NP_001070833.1:p.Val406=
NM_001077366.2:c.1056C>G	NP_001070834.1:p.Val352=
NM_001136113.2:c.1218C>G	NP_001129585.1:p.Val406=
NM_001136114.2:c.867C>G	NP_001129586.1:p.Val289=
NM_001353193.2:c.1284C>G	NP_001340122.2:p.Val428=
NM_001353194.2:c.1056C>G	NP_001340123.1:p.Val352=
NM_001353195.2:c.867C>G	NP_001340124.1:p.Val289=
NM_001353196.2:c.1128C>G	NP_001340125.1:p.Val376=
NM_001353197.2:c.1122C>G	NP_001340126.2:p.Val374=
NM_001353198.2:c.1122C>G	NP_001340127.2:p.Val374=
NM_001353199.2:c.933C>G	NP_001340128.2:p.Val311=
NM_001353200.2:c.762C>G	NP_001340129.1:p.Val254=
NM_001374689.1:c.1206C>G	NP_001361618.1:p.Val402=
NM_001374690.1:c.1218C>G	NP_001361619.1:p.Val406=
NM_001374691.1:c.867C>G	NP_001361620.1:p.Val289=
NM_001374692.1:c.867C>G	NP_001361621.1:p.Val289=
NM_001374693.1:c.867C>G	NP_001361622.1:p.Val289=
NM_001374695.1:c.828C>G	NP_001361624.1:p.Val276=
NM_007171.4:c.1284C>G	NP_009102.4:p.Val428=
NR_148391.2:n.1252C>G
NR_148392.2:n.1470C>G
NR_148393.2:n.1252C>G
NR_148394.2:n.1145C>G
NR_148395.2:n.1404C>G
NR_148396.2:n.1038C>G
NR_148397.2:n.1302C>G
NR_148398.2:n.1257C>G
NR_148399.2:n.1644C>G
NR_148400.2:n.1243C>G