Canonical Allele Identifier: CA467423440

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134393873C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518486C>G , CM000671.2:g.131518486C>G	GRCh38
NC_000009.11:g.134393873C>G , CM000671.1:g.134393873C>G	GRCh37
NC_000009.10:g.133383694C>G	NCBI36
NG_008896.1:g.20585C>G
NG_008896.2:g.20585C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1152C>G	ENSP00000343034.7:p.Thr384=
ENST00000404875.7:n.1854C>G
ENST00000423007.6:c.1371C>G	ENSP00000404119.2:p.Thr457=
ENST00000677295.2:c.*1658C>G	ENSP00000504346.2:n.*1658C>G
ENST00000678264.2:c.*1497C>G	ENSP00000503157.2:n.*1497C>G
ENST00000682070.1:n.1779C>G
ENST00000682535.1:n.86C>G
ENST00000682539.1:c.252C>G
ENST00000682813.1:n.1579C>G
ENST00000683110.1:n.42C>G
ENST00000683392.1:n.4061C>G
ENST00000683712.1:n.1719C>G
ENST00000683900.1:n.3214C>G
ENST00000684062.1:n.1980C>G
ENST00000684579.1:n.3160C>G
ENST00000684679.1:n.541C>G
ENST00000341012.12:c.1152C>G	ENSP00000343034.7:p.Thr384=
ENST00000372220.5:c.183C>G	ENSP00000361294.5:p.Thr61=
ENST00000372228.9:c.1380C>G	ENSP00000361302.3:p.Thr460=
ENST00000402686.8:c.1314C>G MANE Select	ENSP00000385797.4:p.Thr438=
ENST00000676640.1:c.1314C>G	ENSP00000503281.1:p.Thr438=
ENST00000676803.1:c.489C>G	ENSP00000503093.1:p.Thr163=
ENST00000676835.1:c.*529C>G	ENSP00000502911.1:n.*529C>G
ENST00000677029.1:c.858C>G	ENSP00000502936.1:p.Thr286=
ENST00000677099.1:c.*1024C>G	ENSP00000504553.1:n.*1024C>G
ENST00000677216.1:c.963C>G	ENSP00000503772.1:p.Thr321=
ENST00000677221.1:n.339C>G
ENST00000677295.1:c.*691C>G	ENSP00000504346.1:n.*691C>G
ENST00000677444.1:c.1120C>G
ENST00000677586.1:n.795C>G
ENST00000677626.1:c.963C>G	ENSP00000503552.1:p.Thr321=
ENST00000677677.1:n.1274C>G
ENST00000677853.1:c.*322C>G	ENSP00000503488.1:n.*322C>G
ENST00000677983.1:n.403C>G
ENST00000678202.1:n.334C>G
ENST00000678264.1:c.*691C>G	ENSP00000503157.1:n.*691C>G
ENST00000678303.1:c.1224C>G	ENSP00000503696.1:p.Thr408=
ENST00000678366.1:c.*1563C>G	ENSP00000504353.1:n.*1563C>G
ENST00000678546.1:c.*1259C>G	ENSP00000503062.1:n.*1259C>G
ENST00000678548.1:c.*1386C>G	ENSP00000503934.1:n.*1386C>G
ENST00000678626.1:n.1011C>G
ENST00000678733.1:c.395C>G
ENST00000678739.1:c.*1640C>G	ENSP00000503806.1:n.*1640C>G
ENST00000678795.1:n.401C>G
ENST00000678833.1:c.*761C>G	ENSP00000503893.1:n.*761C>G
ENST00000678942.1:c.494C>G	ENSP00000504690.1:n.494C>G
ENST00000679023.1:c.1152C>G	ENSP00000503718.1:p.Thr384=
ENST00000679076.1:c.933C>G
ENST00000679111.1:c.1314C>G	ENSP00000504257.1:p.Thr438=
ENST00000679189.1:c.963C>G	ENSP00000503356.1:p.Thr321=
ENST00000341012.11:c.1152C>G	ENSP00000343034.7:p.Thr384=
ENST00000372220.4:c.177C>G	ENSP00000361294.4:p.Thr59=
ENST00000372228.7:c.1380C>G	ENSP00000361302.3:p.Thr460=
ENST00000402686.7:c.1314C>G	ENSP00000385797.3:p.Thr438=
ENST00000404875.6:c.963C>G	ENSP00000384531.2:p.Thr321=
ENST00000423007.5:c.1314C>G	ENSP00000404119.1:p.Thr438=
ENST00000485278.5:n.1869C>G
NM_001077365.1:c.1314C>G	NP_001070833.1:p.Thr438=
NM_001077366.1:c.1152C>G	NP_001070834.1:p.Thr384=
NM_001136113.1:c.1314C>G	NP_001129585.1:p.Thr438=
NM_001136114.1:c.963C>G	NP_001129586.1:p.Thr321=
NM_007171.3:c.1380C>G	NP_009102.3:p.Thr460=
XM_005272156.1:c.1380C>G	XP_005272213.1:p.Thr460=
XM_005272158.1:c.1218C>G	XP_005272215.1:p.Thr406=
XM_005272159.1:c.1029C>G	XP_005272216.1:p.Thr343=
XM_005272162.1:c.183C>G	XP_005272219.1:p.Thr61=
XM_006716932.1:c.1029C>G	XP_006716995.1:p.Thr343=
XM_011518140.1:c.1233C>G	XP_011516442.1:p.Thr411=
XM_011518141.1:c.1167C>G	XP_011516443.1:p.Thr389=
XM_011518142.1:c.1071C>G	XP_011516444.1:p.Thr357=
XM_011518143.1:c.1065C>G	XP_011516445.1:p.Thr355=
XM_011518144.1:c.1380C>G	XP_011516446.1:p.Thr460=
XM_011518145.1:c.924C>G	XP_011516447.1:p.Thr308=
XM_011518146.1:c.1065C>G	XP_011516448.1:p.Thr355=
XM_011518147.1:c.252C>G	XP_011516449.1:p.Thr84=
XR_929703.1:n.1556C>G
NM_001353193.1:c.1380C>G	NP_001340122.1:p.Thr460=
NM_001353194.1:c.1152C>G	NP_001340123.1:p.Thr384=
NM_001353195.1:c.963C>G	NP_001340124.1:p.Thr321=
NM_001353196.1:c.1224C>G	NP_001340125.1:p.Thr408=
NM_001353197.1:c.1218C>G	NP_001340126.1:p.Thr406=
NM_001353198.1:c.1218C>G	NP_001340127.1:p.Thr406=
NM_001353199.1:c.1029C>G	NP_001340128.1:p.Thr343=
NM_001353200.1:c.858C>G	NP_001340129.1:p.Thr286=
NR_148391.1:n.1364C>G
NR_148392.1:n.1582C>G
NR_148393.1:n.1364C>G
NR_148394.1:n.1257C>G
NR_148395.1:n.1516C>G
NR_148396.1:n.1150C>G
NR_148397.1:n.1414C>G
NR_148398.1:n.1369C>G
NR_148399.1:n.1756C>G
NR_148400.1:n.1355C>G
XM_005272162.3:c.183C>G	XP_005272219.1:p.Thr61=
XM_006716932.2:c.1029C>G	XP_006716995.1:p.Thr343=
XM_011518140.2:c.1233C>G	XP_011516442.1:p.Thr411=
XM_011518141.2:c.1167C>G	XP_011516443.1:p.Thr389=
XM_011518142.2:c.1071C>G	XP_011516444.1:p.Thr357=
XM_011518143.2:c.1065C>G	XP_011516445.1:p.Thr355=
XM_011518145.2:c.924C>G	XP_011516447.1:p.Thr308=
XM_017014205.2:c.183C>G	XP_016869694.1:p.Thr61=
XM_024447380.1:c.183C>G	XP_024303148.1:p.Thr61=
XM_024447381.1:c.489C>G	XP_024303149.1:p.Thr163=
XM_024447382.1:c.183C>G	XP_024303150.1:p.Thr61=
XR_001746160.2:n.1484C>G
XR_001746162.2:n.1550C>G
XR_001746164.1:n.1267C>G
XR_001746166.2:n.1701C>G
NM_001077365.2:c.1314C>G MANE Select	NP_001070833.1:p.Thr438=
NM_001077366.2:c.1152C>G	NP_001070834.1:p.Thr384=
NM_001136113.2:c.1314C>G	NP_001129585.1:p.Thr438=
NM_001136114.2:c.963C>G	NP_001129586.1:p.Thr321=
NM_001353193.2:c.1380C>G	NP_001340122.2:p.Thr460=
NM_001353194.2:c.1152C>G	NP_001340123.1:p.Thr384=
NM_001353195.2:c.963C>G	NP_001340124.1:p.Thr321=
NM_001353196.2:c.1224C>G	NP_001340125.1:p.Thr408=
NM_001353197.2:c.1218C>G	NP_001340126.2:p.Thr406=
NM_001353198.2:c.1218C>G	NP_001340127.2:p.Thr406=
NM_001353199.2:c.1029C>G	NP_001340128.2:p.Thr343=
NM_001353200.2:c.858C>G	NP_001340129.1:p.Thr286=
NM_001374689.1:c.1302C>G	NP_001361618.1:p.Thr434=
NM_001374690.1:c.1314C>G	NP_001361619.1:p.Thr438=
NM_001374691.1:c.963C>G	NP_001361620.1:p.Thr321=
NM_001374692.1:c.963C>G	NP_001361621.1:p.Thr321=
NM_001374693.1:c.963C>G	NP_001361622.1:p.Thr321=
NM_001374695.1:c.924C>G	NP_001361624.1:p.Thr308=
NM_007171.4:c.1380C>G	NP_009102.4:p.Thr460=
NR_148391.2:n.1348C>G
NR_148392.2:n.1566C>G
NR_148393.2:n.1348C>G
NR_148394.2:n.1241C>G
NR_148395.2:n.1500C>G
NR_148396.2:n.1134C>G
NR_148397.2:n.1398C>G
NR_148398.2:n.1353C>G
NR_148399.2:n.1740C>G
NR_148400.2:n.1339C>G