Canonical Allele Identifier: CA590755613
Gene: POMT1 HGNC NCBI

Linked Data

dbSNP Id: rs1367960201

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131523453_131523454insTTAA , CM000671.2:g.131523453_131523454insTTAA GRCh38
NC_000009.11:g.134398840_134398841insTTAA , CM000671.1:g.134398840_134398841insTTAA GRCh37
NC_000009.10:g.133388661_133388662insTTAA NCBI36
NG_008896.1:g.25552_25553insTTAA
NG_008896.2:g.25552_25553insTTAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.*347_*348insTTAA ENSP00000343034.7:n.*347_*348insTTAA
ENST00000404875.7:n.3065_3066insTTAA
ENST00000677295.2:c.*2869_*2870insTTAA ENSP00000504346.2:n.*2869_*2870insTTAA
ENST00000678264.2:c.*2708_*2709insTTAA ENSP00000503157.2:n.*2708_*2709insTTAA
ENST00000682070.1:n.2835_2836insTTAA
ENST00000682639.1:c.240-10_240-9insTTAA
ENST00000682813.1:n.2922_2923insTTAA
ENST00000683231.1:c.375_376insTTAA
ENST00000683392.1:n.5117_5118insTTAA
ENST00000683900.1:n.4425_4426insTTAA
ENST00000684062.1:n.3191_3192insTTAA
ENST00000684399.1:c.340_341insTTAA
ENST00000684579.1:n.4371_4372insTTAA
ENST00000341012.12:c.*347_*348insTTAA ENSP00000343034.7:n.*347_*348insTTAA
ENST00000372220.5:c.*347_*348insTTAA ENSP00000361294.5:n.*347_*348insTTAA
ENST00000372228.9:c.*347_*348insTTAA ENSP00000361302.3:n.*347_*348insTTAA
ENST00000402686.8:c.*347_*348insTTAA MANE Select ENSP00000385797.4:n.*347_*348insTTAA
ENST00000676640.1:c.*347_*348insTTAA ENSP00000503281.1:n.*347_*348insTTAA
ENST00000676803.1:c.*347_*348insTTAA ENSP00000503093.1:n.*347_*348insTTAA
ENST00000676835.1:c.*1740_*1741insTTAA ENSP00000502911.1:n.*1740_*1741insTTAA
ENST00000677099.1:c.*2235_*2236insTTAA ENSP00000504553.1:n.*2235_*2236insTTAA
ENST00000677295.1:c.*1747_*1748insTTAA ENSP00000504346.1:n.*1747_*1748insTTAA
ENST00000677444.1:c.2470_2471insTTAA
ENST00000677626.1:c.*347_*348insTTAA ENSP00000503552.1:n.*347_*348insTTAA
ENST00000677853.1:c.*1533_*1534insTTAA ENSP00000503488.1:n.*1533_*1534insTTAA
ENST00000678366.1:c.*2774_*2775insTTAA ENSP00000504353.1:n.*2774_*2775insTTAA
ENST00000678546.1:c.*2470_*2471insTTAA ENSP00000503062.1:n.*2470_*2471insTTAA
ENST00000678548.1:c.*2664_*2665insTTAA ENSP00000503934.1:n.*2664_*2665insTTAA
ENST00000678626.1:n.2361_2362insTTAA
ENST00000678739.1:c.*2691_*2692insTTAA ENSP00000503806.1:n.*2691_*2692insTTAA
ENST00000678833.1:c.*2277_*2278insTTAA ENSP00000503893.1:n.*2277_*2278insTTAA
ENST00000679023.1:c.*171_*172insTTAA ENSP00000503718.1:n.*171_*172insTTAA
ENST00000679076.1:c.2144_2145insTTAA
ENST00000679111.1:c.*1281_*1282insTTAA ENSP00000504257.1:n.*1281_*1282insTTAA
ENST00000341012.11:c.*347_*348insTTAA ENSP00000343034.7:n.*347_*348insTTAA
ENST00000372220.4:c.1388_1389insTTAA ENSP00000361294.4:n.1388_1389insTTAA
ENST00000372228.7:c.*347_*348insTTAA ENSP00000361302.3:n.*347_*348insTTAA
ENST00000402686.7:c.*347_*348insTTAA ENSP00000385797.3:n.*347_*348insTTAA
ENST00000404875.6:c.*347_*348insTTAA ENSP00000384531.2:n.*347_*348insTTAA
ENST00000423007.5:c.*347_*348insTTAA ENSP00000404119.1:n.*347_*348insTTAA
ENST00000485278.5:n.3075_3076insTTAA
NM_001077365.1:c.*347_*348insTTAA NP_001070833.1:n.*347_*348insTTAA
NM_001077366.1:c.*347_*348insTTAA NP_001070834.1:n.*347_*348insTTAA
NM_001136113.1:c.*347_*348insTTAA NP_001129585.1:n.*347_*348insTTAA
NM_001136114.1:c.*347_*348insTTAA NP_001129586.1:n.*347_*348insTTAA
NM_007171.3:c.*347_*348insTTAA NP_009102.3:n.*347_*348insTTAA
XM_005272156.1:c.*347_*348insTTAA XP_005272213.1:n.*347_*348insTTAA
XM_005272158.1:c.*347_*348insTTAA XP_005272215.1:n.*347_*348insTTAA
XM_005272159.1:c.*347_*348insTTAA XP_005272216.1:n.*347_*348insTTAA
XM_005272162.1:c.*347_*348insTTAA XP_005272219.1:n.*347_*348insTTAA
XM_006716932.1:c.*347_*348insTTAA XP_006716995.1:n.*347_*348insTTAA
XM_011518140.1:c.*347_*348insTTAA XP_011516442.1:n.*347_*348insTTAA
XM_011518141.1:c.*347_*348insTTAA XP_011516443.1:n.*347_*348insTTAA
XM_011518142.1:c.*347_*348insTTAA XP_011516444.1:n.*347_*348insTTAA
XM_011518143.1:c.*347_*348insTTAA XP_011516445.1:n.*347_*348insTTAA
XM_011518145.1:c.*347_*348insTTAA XP_011516447.1:n.*347_*348insTTAA
XM_011518147.1:c.*347_*348insTTAA XP_011516449.1:n.*347_*348insTTAA
XR_929703.1:n.2591_2592insTTAA
NM_001353193.1:c.*347_*348insTTAA NP_001340122.1:n.*347_*348insTTAA
NM_001353194.1:c.*347_*348insTTAA NP_001340123.1:n.*347_*348insTTAA
NM_001353195.1:c.*347_*348insTTAA NP_001340124.1:n.*347_*348insTTAA
NM_001353196.1:c.*347_*348insTTAA NP_001340125.1:n.*347_*348insTTAA
NM_001353197.1:c.*347_*348insTTAA NP_001340126.1:n.*347_*348insTTAA
NM_001353198.1:c.*347_*348insTTAA NP_001340127.1:n.*347_*348insTTAA
NM_001353199.1:c.*347_*348insTTAA NP_001340128.1:n.*347_*348insTTAA
NM_001353200.1:c.*347_*348insTTAA NP_001340129.1:n.*347_*348insTTAA
NR_148391.1:n.2399_2400insTTAA
NR_148392.1:n.2617_2618insTTAA
NR_148393.1:n.2714_2715insTTAA
NR_148394.1:n.2468_2469insTTAA
NR_148395.1:n.2866_2867insTTAA
NR_148396.1:n.2500_2501insTTAA
NR_148397.1:n.2625_2626insTTAA
NR_148398.1:n.2580_2581insTTAA
NR_148399.1:n.2930_2931insTTAA
NR_148400.1:n.2705_2706insTTAA
XM_005272162.3:c.*347_*348insTTAA XP_005272219.1:n.*347_*348insTTAA
XM_006716932.2:c.*347_*348insTTAA XP_006716995.1:n.*347_*348insTTAA
XM_011518140.2:c.*347_*348insTTAA XP_011516442.1:n.*347_*348insTTAA
XM_011518141.2:c.*347_*348insTTAA XP_011516443.1:n.*347_*348insTTAA
XM_011518142.2:c.*347_*348insTTAA XP_011516444.1:n.*347_*348insTTAA
XM_011518143.2:c.*347_*348insTTAA XP_011516445.1:n.*347_*348insTTAA
XM_011518145.2:c.*347_*348insTTAA XP_011516447.1:n.*347_*348insTTAA
XM_017014205.2:c.*347_*348insTTAA XP_016869694.1:n.*347_*348insTTAA
XM_024447380.1:c.*347_*348insTTAA XP_024303148.1:n.*347_*348insTTAA
XM_024447381.1:c.*347_*348insTTAA XP_024303149.1:n.*347_*348insTTAA
XM_024447382.1:c.*347_*348insTTAA XP_024303150.1:n.*347_*348insTTAA
XR_001746160.2:n.2519_2520insTTAA
XR_001746162.2:n.2900_2901insTTAA
XR_001746164.1:n.2617_2618insTTAA
XR_001746166.2:n.2736_2737insTTAA
NM_001077365.2:c.*347_*348insTTAA MANE Select NP_001070833.1:n.*347_*348insTTAA
NM_001077366.2:c.*347_*348insTTAA NP_001070834.1:n.*347_*348insTTAA
NM_001136113.2:c.*347_*348insTTAA NP_001129585.1:n.*347_*348insTTAA
NM_001136114.2:c.*347_*348insTTAA NP_001129586.1:n.*347_*348insTTAA
NM_001353193.2:c.*347_*348insTTAA NP_001340122.2:n.*347_*348insTTAA
NM_001353194.2:c.*347_*348insTTAA NP_001340123.1:n.*347_*348insTTAA
NM_001353195.2:c.*347_*348insTTAA NP_001340124.1:n.*347_*348insTTAA
NM_001353196.2:c.*347_*348insTTAA NP_001340125.1:n.*347_*348insTTAA
NM_001353197.2:c.*347_*348insTTAA NP_001340126.2:n.*347_*348insTTAA
NM_001353198.2:c.*347_*348insTTAA NP_001340127.2:n.*347_*348insTTAA
NM_001353199.2:c.*347_*348insTTAA NP_001340128.2:n.*347_*348insTTAA
NM_001353200.2:c.*347_*348insTTAA NP_001340129.1:n.*347_*348insTTAA
NM_001374689.1:c.*347_*348insTTAA NP_001361618.1:n.*347_*348insTTAA
NM_001374690.1:c.*347_*348insTTAA NP_001361619.1:n.*347_*348insTTAA
NM_001374691.1:c.*347_*348insTTAA NP_001361620.1:n.*347_*348insTTAA
NM_001374692.1:c.*347_*348insTTAA NP_001361621.1:n.*347_*348insTTAA
NM_001374693.1:c.*347_*348insTTAA NP_001361622.1:n.*347_*348insTTAA
NM_001374695.1:c.*347_*348insTTAA NP_001361624.1:n.*347_*348insTTAA
NM_007171.4:c.*347_*348insTTAA NP_009102.4:n.*347_*348insTTAA
NR_148391.2:n.2383_2384insTTAA
NR_148392.2:n.2601_2602insTTAA
NR_148393.2:n.2698_2699insTTAA
NR_148394.2:n.2452_2453insTTAA
NR_148395.2:n.2850_2851insTTAA
NR_148396.2:n.2484_2485insTTAA
NR_148397.2:n.2609_2610insTTAA
NR_148398.2:n.2564_2565insTTAA
NR_148399.2:n.2914_2915insTTAA
NR_148400.2:n.2689_2690insTTAA