Canonical Allele Identifier: CA1881751227
Gene: POMT1 HGNC NCBI

Linked Data

dbSNP Id: rs1949119631

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131518146_131518147insC , CM000671.2:g.131518146_131518147insC GRCh38
NC_000009.11:g.134393533_134393534insC , CM000671.1:g.134393533_134393534insC GRCh37
NC_000009.10:g.133383354_133383355insC NCBI36
NG_008896.1:g.20245_20246insC
NG_008896.2:g.20245_20246insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1111-299_1111-298insC ENSP00000343034.7:n.1111-299_1111-298insC
ENST00000404875.7:n.1813-299_1813-298insC
ENST00000423007.6:c.1330-299_1330-298insC ENSP00000404119.2:n.1330-299_1330-298insC
ENST00000677295.2:c.*1617-299_*1617-298insC ENSP00000504346.2:n.*1617-299_*1617-298insC
ENST00000678264.2:c.*1456-299_*1456-298insC ENSP00000503157.2:n.*1456-299_*1456-298insC
ENST00000682070.1:n.1738-299_1738-298insC
ENST00000682539.1:c.211-299_211-298insC
ENST00000682813.1:n.1538-299_1538-298insC
ENST00000683392.1:n.4020-299_4020-298insC
ENST00000683712.1:n.1678-299_1678-298insC
ENST00000683900.1:n.3173-299_3173-298insC
ENST00000684062.1:n.1939-299_1939-298insC
ENST00000684579.1:n.3119-299_3119-298insC
ENST00000684679.1:n.500-299_500-298insC
ENST00000341012.12:c.1111-299_1111-298insC ENSP00000343034.7:n.1111-299_1111-298insC
ENST00000372220.5:c.142-299_142-298insC ENSP00000361294.5:n.142-299_142-298insC
ENST00000372228.9:c.1339-299_1339-298insC ENSP00000361302.3:n.1339-299_1339-298insC
ENST00000402686.8:c.1273-299_1273-298insC MANE Select ENSP00000385797.4:n.1273-299_1273-298insC
ENST00000676640.1:c.1273-299_1273-298insC ENSP00000503281.1:n.1273-299_1273-298insC
ENST00000676803.1:c.448-299_448-298insC ENSP00000503093.1:n.448-299_448-298insC
ENST00000676835.1:c.*488-299_*488-298insC ENSP00000502911.1:n.*488-299_*488-298insC
ENST00000677029.1:c.817-299_817-298insC ENSP00000502936.1:n.817-299_817-298insC
ENST00000677099.1:c.*983-299_*983-298insC ENSP00000504553.1:n.*983-299_*983-298insC
ENST00000677216.1:c.922-299_922-298insC ENSP00000503772.1:n.922-299_922-298insC
ENST00000677221.1:n.90_91insC
ENST00000677295.1:c.*650-299_*650-298insC ENSP00000504346.1:n.*650-299_*650-298insC
ENST00000677444.1:c.1079-299_1079-298insC
ENST00000677586.1:n.754-299_754-298insC
ENST00000677626.1:c.922-299_922-298insC ENSP00000503552.1:n.922-299_922-298insC
ENST00000677677.1:n.1233-299_1233-298insC
ENST00000677853.1:c.*281-299_*281-298insC ENSP00000503488.1:n.*281-299_*281-298insC
ENST00000677944.1:c.535-299_535-298insC
ENST00000677983.1:n.154_155insC
ENST00000678202.1:n.147_148insC
ENST00000678264.1:c.*650-299_*650-298insC ENSP00000503157.1:n.*650-299_*650-298insC
ENST00000678303.1:c.1183-299_1183-298insC ENSP00000503696.1:n.1183-299_1183-298insC
ENST00000678366.1:c.*1522-299_*1522-298insC ENSP00000504353.1:n.*1522-299_*1522-298insC
ENST00000678546.1:c.*1218-299_*1218-298insC ENSP00000503062.1:n.*1218-299_*1218-298insC
ENST00000678548.1:c.*1345-299_*1345-298insC ENSP00000503934.1:n.*1345-299_*1345-298insC
ENST00000678626.1:n.970-299_970-298insC
ENST00000678733.1:c.354-299_354-298insC
ENST00000678739.1:c.*1599-299_*1599-298insC ENSP00000503806.1:n.*1599-299_*1599-298insC
ENST00000678795.1:n.360-299_360-298insC
ENST00000678833.1:c.*720-299_*720-298insC ENSP00000503893.1:n.*720-299_*720-298insC
ENST00000678942.1:c.453-299_453-298insC ENSP00000504690.1:n.453-299_453-298insC
ENST00000679023.1:c.1111-299_1111-298insC ENSP00000503718.1:n.1111-299_1111-298insC
ENST00000679076.1:c.892-299_892-298insC
ENST00000679111.1:c.1273-299_1273-298insC ENSP00000504257.1:n.1273-299_1273-298insC
ENST00000679189.1:c.922-299_922-298insC ENSP00000503356.1:n.922-299_922-298insC
ENST00000341012.11:c.1111-299_1111-298insC ENSP00000343034.7:n.1111-299_1111-298insC
ENST00000372228.7:c.1339-299_1339-298insC ENSP00000361302.3:n.1339-299_1339-298insC
ENST00000402686.7:c.1273-299_1273-298insC ENSP00000385797.3:n.1273-299_1273-298insC
ENST00000404875.6:c.922-299_922-298insC ENSP00000384531.2:n.922-299_922-298insC
ENST00000423007.5:c.1273-299_1273-298insC ENSP00000404119.1:n.1273-299_1273-298insC
ENST00000485278.5:n.1828-299_1828-298insC
NM_001077365.1:c.1273-299_1273-298insC NP_001070833.1:n.1273-299_1273-298insC
NM_001077366.1:c.1111-299_1111-298insC NP_001070834.1:n.1111-299_1111-298insC
NM_001136113.1:c.1273-299_1273-298insC NP_001129585.1:n.1273-299_1273-298insC
NM_001136114.1:c.922-299_922-298insC NP_001129586.1:n.922-299_922-298insC
NM_007171.3:c.1339-299_1339-298insC NP_009102.3:n.1339-299_1339-298insC
XM_005272156.1:c.1339-299_1339-298insC XP_005272213.1:n.1339-299_1339-298insC
XM_005272158.1:c.1177-299_1177-298insC XP_005272215.1:n.1177-299_1177-298insC
XM_005272159.1:c.988-299_988-298insC XP_005272216.1:n.988-299_988-298insC
XM_005272162.1:c.142-299_142-298insC XP_005272219.1:n.142-299_142-298insC
XM_006716932.1:c.988-299_988-298insC XP_006716995.1:n.988-299_988-298insC
XM_011518140.1:c.1192-299_1192-298insC XP_011516442.1:n.1192-299_1192-298insC
XM_011518141.1:c.1126-299_1126-298insC XP_011516443.1:n.1126-299_1126-298insC
XM_011518142.1:c.1030-299_1030-298insC XP_011516444.1:n.1030-299_1030-298insC
XM_011518143.1:c.1024-299_1024-298insC XP_011516445.1:n.1024-299_1024-298insC
XM_011518144.1:c.1339-299_1339-298insC XP_011516446.1:n.1339-299_1339-298insC
XM_011518145.1:c.883-299_883-298insC XP_011516447.1:n.883-299_883-298insC
XM_011518146.1:c.1024-299_1024-298insC XP_011516448.1:n.1024-299_1024-298insC
XM_011518147.1:c.3_4insC XP_011516449.1:p.Asn2GlnfsTer2
XR_929703.1:n.1515-299_1515-298insC
NM_001353193.1:c.1339-299_1339-298insC NP_001340122.1:n.1339-299_1339-298insC
NM_001353194.1:c.1111-299_1111-298insC NP_001340123.1:n.1111-299_1111-298insC
NM_001353195.1:c.922-299_922-298insC NP_001340124.1:n.922-299_922-298insC
NM_001353196.1:c.1183-299_1183-298insC NP_001340125.1:n.1183-299_1183-298insC
NM_001353197.1:c.1177-299_1177-298insC NP_001340126.1:n.1177-299_1177-298insC
NM_001353198.1:c.1177-299_1177-298insC NP_001340127.1:n.1177-299_1177-298insC
NM_001353199.1:c.988-299_988-298insC NP_001340128.1:n.988-299_988-298insC
NM_001353200.1:c.817-299_817-298insC NP_001340129.1:n.817-299_817-298insC
NR_148391.1:n.1323-299_1323-298insC
NR_148392.1:n.1541-299_1541-298insC
NR_148393.1:n.1323-299_1323-298insC
NR_148394.1:n.1216-299_1216-298insC
NR_148395.1:n.1475-299_1475-298insC
NR_148396.1:n.1109-299_1109-298insC
NR_148397.1:n.1373-299_1373-298insC
NR_148398.1:n.1328-299_1328-298insC
NR_148399.1:n.1715-299_1715-298insC
NR_148400.1:n.1314-299_1314-298insC
XM_005272162.3:c.142-299_142-298insC XP_005272219.1:n.142-299_142-298insC
XM_006716932.2:c.988-299_988-298insC XP_006716995.1:n.988-299_988-298insC
XM_011518140.2:c.1192-299_1192-298insC XP_011516442.1:n.1192-299_1192-298insC
XM_011518141.2:c.1126-299_1126-298insC XP_011516443.1:n.1126-299_1126-298insC
XM_011518142.2:c.1030-299_1030-298insC XP_011516444.1:n.1030-299_1030-298insC
XM_011518143.2:c.1024-299_1024-298insC XP_011516445.1:n.1024-299_1024-298insC
XM_011518145.2:c.883-299_883-298insC XP_011516447.1:n.883-299_883-298insC
XM_017014205.2:c.142-299_142-298insC XP_016869694.1:n.142-299_142-298insC
XM_024447380.1:c.142-299_142-298insC XP_024303148.1:n.142-299_142-298insC
XM_024447381.1:c.448-299_448-298insC XP_024303149.1:n.448-299_448-298insC
XM_024447382.1:c.142-299_142-298insC XP_024303150.1:n.142-299_142-298insC
XR_001746160.2:n.1443-299_1443-298insC
XR_001746162.2:n.1509-299_1509-298insC
XR_001746164.1:n.1226-299_1226-298insC
XR_001746166.2:n.1660-299_1660-298insC
XR_930402.2:n.292_293insG
NM_001077365.2:c.1273-299_1273-298insC MANE Select NP_001070833.1:n.1273-299_1273-298insC
NM_001077366.2:c.1111-299_1111-298insC NP_001070834.1:n.1111-299_1111-298insC
NM_001136113.2:c.1273-299_1273-298insC NP_001129585.1:n.1273-299_1273-298insC
NM_001136114.2:c.922-299_922-298insC NP_001129586.1:n.922-299_922-298insC
NM_001353193.2:c.1339-299_1339-298insC NP_001340122.2:n.1339-299_1339-298insC
NM_001353194.2:c.1111-299_1111-298insC NP_001340123.1:n.1111-299_1111-298insC
NM_001353195.2:c.922-299_922-298insC NP_001340124.1:n.922-299_922-298insC
NM_001353196.2:c.1183-299_1183-298insC NP_001340125.1:n.1183-299_1183-298insC
NM_001353197.2:c.1177-299_1177-298insC NP_001340126.2:n.1177-299_1177-298insC
NM_001353198.2:c.1177-299_1177-298insC NP_001340127.2:n.1177-299_1177-298insC
NM_001353199.2:c.988-299_988-298insC NP_001340128.2:n.988-299_988-298insC
NM_001353200.2:c.817-299_817-298insC NP_001340129.1:n.817-299_817-298insC
NM_001374689.1:c.1261-299_1261-298insC NP_001361618.1:n.1261-299_1261-298insC
NM_001374690.1:c.1273-299_1273-298insC NP_001361619.1:n.1273-299_1273-298insC
NM_001374691.1:c.922-299_922-298insC NP_001361620.1:n.922-299_922-298insC
NM_001374692.1:c.922-299_922-298insC NP_001361621.1:n.922-299_922-298insC
NM_001374693.1:c.922-299_922-298insC NP_001361622.1:n.922-299_922-298insC
NM_001374695.1:c.883-299_883-298insC NP_001361624.1:n.883-299_883-298insC
NM_007171.4:c.1339-299_1339-298insC NP_009102.4:n.1339-299_1339-298insC
NR_148391.2:n.1307-299_1307-298insC
NR_148392.2:n.1525-299_1525-298insC
NR_148393.2:n.1307-299_1307-298insC
NR_148394.2:n.1200-299_1200-298insC
NR_148395.2:n.1459-299_1459-298insC
NR_148396.2:n.1093-299_1093-298insC
NR_148397.2:n.1357-299_1357-298insC
NR_148398.2:n.1312-299_1312-298insC
NR_148399.2:n.1699-299_1699-298insC
NR_148400.2:n.1298-299_1298-298insC