Canonical Allele Identifier: CA467423433

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134393858A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518471A>G , CM000671.2:g.131518471A>G	GRCh38
NC_000009.11:g.134393858A>G , CM000671.1:g.134393858A>G	GRCh37
NC_000009.10:g.133383679A>G	NCBI36
NG_008896.1:g.20570A>G
NG_008896.2:g.20570A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1137A>G	ENSP00000343034.7:p.Thr379=
ENST00000404875.7:n.1839A>G
ENST00000423007.6:c.1356A>G	ENSP00000404119.2:p.Thr452=
ENST00000677295.2:c.*1643A>G	ENSP00000504346.2:n.*1643A>G
ENST00000678264.2:c.*1482A>G	ENSP00000503157.2:n.*1482A>G
ENST00000682070.1:n.1764A>G
ENST00000682535.1:n.71A>G
ENST00000682539.1:c.237A>G
ENST00000682813.1:n.1564A>G
ENST00000683110.1:n.27A>G
ENST00000683392.1:n.4046A>G
ENST00000683712.1:n.1704A>G
ENST00000683900.1:n.3199A>G
ENST00000684062.1:n.1965A>G
ENST00000684579.1:n.3145A>G
ENST00000684679.1:n.526A>G
ENST00000341012.12:c.1137A>G	ENSP00000343034.7:p.Thr379=
ENST00000372220.5:c.168A>G	ENSP00000361294.5:p.Thr56=
ENST00000372228.9:c.1365A>G	ENSP00000361302.3:p.Thr455=
ENST00000402686.8:c.1299A>G MANE Select	ENSP00000385797.4:p.Thr433=
ENST00000676640.1:c.1299A>G	ENSP00000503281.1:p.Thr433=
ENST00000676803.1:c.474A>G	ENSP00000503093.1:p.Thr158=
ENST00000676835.1:c.*514A>G	ENSP00000502911.1:n.*514A>G
ENST00000677029.1:c.843A>G	ENSP00000502936.1:p.Thr281=
ENST00000677099.1:c.*1009A>G	ENSP00000504553.1:n.*1009A>G
ENST00000677216.1:c.948A>G	ENSP00000503772.1:p.Thr316=
ENST00000677221.1:n.324A>G
ENST00000677295.1:c.*676A>G	ENSP00000504346.1:n.*676A>G
ENST00000677444.1:c.1105A>G
ENST00000677586.1:n.780A>G
ENST00000677626.1:c.948A>G	ENSP00000503552.1:p.Thr316=
ENST00000677677.1:n.1259A>G
ENST00000677853.1:c.*307A>G	ENSP00000503488.1:n.*307A>G
ENST00000677983.1:n.388A>G
ENST00000678202.1:n.319A>G
ENST00000678264.1:c.*676A>G	ENSP00000503157.1:n.*676A>G
ENST00000678303.1:c.1209A>G	ENSP00000503696.1:p.Thr403=
ENST00000678366.1:c.*1548A>G	ENSP00000504353.1:n.*1548A>G
ENST00000678546.1:c.*1244A>G	ENSP00000503062.1:n.*1244A>G
ENST00000678548.1:c.*1371A>G	ENSP00000503934.1:n.*1371A>G
ENST00000678626.1:n.996A>G
ENST00000678733.1:c.380A>G
ENST00000678739.1:c.*1625A>G	ENSP00000503806.1:n.*1625A>G
ENST00000678795.1:n.386A>G
ENST00000678833.1:c.*746A>G	ENSP00000503893.1:n.*746A>G
ENST00000678942.1:c.479A>G	ENSP00000504690.1:n.479A>G
ENST00000679023.1:c.1137A>G	ENSP00000503718.1:p.Thr379=
ENST00000679076.1:c.918A>G
ENST00000679111.1:c.1299A>G	ENSP00000504257.1:p.Thr433=
ENST00000679189.1:c.948A>G	ENSP00000503356.1:p.Thr316=
ENST00000341012.11:c.1137A>G	ENSP00000343034.7:p.Thr379=
ENST00000372220.4:c.162A>G	ENSP00000361294.4:p.Thr54=
ENST00000372228.7:c.1365A>G	ENSP00000361302.3:p.Thr455=
ENST00000402686.7:c.1299A>G	ENSP00000385797.3:p.Thr433=
ENST00000404875.6:c.948A>G	ENSP00000384531.2:p.Thr316=
ENST00000423007.5:c.1299A>G	ENSP00000404119.1:p.Thr433=
ENST00000485278.5:n.1854A>G
NM_001077365.1:c.1299A>G	NP_001070833.1:p.Thr433=
NM_001077366.1:c.1137A>G	NP_001070834.1:p.Thr379=
NM_001136113.1:c.1299A>G	NP_001129585.1:p.Thr433=
NM_001136114.1:c.948A>G	NP_001129586.1:p.Thr316=
NM_007171.3:c.1365A>G	NP_009102.3:p.Thr455=
XM_005272156.1:c.1365A>G	XP_005272213.1:p.Thr455=
XM_005272158.1:c.1203A>G	XP_005272215.1:p.Thr401=
XM_005272159.1:c.1014A>G	XP_005272216.1:p.Thr338=
XM_005272162.1:c.168A>G	XP_005272219.1:p.Thr56=
XM_006716932.1:c.1014A>G	XP_006716995.1:p.Thr338=
XM_011518140.1:c.1218A>G	XP_011516442.1:p.Thr406=
XM_011518141.1:c.1152A>G	XP_011516443.1:p.Thr384=
XM_011518142.1:c.1056A>G	XP_011516444.1:p.Thr352=
XM_011518143.1:c.1050A>G	XP_011516445.1:p.Thr350=
XM_011518144.1:c.1365A>G	XP_011516446.1:p.Thr455=
XM_011518145.1:c.909A>G	XP_011516447.1:p.Thr303=
XM_011518146.1:c.1050A>G	XP_011516448.1:p.Thr350=
XM_011518147.1:c.237A>G	XP_011516449.1:p.Thr79=
XR_929703.1:n.1541A>G
NM_001353193.1:c.1365A>G	NP_001340122.1:p.Thr455=
NM_001353194.1:c.1137A>G	NP_001340123.1:p.Thr379=
NM_001353195.1:c.948A>G	NP_001340124.1:p.Thr316=
NM_001353196.1:c.1209A>G	NP_001340125.1:p.Thr403=
NM_001353197.1:c.1203A>G	NP_001340126.1:p.Thr401=
NM_001353198.1:c.1203A>G	NP_001340127.1:p.Thr401=
NM_001353199.1:c.1014A>G	NP_001340128.1:p.Thr338=
NM_001353200.1:c.843A>G	NP_001340129.1:p.Thr281=
NR_148391.1:n.1349A>G
NR_148392.1:n.1567A>G
NR_148393.1:n.1349A>G
NR_148394.1:n.1242A>G
NR_148395.1:n.1501A>G
NR_148396.1:n.1135A>G
NR_148397.1:n.1399A>G
NR_148398.1:n.1354A>G
NR_148399.1:n.1741A>G
NR_148400.1:n.1340A>G
XM_005272162.3:c.168A>G	XP_005272219.1:p.Thr56=
XM_006716932.2:c.1014A>G	XP_006716995.1:p.Thr338=
XM_011518140.2:c.1218A>G	XP_011516442.1:p.Thr406=
XM_011518141.2:c.1152A>G	XP_011516443.1:p.Thr384=
XM_011518142.2:c.1056A>G	XP_011516444.1:p.Thr352=
XM_011518143.2:c.1050A>G	XP_011516445.1:p.Thr350=
XM_011518145.2:c.909A>G	XP_011516447.1:p.Thr303=
XM_017014205.2:c.168A>G	XP_016869694.1:p.Thr56=
XM_024447380.1:c.168A>G	XP_024303148.1:p.Thr56=
XM_024447381.1:c.474A>G	XP_024303149.1:p.Thr158=
XM_024447382.1:c.168A>G	XP_024303150.1:p.Thr56=
XR_001746160.2:n.1469A>G
XR_001746162.2:n.1535A>G
XR_001746164.1:n.1252A>G
XR_001746166.2:n.1686A>G
NM_001077365.2:c.1299A>G MANE Select	NP_001070833.1:p.Thr433=
NM_001077366.2:c.1137A>G	NP_001070834.1:p.Thr379=
NM_001136113.2:c.1299A>G	NP_001129585.1:p.Thr433=
NM_001136114.2:c.948A>G	NP_001129586.1:p.Thr316=
NM_001353193.2:c.1365A>G	NP_001340122.2:p.Thr455=
NM_001353194.2:c.1137A>G	NP_001340123.1:p.Thr379=
NM_001353195.2:c.948A>G	NP_001340124.1:p.Thr316=
NM_001353196.2:c.1209A>G	NP_001340125.1:p.Thr403=
NM_001353197.2:c.1203A>G	NP_001340126.2:p.Thr401=
NM_001353198.2:c.1203A>G	NP_001340127.2:p.Thr401=
NM_001353199.2:c.1014A>G	NP_001340128.2:p.Thr338=
NM_001353200.2:c.843A>G	NP_001340129.1:p.Thr281=
NM_001374689.1:c.1287A>G	NP_001361618.1:p.Thr429=
NM_001374690.1:c.1299A>G	NP_001361619.1:p.Thr433=
NM_001374691.1:c.948A>G	NP_001361620.1:p.Thr316=
NM_001374692.1:c.948A>G	NP_001361621.1:p.Thr316=
NM_001374693.1:c.948A>G	NP_001361622.1:p.Thr316=
NM_001374695.1:c.909A>G	NP_001361624.1:p.Thr303=
NM_007171.4:c.1365A>G	NP_009102.4:p.Thr455=
NR_148391.2:n.1333A>G
NR_148392.2:n.1551A>G
NR_148393.2:n.1333A>G
NR_148394.2:n.1226A>G
NR_148395.2:n.1485A>G
NR_148396.2:n.1119A>G
NR_148397.2:n.1383A>G
NR_148398.2:n.1338A>G
NR_148399.2:n.1725A>G
NR_148400.2:n.1324A>G