Canonical Allele Identifier: CA2692223109
Gene: POMT1 HGNC NCBI

Linked Data

gnomAD v4: 9-131523411-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131523411C>A , CM000671.2:g.131523411C>A GRCh38
NC_000009.11:g.134398798C>A , CM000671.1:g.134398798C>A GRCh37
NC_000009.10:g.133388619C>A NCBI36
NG_008896.1:g.25510C>A
NG_008896.2:g.25510C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000341012.13:c.*305C>A ENSP00000343034.7:n.*305C>A
ENST00000404875.7:n.3023C>A
ENST00000677295.2:c.*2827C>A ENSP00000504346.2:n.*2827C>A
ENST00000678264.2:c.*2666C>A ENSP00000503157.2:n.*2666C>A
ENST00000682070.1:n.2793C>A
ENST00000682639.1:c.240-52C>A
ENST00000682813.1:n.2880C>A
ENST00000683231.1:c.333C>A
ENST00000683392.1:n.5075C>A
ENST00000683900.1:n.4383C>A
ENST00000684062.1:n.3149C>A
ENST00000684399.1:c.298C>A
ENST00000684579.1:n.4329C>A
ENST00000341012.12:c.*305C>A ENSP00000343034.7:n.*305C>A
ENST00000372220.5:c.*305C>A ENSP00000361294.5:n.*305C>A
ENST00000372228.9:c.*305C>A ENSP00000361302.3:n.*305C>A
ENST00000402686.8:c.*305C>A MANE Select ENSP00000385797.4:n.*305C>A
ENST00000676640.1:c.*305C>A ENSP00000503281.1:n.*305C>A
ENST00000676803.1:c.*305C>A ENSP00000503093.1:n.*305C>A
ENST00000676835.1:c.*1698C>A ENSP00000502911.1:n.*1698C>A
ENST00000677099.1:c.*2193C>A ENSP00000504553.1:n.*2193C>A
ENST00000677216.1:c.*305C>A ENSP00000503772.1:n.*305C>A
ENST00000677295.1:c.*1705C>A ENSP00000504346.1:n.*1705C>A
ENST00000677444.1:c.2428C>A
ENST00000677626.1:c.*305C>A ENSP00000503552.1:n.*305C>A
ENST00000677853.1:c.*1491C>A ENSP00000503488.1:n.*1491C>A
ENST00000678303.1:c.*305C>A ENSP00000503696.1:n.*305C>A
ENST00000678366.1:c.*2732C>A ENSP00000504353.1:n.*2732C>A
ENST00000678546.1:c.*2428C>A ENSP00000503062.1:n.*2428C>A
ENST00000678548.1:c.*2622C>A ENSP00000503934.1:n.*2622C>A
ENST00000678626.1:n.2319C>A
ENST00000678739.1:c.*2649C>A ENSP00000503806.1:n.*2649C>A
ENST00000678833.1:c.*2235C>A ENSP00000503893.1:n.*2235C>A
ENST00000679023.1:c.*129C>A ENSP00000503718.1:n.*129C>A
ENST00000679076.1:c.2102C>A
ENST00000679111.1:c.*1239C>A ENSP00000504257.1:n.*1239C>A
ENST00000341012.11:c.*305C>A ENSP00000343034.7:n.*305C>A
ENST00000372220.4:c.1346C>A ENSP00000361294.4:n.1346C>A
ENST00000372228.7:c.*305C>A ENSP00000361302.3:n.*305C>A
ENST00000402686.7:c.*305C>A ENSP00000385797.3:n.*305C>A
ENST00000404875.6:c.*305C>A ENSP00000384531.2:n.*305C>A
ENST00000423007.5:c.*305C>A ENSP00000404119.1:n.*305C>A
ENST00000485278.5:n.3033C>A
NM_001077365.1:c.*305C>A NP_001070833.1:n.*305C>A
NM_001077366.1:c.*305C>A NP_001070834.1:n.*305C>A
NM_001136113.1:c.*305C>A NP_001129585.1:n.*305C>A
NM_001136114.1:c.*305C>A NP_001129586.1:n.*305C>A
NM_007171.3:c.*305C>A NP_009102.3:n.*305C>A
XM_005272156.1:c.*305C>A XP_005272213.1:n.*305C>A
XM_005272158.1:c.*305C>A XP_005272215.1:n.*305C>A
XM_005272159.1:c.*305C>A XP_005272216.1:n.*305C>A
XM_005272162.1:c.*305C>A XP_005272219.1:n.*305C>A
XM_006716932.1:c.*305C>A XP_006716995.1:n.*305C>A
XM_011518140.1:c.*305C>A XP_011516442.1:n.*305C>A
XM_011518141.1:c.*305C>A XP_011516443.1:n.*305C>A
XM_011518142.1:c.*305C>A XP_011516444.1:n.*305C>A
XM_011518143.1:c.*305C>A XP_011516445.1:n.*305C>A
XM_011518145.1:c.*305C>A XP_011516447.1:n.*305C>A
XM_011518147.1:c.*305C>A XP_011516449.1:n.*305C>A
XR_929703.1:n.2549C>A
NM_001353193.1:c.*305C>A NP_001340122.1:n.*305C>A
NM_001353194.1:c.*305C>A NP_001340123.1:n.*305C>A
NM_001353195.1:c.*305C>A NP_001340124.1:n.*305C>A
NM_001353196.1:c.*305C>A NP_001340125.1:n.*305C>A
NM_001353197.1:c.*305C>A NP_001340126.1:n.*305C>A
NM_001353198.1:c.*305C>A NP_001340127.1:n.*305C>A
NM_001353199.1:c.*305C>A NP_001340128.1:n.*305C>A
NM_001353200.1:c.*305C>A NP_001340129.1:n.*305C>A
NR_148391.1:n.2357C>A
NR_148392.1:n.2575C>A
NR_148393.1:n.2672C>A
NR_148394.1:n.2426C>A
NR_148395.1:n.2824C>A
NR_148396.1:n.2458C>A
NR_148397.1:n.2583C>A
NR_148398.1:n.2538C>A
NR_148399.1:n.2888C>A
NR_148400.1:n.2663C>A
XM_005272162.3:c.*305C>A XP_005272219.1:n.*305C>A
XM_006716932.2:c.*305C>A XP_006716995.1:n.*305C>A
XM_011518140.2:c.*305C>A XP_011516442.1:n.*305C>A
XM_011518141.2:c.*305C>A XP_011516443.1:n.*305C>A
XM_011518142.2:c.*305C>A XP_011516444.1:n.*305C>A
XM_011518143.2:c.*305C>A XP_011516445.1:n.*305C>A
XM_011518145.2:c.*305C>A XP_011516447.1:n.*305C>A
XM_017014205.2:c.*305C>A XP_016869694.1:n.*305C>A
XM_024447380.1:c.*305C>A XP_024303148.1:n.*305C>A
XM_024447381.1:c.*305C>A XP_024303149.1:n.*305C>A
XM_024447382.1:c.*305C>A XP_024303150.1:n.*305C>A
XR_001746160.2:n.2477C>A
XR_001746162.2:n.2858C>A
XR_001746164.1:n.2575C>A
XR_001746166.2:n.2694C>A
NM_001077365.2:c.*305C>A MANE Select NP_001070833.1:n.*305C>A
NM_001077366.2:c.*305C>A NP_001070834.1:n.*305C>A
NM_001136113.2:c.*305C>A NP_001129585.1:n.*305C>A
NM_001136114.2:c.*305C>A NP_001129586.1:n.*305C>A
NM_001353193.2:c.*305C>A NP_001340122.2:n.*305C>A
NM_001353194.2:c.*305C>A NP_001340123.1:n.*305C>A
NM_001353195.2:c.*305C>A NP_001340124.1:n.*305C>A
NM_001353196.2:c.*305C>A NP_001340125.1:n.*305C>A
NM_001353197.2:c.*305C>A NP_001340126.2:n.*305C>A
NM_001353198.2:c.*305C>A NP_001340127.2:n.*305C>A
NM_001353199.2:c.*305C>A NP_001340128.2:n.*305C>A
NM_001353200.2:c.*305C>A NP_001340129.1:n.*305C>A
NM_001374689.1:c.*305C>A NP_001361618.1:n.*305C>A
NM_001374690.1:c.*305C>A NP_001361619.1:n.*305C>A
NM_001374691.1:c.*305C>A NP_001361620.1:n.*305C>A
NM_001374692.1:c.*305C>A NP_001361621.1:n.*305C>A
NM_001374693.1:c.*305C>A NP_001361622.1:n.*305C>A
NM_001374695.1:c.*305C>A NP_001361624.1:n.*305C>A
NM_007171.4:c.*305C>A NP_009102.4:n.*305C>A
NR_148391.2:n.2341C>A
NR_148392.2:n.2559C>A
NR_148393.2:n.2656C>A
NR_148394.2:n.2410C>A
NR_148395.2:n.2808C>A
NR_148396.2:n.2442C>A
NR_148397.2:n.2567C>A
NR_148398.2:n.2522C>A
NR_148399.2:n.2872C>A
NR_148400.2:n.2647C>A
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