Canonical Allele Identifier: CA860555162
Gene: POMT1 HGNC NCBI

Linked Data

dbSNP Id: rs1213293360
gnomAD v3: 9-131518006-C-CTT
gnomAD v4: 9-131518006-C-CTT
MyVariant Identifiers: chr9:g.134393393_134393394insTT (hg19) chr9:g.131518006_131518007insTT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131518011_131518012dup , CM000671.2:g.131518011_131518012dup GRCh38
NC_000009.11:g.134393398_134393399dup , CM000671.1:g.134393398_134393399dup GRCh37
NC_000009.10:g.133383219_133383220dup NCBI36
NG_008896.1:g.20110_20111dup
NG_008896.2:g.20110_20111dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1111-434_1111-433dup ENSP00000343034.7:n.1111-434_1111-433dup
ENST00000404875.7:n.1813-434_1813-433dup
ENST00000423007.6:c.1330-434_1330-433dup ENSP00000404119.2:n.1330-434_1330-433dup
ENST00000677295.2:c.*1617-434_*1617-433dup ENSP00000504346.2:n.*1617-434_*1617-433dup
ENST00000678264.2:c.*1456-434_*1456-433dup ENSP00000503157.2:n.*1456-434_*1456-433dup
ENST00000682070.1:n.1738-434_1738-433dup
ENST00000682539.1:c.211-434_211-433dup
ENST00000682813.1:n.1538-434_1538-433dup
ENST00000683392.1:n.4020-434_4020-433dup
ENST00000683712.1:n.1678-434_1678-433dup
ENST00000683900.1:n.3173-434_3173-433dup
ENST00000684062.1:n.1939-434_1939-433dup
ENST00000684579.1:n.3119-434_3119-433dup
ENST00000684679.1:n.500-434_500-433dup
ENST00000341012.12:c.1111-434_1111-433dup ENSP00000343034.7:n.1111-434_1111-433dup
ENST00000372220.5:c.142-434_142-433dup ENSP00000361294.5:n.142-434_142-433dup
ENST00000372228.9:c.1339-434_1339-433dup ENSP00000361302.3:n.1339-434_1339-433dup
ENST00000402686.8:c.1273-434_1273-433dup MANE Select ENSP00000385797.4:n.1273-434_1273-433dup
ENST00000676640.1:c.1273-434_1273-433dup ENSP00000503281.1:n.1273-434_1273-433dup
ENST00000676803.1:c.448-434_448-433dup ENSP00000503093.1:n.448-434_448-433dup
ENST00000676835.1:c.*488-434_*488-433dup ENSP00000502911.1:n.*488-434_*488-433dup
ENST00000677029.1:c.817-434_817-433dup ENSP00000502936.1:n.817-434_817-433dup
ENST00000677099.1:c.*983-434_*983-433dup ENSP00000504553.1:n.*983-434_*983-433dup
ENST00000677216.1:c.922-434_922-433dup ENSP00000503772.1:n.922-434_922-433dup
ENST00000677295.1:c.*650-434_*650-433dup ENSP00000504346.1:n.*650-434_*650-433dup
ENST00000677444.1:c.1079-434_1079-433dup
ENST00000677586.1:n.754-434_754-433dup
ENST00000677626.1:c.922-434_922-433dup ENSP00000503552.1:n.922-434_922-433dup
ENST00000677677.1:n.1233-434_1233-433dup
ENST00000677853.1:c.*281-434_*281-433dup ENSP00000503488.1:n.*281-434_*281-433dup
ENST00000677944.1:c.535-434_535-433dup
ENST00000677983.1:n.19_20dup
ENST00000678202.1:n.12_13dup
ENST00000678264.1:c.*650-434_*650-433dup ENSP00000503157.1:n.*650-434_*650-433dup
ENST00000678303.1:c.1183-434_1183-433dup ENSP00000503696.1:n.1183-434_1183-433dup
ENST00000678366.1:c.*1522-434_*1522-433dup ENSP00000504353.1:n.*1522-434_*1522-433dup
ENST00000678546.1:c.*1218-434_*1218-433dup ENSP00000503062.1:n.*1218-434_*1218-433dup
ENST00000678548.1:c.*1345-434_*1345-433dup ENSP00000503934.1:n.*1345-434_*1345-433dup
ENST00000678626.1:n.970-434_970-433dup
ENST00000678733.1:c.354-434_354-433dup
ENST00000678739.1:c.*1599-434_*1599-433dup ENSP00000503806.1:n.*1599-434_*1599-433dup
ENST00000678795.1:n.360-434_360-433dup
ENST00000678833.1:c.*720-434_*720-433dup ENSP00000503893.1:n.*720-434_*720-433dup
ENST00000678942.1:c.453-434_453-433dup ENSP00000504690.1:n.453-434_453-433dup
ENST00000679023.1:c.1111-434_1111-433dup ENSP00000503718.1:n.1111-434_1111-433dup
ENST00000679076.1:c.892-434_892-433dup
ENST00000679111.1:c.1273-434_1273-433dup ENSP00000504257.1:n.1273-434_1273-433dup
ENST00000679189.1:c.922-434_922-433dup ENSP00000503356.1:n.922-434_922-433dup
ENST00000341012.11:c.1111-434_1111-433dup ENSP00000343034.7:n.1111-434_1111-433dup
ENST00000372228.7:c.1339-434_1339-433dup ENSP00000361302.3:n.1339-434_1339-433dup
ENST00000402686.7:c.1273-434_1273-433dup ENSP00000385797.3:n.1273-434_1273-433dup
ENST00000404875.6:c.922-434_922-433dup ENSP00000384531.2:n.922-434_922-433dup
ENST00000423007.5:c.1273-434_1273-433dup ENSP00000404119.1:n.1273-434_1273-433dup
ENST00000485278.5:n.1828-434_1828-433dup
NM_001077365.1:c.1273-434_1273-433dup NP_001070833.1:n.1273-434_1273-433dup
NM_001077366.1:c.1111-434_1111-433dup NP_001070834.1:n.1111-434_1111-433dup
NM_001136113.1:c.1273-434_1273-433dup NP_001129585.1:n.1273-434_1273-433dup
NM_001136114.1:c.922-434_922-433dup NP_001129586.1:n.922-434_922-433dup
NM_007171.3:c.1339-434_1339-433dup NP_009102.3:n.1339-434_1339-433dup
XM_005272156.1:c.1339-434_1339-433dup XP_005272213.1:n.1339-434_1339-433dup
XM_005272158.1:c.1177-434_1177-433dup XP_005272215.1:n.1177-434_1177-433dup
XM_005272159.1:c.988-434_988-433dup XP_005272216.1:n.988-434_988-433dup
XM_005272162.1:c.142-434_142-433dup XP_005272219.1:n.142-434_142-433dup
XM_006716932.1:c.988-434_988-433dup XP_006716995.1:n.988-434_988-433dup
XM_011518140.1:c.1192-434_1192-433dup XP_011516442.1:n.1192-434_1192-433dup
XM_011518141.1:c.1126-434_1126-433dup XP_011516443.1:n.1126-434_1126-433dup
XM_011518142.1:c.1030-434_1030-433dup XP_011516444.1:n.1030-434_1030-433dup
XM_011518143.1:c.1024-434_1024-433dup XP_011516445.1:n.1024-434_1024-433dup
XM_011518144.1:c.1339-434_1339-433dup XP_011516446.1:n.1339-434_1339-433dup
XM_011518145.1:c.883-434_883-433dup XP_011516447.1:n.883-434_883-433dup
XM_011518146.1:c.1024-434_1024-433dup XP_011516448.1:n.1024-434_1024-433dup
XR_929703.1:n.1515-434_1515-433dup
NM_001353193.1:c.1339-434_1339-433dup NP_001340122.1:n.1339-434_1339-433dup
NM_001353194.1:c.1111-434_1111-433dup NP_001340123.1:n.1111-434_1111-433dup
NM_001353195.1:c.922-434_922-433dup NP_001340124.1:n.922-434_922-433dup
NM_001353196.1:c.1183-434_1183-433dup NP_001340125.1:n.1183-434_1183-433dup
NM_001353197.1:c.1177-434_1177-433dup NP_001340126.1:n.1177-434_1177-433dup
NM_001353198.1:c.1177-434_1177-433dup NP_001340127.1:n.1177-434_1177-433dup
NM_001353199.1:c.988-434_988-433dup NP_001340128.1:n.988-434_988-433dup
NM_001353200.1:c.817-434_817-433dup NP_001340129.1:n.817-434_817-433dup
NR_148391.1:n.1323-434_1323-433dup
NR_148392.1:n.1541-434_1541-433dup
NR_148393.1:n.1323-434_1323-433dup
NR_148394.1:n.1216-434_1216-433dup
NR_148395.1:n.1475-434_1475-433dup
NR_148396.1:n.1109-434_1109-433dup
NR_148397.1:n.1373-434_1373-433dup
NR_148398.1:n.1328-434_1328-433dup
NR_148399.1:n.1715-434_1715-433dup
NR_148400.1:n.1314-434_1314-433dup
XM_005272162.3:c.142-434_142-433dup XP_005272219.1:n.142-434_142-433dup
XM_006716932.2:c.988-434_988-433dup XP_006716995.1:n.988-434_988-433dup
XM_011518140.2:c.1192-434_1192-433dup XP_011516442.1:n.1192-434_1192-433dup
XM_011518141.2:c.1126-434_1126-433dup XP_011516443.1:n.1126-434_1126-433dup
XM_011518142.2:c.1030-434_1030-433dup XP_011516444.1:n.1030-434_1030-433dup
XM_011518143.2:c.1024-434_1024-433dup XP_011516445.1:n.1024-434_1024-433dup
XM_011518145.2:c.883-434_883-433dup XP_011516447.1:n.883-434_883-433dup
XM_017014205.2:c.142-434_142-433dup XP_016869694.1:n.142-434_142-433dup
XM_024447380.1:c.142-434_142-433dup XP_024303148.1:n.142-434_142-433dup
XM_024447381.1:c.448-434_448-433dup XP_024303149.1:n.448-434_448-433dup
XM_024447382.1:c.142-434_142-433dup XP_024303150.1:n.142-434_142-433dup
XR_001746160.2:n.1443-434_1443-433dup
XR_001746162.2:n.1509-434_1509-433dup
XR_001746164.1:n.1226-434_1226-433dup
XR_001746166.2:n.1660-434_1660-433dup
XR_930402.2:n.431_432dup
NM_001077365.2:c.1273-434_1273-433dup MANE Select NP_001070833.1:n.1273-434_1273-433dup
NM_001077366.2:c.1111-434_1111-433dup NP_001070834.1:n.1111-434_1111-433dup
NM_001136113.2:c.1273-434_1273-433dup NP_001129585.1:n.1273-434_1273-433dup
NM_001136114.2:c.922-434_922-433dup NP_001129586.1:n.922-434_922-433dup
NM_001353193.2:c.1339-434_1339-433dup NP_001340122.2:n.1339-434_1339-433dup
NM_001353194.2:c.1111-434_1111-433dup NP_001340123.1:n.1111-434_1111-433dup
NM_001353195.2:c.922-434_922-433dup NP_001340124.1:n.922-434_922-433dup
NM_001353196.2:c.1183-434_1183-433dup NP_001340125.1:n.1183-434_1183-433dup
NM_001353197.2:c.1177-434_1177-433dup NP_001340126.2:n.1177-434_1177-433dup
NM_001353198.2:c.1177-434_1177-433dup NP_001340127.2:n.1177-434_1177-433dup
NM_001353199.2:c.988-434_988-433dup NP_001340128.2:n.988-434_988-433dup
NM_001353200.2:c.817-434_817-433dup NP_001340129.1:n.817-434_817-433dup
NM_001374689.1:c.1261-434_1261-433dup NP_001361618.1:n.1261-434_1261-433dup
NM_001374690.1:c.1273-434_1273-433dup NP_001361619.1:n.1273-434_1273-433dup
NM_001374691.1:c.922-434_922-433dup NP_001361620.1:n.922-434_922-433dup
NM_001374692.1:c.922-434_922-433dup NP_001361621.1:n.922-434_922-433dup
NM_001374693.1:c.922-434_922-433dup NP_001361622.1:n.922-434_922-433dup
NM_001374695.1:c.883-434_883-433dup NP_001361624.1:n.883-434_883-433dup
NM_007171.4:c.1339-434_1339-433dup NP_009102.4:n.1339-434_1339-433dup
NR_148391.2:n.1307-434_1307-433dup
NR_148392.2:n.1525-434_1525-433dup
NR_148393.2:n.1307-434_1307-433dup
NR_148394.2:n.1200-434_1200-433dup
NR_148395.2:n.1459-434_1459-433dup
NR_148396.2:n.1093-434_1093-433dup
NR_148397.2:n.1357-434_1357-433dup
NR_148398.2:n.1312-434_1312-433dup
NR_148399.2:n.1699-434_1699-433dup
NR_148400.2:n.1298-434_1298-433dup
Search 100 bp 5'
Search 100 bp 3'