Canonical Allele Identifier: CA860556025

Gene: POMT1

Linked Data

• dbSNP Id: rs1260135476
• MyVariant Identifiers: chr9:g.134393996_134393997insGA (hg19) ; chr9:g.131518609_131518610insGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518609_131518610insGA , CM000671.2:g.131518609_131518610insGA	GRCh38
NC_000009.11:g.134393996_134393997insGA , CM000671.1:g.134393996_134393997insGA	GRCh37
NC_000009.10:g.133383817_133383818insGA	NCBI36
NG_008896.1:g.20708_20709insGA
NG_008896.2:g.20708_20709insGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1203+72_1203+73insGA	ENSP00000343034.7:n.1203+72_1203+73insGA
ENST00000404875.7:n.1905+72_1905+73insGA
ENST00000423007.6:c.1422+72_1422+73insGA	ENSP00000404119.2:n.1422+72_1422+73insGA
ENST00000677295.2:c.*1709+72_*1709+73insGA	ENSP00000504346.2:n.*1709+72_*1709+73insGA
ENST00000678264.2:c.*1548+72_*1548+73insGA	ENSP00000503157.2:n.*1548+72_*1548+73insGA
ENST00000682070.1:n.1830+72_1830+73insGA
ENST00000682539.1:c.303+72_303+73insGA
ENST00000682813.1:n.1630+72_1630+73insGA
ENST00000683110.1:n.93+72_93+73insGA
ENST00000683392.1:n.4112+72_4112+73insGA
ENST00000683712.1:n.1770+72_1770+73insGA
ENST00000683900.1:n.3265+72_3265+73insGA
ENST00000684062.1:n.2031+72_2031+73insGA
ENST00000684579.1:n.3211+72_3211+73insGA
ENST00000684679.1:n.592+72_592+73insGA
ENST00000341012.12:c.1203+72_1203+73insGA	ENSP00000343034.7:n.1203+72_1203+73insGA
ENST00000372220.5:c.234+72_234+73insGA	ENSP00000361294.5:n.234+72_234+73insGA
ENST00000372228.9:c.1431+72_1431+73insGA	ENSP00000361302.3:n.1431+72_1431+73insGA
ENST00000402686.8:c.1365+72_1365+73insGA MANE Select	ENSP00000385797.4:n.1365+72_1365+73insGA
ENST00000676640.1:c.1365+72_1365+73insGA	ENSP00000503281.1:n.1365+72_1365+73insGA
ENST00000676803.1:c.540+72_540+73insGA	ENSP00000503093.1:n.540+72_540+73insGA
ENST00000676835.1:c.*580+72_*580+73insGA	ENSP00000502911.1:n.*580+72_*580+73insGA
ENST00000677029.1:c.909+72_909+73insGA	ENSP00000502936.1:n.909+72_909+73insGA
ENST00000677099.1:c.*1075+72_*1075+73insGA	ENSP00000504553.1:n.*1075+72_*1075+73insGA
ENST00000677216.1:c.1014+72_1014+73insGA	ENSP00000503772.1:n.1014+72_1014+73insGA
ENST00000677221.1:n.390+72_390+73insGA
ENST00000677295.1:c.*742+72_*742+73insGA	ENSP00000504346.1:n.*742+72_*742+73insGA
ENST00000677444.1:c.1171+72_1171+73insGA
ENST00000677586.1:n.846+72_846+73insGA
ENST00000677626.1:c.1014+72_1014+73insGA	ENSP00000503552.1:n.1014+72_1014+73insGA
ENST00000677677.1:n.1325+72_1325+73insGA
ENST00000677853.1:c.*373+72_*373+73insGA	ENSP00000503488.1:n.*373+72_*373+73insGA
ENST00000677983.1:n.454+72_454+73insGA
ENST00000678202.1:n.385+72_385+73insGA
ENST00000678264.1:c.*742+72_*742+73insGA	ENSP00000503157.1:n.*742+72_*742+73insGA
ENST00000678303.1:c.1275+72_1275+73insGA	ENSP00000503696.1:n.1275+72_1275+73insGA
ENST00000678366.1:c.*1614+72_*1614+73insGA	ENSP00000504353.1:n.*1614+72_*1614+73insGA
ENST00000678546.1:c.*1310+72_*1310+73insGA	ENSP00000503062.1:n.*1310+72_*1310+73insGA
ENST00000678548.1:c.*1437+72_*1437+73insGA	ENSP00000503934.1:n.*1437+72_*1437+73insGA
ENST00000678626.1:n.1062+72_1062+73insGA
ENST00000678733.1:c.446+72_446+73insGA
ENST00000678739.1:c.*1691+72_*1691+73insGA	ENSP00000503806.1:n.*1691+72_*1691+73insGA
ENST00000678795.1:n.452+72_452+73insGA
ENST00000678833.1:c.*812+72_*812+73insGA	ENSP00000503893.1:n.*812+72_*812+73insGA
ENST00000678942.1:c.545+72_545+73insGA	ENSP00000504690.1:n.545+72_545+73insGA
ENST00000679023.1:c.1203+72_1203+73insGA	ENSP00000503718.1:n.1203+72_1203+73insGA
ENST00000679076.1:c.984+72_984+73insGA
ENST00000679111.1:c.1365+72_1365+73insGA	ENSP00000504257.1:n.1365+72_1365+73insGA
ENST00000679189.1:c.1014+72_1014+73insGA	ENSP00000503356.1:n.1014+72_1014+73insGA
ENST00000341012.11:c.1203+72_1203+73insGA	ENSP00000343034.7:n.1203+72_1203+73insGA
ENST00000372220.4:c.228+72_228+73insGA	ENSP00000361294.4:n.228+72_228+73insGA
ENST00000372228.7:c.1431+72_1431+73insGA	ENSP00000361302.3:n.1431+72_1431+73insGA
ENST00000402686.7:c.1365+72_1365+73insGA	ENSP00000385797.3:n.1365+72_1365+73insGA
ENST00000404875.6:c.1014+72_1014+73insGA	ENSP00000384531.2:n.1014+72_1014+73insGA
ENST00000423007.5:c.1365+72_1365+73insGA	ENSP00000404119.1:n.1365+72_1365+73insGA
ENST00000485278.5:n.1920+72_1920+73insGA
NM_001077365.1:c.1365+72_1365+73insGA	NP_001070833.1:n.1365+72_1365+73insGA
NM_001077366.1:c.1203+72_1203+73insGA	NP_001070834.1:n.1203+72_1203+73insGA
NM_001136113.1:c.1365+72_1365+73insGA	NP_001129585.1:n.1365+72_1365+73insGA
NM_001136114.1:c.1014+72_1014+73insGA	NP_001129586.1:n.1014+72_1014+73insGA
NM_007171.3:c.1431+72_1431+73insGA	NP_009102.3:n.1431+72_1431+73insGA
XM_005272156.1:c.1431+72_1431+73insGA	XP_005272213.1:n.1431+72_1431+73insGA
XM_005272158.1:c.1269+72_1269+73insGA	XP_005272215.1:n.1269+72_1269+73insGA
XM_005272159.1:c.1080+72_1080+73insGA	XP_005272216.1:n.1080+72_1080+73insGA
XM_005272162.1:c.234+72_234+73insGA	XP_005272219.1:n.234+72_234+73insGA
XM_006716932.1:c.1080+72_1080+73insGA	XP_006716995.1:n.1080+72_1080+73insGA
XM_011518140.1:c.1284+72_1284+73insGA	XP_011516442.1:n.1284+72_1284+73insGA
XM_011518141.1:c.1218+72_1218+73insGA	XP_011516443.1:n.1218+72_1218+73insGA
XM_011518142.1:c.1122+72_1122+73insGA	XP_011516444.1:n.1122+72_1122+73insGA
XM_011518143.1:c.1116+72_1116+73insGA	XP_011516445.1:n.1116+72_1116+73insGA
XM_011518144.1:c.1431+72_1431+73insGA	XP_011516446.1:n.1431+72_1431+73insGA
XM_011518145.1:c.975+72_975+73insGA	XP_011516447.1:n.975+72_975+73insGA
XM_011518146.1:c.1116+72_1116+73insGA	XP_011516448.1:n.1116+72_1116+73insGA
XM_011518147.1:c.303+72_303+73insGA	XP_011516449.1:n.303+72_303+73insGA
XR_929703.1:n.1607+72_1607+73insGA
NM_001353193.1:c.1431+72_1431+73insGA	NP_001340122.1:n.1431+72_1431+73insGA
NM_001353194.1:c.1203+72_1203+73insGA	NP_001340123.1:n.1203+72_1203+73insGA
NM_001353195.1:c.1014+72_1014+73insGA	NP_001340124.1:n.1014+72_1014+73insGA
NM_001353196.1:c.1275+72_1275+73insGA	NP_001340125.1:n.1275+72_1275+73insGA
NM_001353197.1:c.1269+72_1269+73insGA	NP_001340126.1:n.1269+72_1269+73insGA
NM_001353198.1:c.1269+72_1269+73insGA	NP_001340127.1:n.1269+72_1269+73insGA
NM_001353199.1:c.1080+72_1080+73insGA	NP_001340128.1:n.1080+72_1080+73insGA
NM_001353200.1:c.909+72_909+73insGA	NP_001340129.1:n.909+72_909+73insGA
NR_148391.1:n.1415+72_1415+73insGA
NR_148392.1:n.1633+72_1633+73insGA
NR_148393.1:n.1415+72_1415+73insGA
NR_148394.1:n.1308+72_1308+73insGA
NR_148395.1:n.1567+72_1567+73insGA
NR_148396.1:n.1201+72_1201+73insGA
NR_148397.1:n.1465+72_1465+73insGA
NR_148398.1:n.1420+72_1420+73insGA
NR_148399.1:n.1807+72_1807+73insGA
NR_148400.1:n.1406+72_1406+73insGA
XM_005272162.3:c.234+72_234+73insGA	XP_005272219.1:n.234+72_234+73insGA
XM_006716932.2:c.1080+72_1080+73insGA	XP_006716995.1:n.1080+72_1080+73insGA
XM_011518140.2:c.1284+72_1284+73insGA	XP_011516442.1:n.1284+72_1284+73insGA
XM_011518141.2:c.1218+72_1218+73insGA	XP_011516443.1:n.1218+72_1218+73insGA
XM_011518142.2:c.1122+72_1122+73insGA	XP_011516444.1:n.1122+72_1122+73insGA
XM_011518143.2:c.1116+72_1116+73insGA	XP_011516445.1:n.1116+72_1116+73insGA
XM_011518145.2:c.975+72_975+73insGA	XP_011516447.1:n.975+72_975+73insGA
XM_017014205.2:c.234+72_234+73insGA	XP_016869694.1:n.234+72_234+73insGA
XM_024447380.1:c.234+72_234+73insGA	XP_024303148.1:n.234+72_234+73insGA
XM_024447381.1:c.540+72_540+73insGA	XP_024303149.1:n.540+72_540+73insGA
XM_024447382.1:c.234+72_234+73insGA	XP_024303150.1:n.234+72_234+73insGA
XR_001746160.2:n.1535+72_1535+73insGA
XR_001746162.2:n.1601+72_1601+73insGA
XR_001746164.1:n.1318+72_1318+73insGA
XR_001746166.2:n.1752+72_1752+73insGA
NM_001077365.2:c.1365+72_1365+73insGA MANE Select	NP_001070833.1:n.1365+72_1365+73insGA
NM_001077366.2:c.1203+72_1203+73insGA	NP_001070834.1:n.1203+72_1203+73insGA
NM_001136113.2:c.1365+72_1365+73insGA	NP_001129585.1:n.1365+72_1365+73insGA
NM_001136114.2:c.1014+72_1014+73insGA	NP_001129586.1:n.1014+72_1014+73insGA
NM_001353193.2:c.1431+72_1431+73insGA	NP_001340122.2:n.1431+72_1431+73insGA
NM_001353194.2:c.1203+72_1203+73insGA	NP_001340123.1:n.1203+72_1203+73insGA
NM_001353195.2:c.1014+72_1014+73insGA	NP_001340124.1:n.1014+72_1014+73insGA
NM_001353196.2:c.1275+72_1275+73insGA	NP_001340125.1:n.1275+72_1275+73insGA
NM_001353197.2:c.1269+72_1269+73insGA	NP_001340126.2:n.1269+72_1269+73insGA
NM_001353198.2:c.1269+72_1269+73insGA	NP_001340127.2:n.1269+72_1269+73insGA
NM_001353199.2:c.1080+72_1080+73insGA	NP_001340128.2:n.1080+72_1080+73insGA
NM_001353200.2:c.909+72_909+73insGA	NP_001340129.1:n.909+72_909+73insGA
NM_001374689.1:c.1353+72_1353+73insGA	NP_001361618.1:n.1353+72_1353+73insGA
NM_001374690.1:c.1365+72_1365+73insGA	NP_001361619.1:n.1365+72_1365+73insGA
NM_001374691.1:c.1014+72_1014+73insGA	NP_001361620.1:n.1014+72_1014+73insGA
NM_001374692.1:c.1014+72_1014+73insGA	NP_001361621.1:n.1014+72_1014+73insGA
NM_001374693.1:c.1014+72_1014+73insGA	NP_001361622.1:n.1014+72_1014+73insGA
NM_001374695.1:c.975+72_975+73insGA	NP_001361624.1:n.975+72_975+73insGA
NM_007171.4:c.1431+72_1431+73insGA	NP_009102.4:n.1431+72_1431+73insGA
NR_148391.2:n.1399+72_1399+73insGA
NR_148392.2:n.1617+72_1617+73insGA
NR_148393.2:n.1399+72_1399+73insGA
NR_148394.2:n.1292+72_1292+73insGA
NR_148395.2:n.1551+72_1551+73insGA
NR_148396.2:n.1185+72_1185+73insGA
NR_148397.2:n.1449+72_1449+73insGA
NR_148398.2:n.1404+72_1404+73insGA
NR_148399.2:n.1791+72_1791+73insGA
NR_148400.2:n.1390+72_1390+73insGA