Canonical Allele Identifier: CA2692222499
Gene: POMT1 HGNC NCBI

Linked Data

gnomAD v4: 9-131523313-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131523313T>C , CM000671.2:g.131523313T>C GRCh38
NC_000009.11:g.134398700T>C , CM000671.1:g.134398700T>C GRCh37
NC_000009.10:g.133388521T>C NCBI36
NG_008896.1:g.25412T>C
NG_008896.2:g.25412T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000341012.13:c.*207T>C ENSP00000343034.7:n.*207T>C
ENST00000404875.7:n.2925T>C
ENST00000677295.2:c.*2729T>C ENSP00000504346.2:n.*2729T>C
ENST00000678264.2:c.*2568T>C ENSP00000503157.2:n.*2568T>C
ENST00000682070.1:n.2695T>C
ENST00000682639.1:c.239+143T>C
ENST00000682813.1:n.2782T>C
ENST00000683231.1:c.240-5T>C
ENST00000683392.1:n.4977T>C
ENST00000683900.1:n.4285T>C
ENST00000684062.1:n.3051T>C
ENST00000684399.1:c.240-40T>C
ENST00000684579.1:n.4231T>C
ENST00000341012.12:c.*207T>C ENSP00000343034.7:n.*207T>C
ENST00000372220.5:c.*207T>C ENSP00000361294.5:n.*207T>C
ENST00000372228.9:c.*207T>C ENSP00000361302.3:n.*207T>C
ENST00000402686.8:c.*207T>C MANE Select ENSP00000385797.4:n.*207T>C
ENST00000676640.1:c.*207T>C ENSP00000503281.1:n.*207T>C
ENST00000676803.1:c.*207T>C ENSP00000503093.1:n.*207T>C
ENST00000676835.1:c.*1600T>C ENSP00000502911.1:n.*1600T>C
ENST00000677029.1:c.*207T>C ENSP00000502936.1:n.*207T>C
ENST00000677099.1:c.*2095T>C ENSP00000504553.1:n.*2095T>C
ENST00000677216.1:c.*207T>C ENSP00000503772.1:n.*207T>C
ENST00000677295.1:c.*1607T>C ENSP00000504346.1:n.*1607T>C
ENST00000677444.1:c.2330T>C
ENST00000677626.1:c.*207T>C ENSP00000503552.1:n.*207T>C
ENST00000677853.1:c.*1393T>C ENSP00000503488.1:n.*1393T>C
ENST00000678303.1:c.*207T>C ENSP00000503696.1:n.*207T>C
ENST00000678366.1:c.*2634T>C ENSP00000504353.1:n.*2634T>C
ENST00000678546.1:c.*2330T>C ENSP00000503062.1:n.*2330T>C
ENST00000678548.1:c.*2524T>C ENSP00000503934.1:n.*2524T>C
ENST00000678626.1:n.2221T>C
ENST00000678739.1:c.*2551T>C ENSP00000503806.1:n.*2551T>C
ENST00000678833.1:c.*2137T>C ENSP00000503893.1:n.*2137T>C
ENST00000679023.1:c.*65-34T>C ENSP00000503718.1:n.*65-34T>C
ENST00000679076.1:c.2004T>C
ENST00000679111.1:c.*1141T>C ENSP00000504257.1:n.*1141T>C
ENST00000341012.11:c.*207T>C ENSP00000343034.7:n.*207T>C
ENST00000372220.4:c.1248T>C ENSP00000361294.4:n.1248T>C
ENST00000372228.7:c.*207T>C ENSP00000361302.3:n.*207T>C
ENST00000402686.7:c.*207T>C ENSP00000385797.3:n.*207T>C
ENST00000404875.6:c.*207T>C ENSP00000384531.2:n.*207T>C
ENST00000423007.5:c.*207T>C ENSP00000404119.1:n.*207T>C
ENST00000485278.5:n.2935T>C
NM_001077365.1:c.*207T>C NP_001070833.1:n.*207T>C
NM_001077366.1:c.*207T>C NP_001070834.1:n.*207T>C
NM_001136113.1:c.*207T>C NP_001129585.1:n.*207T>C
NM_001136114.1:c.*207T>C NP_001129586.1:n.*207T>C
NM_007171.3:c.*207T>C NP_009102.3:n.*207T>C
XM_005272156.1:c.*207T>C XP_005272213.1:n.*207T>C
XM_005272158.1:c.*207T>C XP_005272215.1:n.*207T>C
XM_005272159.1:c.*207T>C XP_005272216.1:n.*207T>C
XM_005272162.1:c.*207T>C XP_005272219.1:n.*207T>C
XM_006716932.1:c.*207T>C XP_006716995.1:n.*207T>C
XM_011518140.1:c.*207T>C XP_011516442.1:n.*207T>C
XM_011518141.1:c.*207T>C XP_011516443.1:n.*207T>C
XM_011518142.1:c.*207T>C XP_011516444.1:n.*207T>C
XM_011518143.1:c.*207T>C XP_011516445.1:n.*207T>C
XM_011518145.1:c.*207T>C XP_011516447.1:n.*207T>C
XM_011518147.1:c.*207T>C XP_011516449.1:n.*207T>C
XR_929703.1:n.2485-34T>C
NM_001353193.1:c.*207T>C NP_001340122.1:n.*207T>C
NM_001353194.1:c.*207T>C NP_001340123.1:n.*207T>C
NM_001353195.1:c.*207T>C NP_001340124.1:n.*207T>C
NM_001353196.1:c.*207T>C NP_001340125.1:n.*207T>C
NM_001353197.1:c.*207T>C NP_001340126.1:n.*207T>C
NM_001353198.1:c.*207T>C NP_001340127.1:n.*207T>C
NM_001353199.1:c.*207T>C NP_001340128.1:n.*207T>C
NM_001353200.1:c.*207T>C NP_001340129.1:n.*207T>C
NR_148391.1:n.2293-34T>C
NR_148392.1:n.2511-34T>C
NR_148393.1:n.2574T>C
NR_148394.1:n.2328T>C
NR_148395.1:n.2726T>C
NR_148396.1:n.2360T>C
NR_148397.1:n.2485T>C
NR_148398.1:n.2440T>C
NR_148399.1:n.2824-34T>C
NR_148400.1:n.2565T>C
XM_005272162.3:c.*207T>C XP_005272219.1:n.*207T>C
XM_006716932.2:c.*207T>C XP_006716995.1:n.*207T>C
XM_011518140.2:c.*207T>C XP_011516442.1:n.*207T>C
XM_011518141.2:c.*207T>C XP_011516443.1:n.*207T>C
XM_011518142.2:c.*207T>C XP_011516444.1:n.*207T>C
XM_011518143.2:c.*207T>C XP_011516445.1:n.*207T>C
XM_011518145.2:c.*207T>C XP_011516447.1:n.*207T>C
XM_017014205.2:c.*207T>C XP_016869694.1:n.*207T>C
XM_024447380.1:c.*207T>C XP_024303148.1:n.*207T>C
XM_024447381.1:c.*207T>C XP_024303149.1:n.*207T>C
XM_024447382.1:c.*207T>C XP_024303150.1:n.*207T>C
XR_001746160.2:n.2413-34T>C
XR_001746162.2:n.2760T>C
XR_001746164.1:n.2477T>C
XR_001746166.2:n.2630-34T>C
NM_001077365.2:c.*207T>C MANE Select NP_001070833.1:n.*207T>C
NM_001077366.2:c.*207T>C NP_001070834.1:n.*207T>C
NM_001136113.2:c.*207T>C NP_001129585.1:n.*207T>C
NM_001136114.2:c.*207T>C NP_001129586.1:n.*207T>C
NM_001353193.2:c.*207T>C NP_001340122.2:n.*207T>C
NM_001353194.2:c.*207T>C NP_001340123.1:n.*207T>C
NM_001353195.2:c.*207T>C NP_001340124.1:n.*207T>C
NM_001353196.2:c.*207T>C NP_001340125.1:n.*207T>C
NM_001353197.2:c.*207T>C NP_001340126.2:n.*207T>C
NM_001353198.2:c.*207T>C NP_001340127.2:n.*207T>C
NM_001353199.2:c.*207T>C NP_001340128.2:n.*207T>C
NM_001353200.2:c.*207T>C NP_001340129.1:n.*207T>C
NM_001374689.1:c.*207T>C NP_001361618.1:n.*207T>C
NM_001374690.1:c.*207T>C NP_001361619.1:n.*207T>C
NM_001374691.1:c.*207T>C NP_001361620.1:n.*207T>C
NM_001374692.1:c.*207T>C NP_001361621.1:n.*207T>C
NM_001374693.1:c.*207T>C NP_001361622.1:n.*207T>C
NM_001374695.1:c.*207T>C NP_001361624.1:n.*207T>C
NM_007171.4:c.*207T>C NP_009102.4:n.*207T>C
NR_148391.2:n.2277-34T>C
NR_148392.2:n.2495-34T>C
NR_148393.2:n.2558T>C
NR_148394.2:n.2312T>C
NR_148395.2:n.2710T>C
NR_148396.2:n.2344T>C
NR_148397.2:n.2469T>C
NR_148398.2:n.2424T>C
NR_148399.2:n.2808-34T>C
NR_148400.2:n.2549T>C
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