Canonical Allele Identifier: CA375311291

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134393872C>T (hg19) ; chr9:g.131518485C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518485C>T , CM000671.2:g.131518485C>T	GRCh38
NC_000009.11:g.134393872C>T , CM000671.1:g.134393872C>T	GRCh37
NC_000009.10:g.133383693C>T	NCBI36
NG_008896.1:g.20584C>T
NG_008896.2:g.20584C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1151C>T	ENSP00000343034.7:p.Thr384Ile
ENST00000404875.7:n.1853C>T
ENST00000423007.6:c.1370C>T	ENSP00000404119.2:p.Thr457Ile
ENST00000677295.2:c.*1657C>T	ENSP00000504346.2:n.*1657C>T
ENST00000678264.2:c.*1496C>T	ENSP00000503157.2:n.*1496C>T
ENST00000682070.1:n.1778C>T
ENST00000682535.1:n.85C>T
ENST00000682539.1:c.251C>T
ENST00000682813.1:n.1578C>T
ENST00000683110.1:n.41C>T
ENST00000683392.1:n.4060C>T
ENST00000683712.1:n.1718C>T
ENST00000683900.1:n.3213C>T
ENST00000684062.1:n.1979C>T
ENST00000684579.1:n.3159C>T
ENST00000684679.1:n.540C>T
ENST00000341012.12:c.1151C>T	ENSP00000343034.7:p.Thr384Ile
ENST00000372220.5:c.182C>T	ENSP00000361294.5:p.Thr61Ile
ENST00000372228.9:c.1379C>T	ENSP00000361302.3:p.Thr460Ile
ENST00000402686.8:c.1313C>T MANE Select	ENSP00000385797.4:p.Thr438Ile
ENST00000676640.1:c.1313C>T	ENSP00000503281.1:p.Thr438Ile
ENST00000676803.1:c.488C>T	ENSP00000503093.1:p.Thr163Ile
ENST00000676835.1:c.*528C>T	ENSP00000502911.1:n.*528C>T
ENST00000677029.1:c.857C>T	ENSP00000502936.1:p.Thr286Ile
ENST00000677099.1:c.*1023C>T	ENSP00000504553.1:n.*1023C>T
ENST00000677216.1:c.962C>T	ENSP00000503772.1:p.Thr321Ile
ENST00000677221.1:n.338C>T
ENST00000677295.1:c.*690C>T	ENSP00000504346.1:n.*690C>T
ENST00000677444.1:c.1119C>T
ENST00000677586.1:n.794C>T
ENST00000677626.1:c.962C>T	ENSP00000503552.1:p.Thr321Ile
ENST00000677677.1:n.1273C>T
ENST00000677853.1:c.*321C>T	ENSP00000503488.1:n.*321C>T
ENST00000677983.1:n.402C>T
ENST00000678202.1:n.333C>T
ENST00000678264.1:c.*690C>T	ENSP00000503157.1:n.*690C>T
ENST00000678303.1:c.1223C>T	ENSP00000503696.1:p.Thr408Ile
ENST00000678366.1:c.*1562C>T	ENSP00000504353.1:n.*1562C>T
ENST00000678546.1:c.*1258C>T	ENSP00000503062.1:n.*1258C>T
ENST00000678548.1:c.*1385C>T	ENSP00000503934.1:n.*1385C>T
ENST00000678626.1:n.1010C>T
ENST00000678733.1:c.394C>T
ENST00000678739.1:c.*1639C>T	ENSP00000503806.1:n.*1639C>T
ENST00000678795.1:n.400C>T
ENST00000678833.1:c.*760C>T	ENSP00000503893.1:n.*760C>T
ENST00000678942.1:c.493C>T	ENSP00000504690.1:n.493C>T
ENST00000679023.1:c.1151C>T	ENSP00000503718.1:p.Thr384Ile
ENST00000679076.1:c.932C>T
ENST00000679111.1:c.1313C>T	ENSP00000504257.1:p.Thr438Ile
ENST00000679189.1:c.962C>T	ENSP00000503356.1:p.Thr321Ile
ENST00000341012.11:c.1151C>T	ENSP00000343034.7:p.Thr384Ile
ENST00000372220.4:c.176C>T	ENSP00000361294.4:p.Thr59Ile
ENST00000372228.7:c.1379C>T	ENSP00000361302.3:p.Thr460Ile
ENST00000402686.7:c.1313C>T	ENSP00000385797.3:p.Thr438Ile
ENST00000404875.6:c.962C>T	ENSP00000384531.2:p.Thr321Ile
ENST00000423007.5:c.1313C>T	ENSP00000404119.1:p.Thr438Ile
ENST00000485278.5:n.1868C>T
NM_001077365.1:c.1313C>T	NP_001070833.1:p.Thr438Ile
NM_001077366.1:c.1151C>T	NP_001070834.1:p.Thr384Ile
NM_001136113.1:c.1313C>T	NP_001129585.1:p.Thr438Ile
NM_001136114.1:c.962C>T	NP_001129586.1:p.Thr321Ile
NM_007171.3:c.1379C>T	NP_009102.3:p.Thr460Ile
XM_005272156.1:c.1379C>T	XP_005272213.1:p.Thr460Ile
XM_005272158.1:c.1217C>T	XP_005272215.1:p.Thr406Ile
XM_005272159.1:c.1028C>T	XP_005272216.1:p.Thr343Ile
XM_005272162.1:c.182C>T	XP_005272219.1:p.Thr61Ile
XM_006716932.1:c.1028C>T	XP_006716995.1:p.Thr343Ile
XM_011518140.1:c.1232C>T	XP_011516442.1:p.Thr411Ile
XM_011518141.1:c.1166C>T	XP_011516443.1:p.Thr389Ile
XM_011518142.1:c.1070C>T	XP_011516444.1:p.Thr357Ile
XM_011518143.1:c.1064C>T	XP_011516445.1:p.Thr355Ile
XM_011518144.1:c.1379C>T	XP_011516446.1:p.Thr460Ile
XM_011518145.1:c.923C>T	XP_011516447.1:p.Thr308Ile
XM_011518146.1:c.1064C>T	XP_011516448.1:p.Thr355Ile
XM_011518147.1:c.251C>T	XP_011516449.1:p.Thr84Ile
XR_929703.1:n.1555C>T
NM_001353193.1:c.1379C>T	NP_001340122.1:p.Thr460Ile
NM_001353194.1:c.1151C>T	NP_001340123.1:p.Thr384Ile
NM_001353195.1:c.962C>T	NP_001340124.1:p.Thr321Ile
NM_001353196.1:c.1223C>T	NP_001340125.1:p.Thr408Ile
NM_001353197.1:c.1217C>T	NP_001340126.1:p.Thr406Ile
NM_001353198.1:c.1217C>T	NP_001340127.1:p.Thr406Ile
NM_001353199.1:c.1028C>T	NP_001340128.1:p.Thr343Ile
NM_001353200.1:c.857C>T	NP_001340129.1:p.Thr286Ile
NR_148391.1:n.1363C>T
NR_148392.1:n.1581C>T
NR_148393.1:n.1363C>T
NR_148394.1:n.1256C>T
NR_148395.1:n.1515C>T
NR_148396.1:n.1149C>T
NR_148397.1:n.1413C>T
NR_148398.1:n.1368C>T
NR_148399.1:n.1755C>T
NR_148400.1:n.1354C>T
XM_005272162.3:c.182C>T	XP_005272219.1:p.Thr61Ile
XM_006716932.2:c.1028C>T	XP_006716995.1:p.Thr343Ile
XM_011518140.2:c.1232C>T	XP_011516442.1:p.Thr411Ile
XM_011518141.2:c.1166C>T	XP_011516443.1:p.Thr389Ile
XM_011518142.2:c.1070C>T	XP_011516444.1:p.Thr357Ile
XM_011518143.2:c.1064C>T	XP_011516445.1:p.Thr355Ile
XM_011518145.2:c.923C>T	XP_011516447.1:p.Thr308Ile
XM_017014205.2:c.182C>T	XP_016869694.1:p.Thr61Ile
XM_024447380.1:c.182C>T	XP_024303148.1:p.Thr61Ile
XM_024447381.1:c.488C>T	XP_024303149.1:p.Thr163Ile
XM_024447382.1:c.182C>T	XP_024303150.1:p.Thr61Ile
XR_001746160.2:n.1483C>T
XR_001746162.2:n.1549C>T
XR_001746164.1:n.1266C>T
XR_001746166.2:n.1700C>T
NM_001077365.2:c.1313C>T MANE Select	NP_001070833.1:p.Thr438Ile
NM_001077366.2:c.1151C>T	NP_001070834.1:p.Thr384Ile
NM_001136113.2:c.1313C>T	NP_001129585.1:p.Thr438Ile
NM_001136114.2:c.962C>T	NP_001129586.1:p.Thr321Ile
NM_001353193.2:c.1379C>T	NP_001340122.2:p.Thr460Ile
NM_001353194.2:c.1151C>T	NP_001340123.1:p.Thr384Ile
NM_001353195.2:c.962C>T	NP_001340124.1:p.Thr321Ile
NM_001353196.2:c.1223C>T	NP_001340125.1:p.Thr408Ile
NM_001353197.2:c.1217C>T	NP_001340126.2:p.Thr406Ile
NM_001353198.2:c.1217C>T	NP_001340127.2:p.Thr406Ile
NM_001353199.2:c.1028C>T	NP_001340128.2:p.Thr343Ile
NM_001353200.2:c.857C>T	NP_001340129.1:p.Thr286Ile
NM_001374689.1:c.1301C>T	NP_001361618.1:p.Thr434Ile
NM_001374690.1:c.1313C>T	NP_001361619.1:p.Thr438Ile
NM_001374691.1:c.962C>T	NP_001361620.1:p.Thr321Ile
NM_001374692.1:c.962C>T	NP_001361621.1:p.Thr321Ile
NM_001374693.1:c.962C>T	NP_001361622.1:p.Thr321Ile
NM_001374695.1:c.923C>T	NP_001361624.1:p.Thr308Ile
NM_007171.4:c.1379C>T	NP_009102.4:p.Thr460Ile
NR_148391.2:n.1347C>T
NR_148392.2:n.1565C>T
NR_148393.2:n.1347C>T
NR_148394.2:n.1240C>T
NR_148395.2:n.1499C>T
NR_148396.2:n.1133C>T
NR_148397.2:n.1397C>T
NR_148398.2:n.1352C>T
NR_148399.2:n.1739C>T
NR_148400.2:n.1338C>T