Canonical Allele Identifier: CA2692222048
Gene: POMT1 HGNC NCBI

Linked Data

gnomAD v4: 9-131523167-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131523167C>A , CM000671.2:g.131523167C>A GRCh38
NC_000009.11:g.134398554C>A , CM000671.1:g.134398554C>A GRCh37
NC_000009.10:g.133388375C>A NCBI36
NG_008896.1:g.25266C>A
NG_008896.2:g.25266C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.*61C>A ENSP00000343034.7:n.*61C>A
ENST00000404875.7:n.2779C>A
ENST00000677295.2:c.*2583C>A ENSP00000504346.2:n.*2583C>A
ENST00000678264.2:c.*2422C>A ENSP00000503157.2:n.*2422C>A
ENST00000682070.1:n.2549C>A
ENST00000682639.1:c.236C>A
ENST00000682813.1:n.2636C>A
ENST00000683231.1:c.236C>A
ENST00000683392.1:n.4831C>A
ENST00000683900.1:n.4139C>A
ENST00000684062.1:n.2905C>A
ENST00000684399.1:c.236C>A
ENST00000684579.1:n.4085C>A
ENST00000341012.12:c.*61C>A ENSP00000343034.7:n.*61C>A
ENST00000372220.5:c.*61C>A ENSP00000361294.5:n.*61C>A
ENST00000372228.9:c.*61C>A ENSP00000361302.3:n.*61C>A
ENST00000402686.8:c.*61C>A MANE Select ENSP00000385797.4:n.*61C>A
ENST00000676640.1:c.*61C>A ENSP00000503281.1:n.*61C>A
ENST00000676803.1:c.*61C>A ENSP00000503093.1:n.*61C>A
ENST00000676835.1:c.*1454C>A ENSP00000502911.1:n.*1454C>A
ENST00000677029.1:c.*61C>A ENSP00000502936.1:n.*61C>A
ENST00000677099.1:c.*1949C>A ENSP00000504553.1:n.*1949C>A
ENST00000677216.1:c.*61C>A ENSP00000503772.1:n.*61C>A
ENST00000677295.1:c.*1461C>A ENSP00000504346.1:n.*1461C>A
ENST00000677444.1:c.2184C>A
ENST00000677626.1:c.*61C>A ENSP00000503552.1:n.*61C>A
ENST00000677853.1:c.*1247C>A ENSP00000503488.1:n.*1247C>A
ENST00000678303.1:c.*61C>A ENSP00000503696.1:n.*61C>A
ENST00000678366.1:c.*2488C>A ENSP00000504353.1:n.*2488C>A
ENST00000678546.1:c.*2184C>A ENSP00000503062.1:n.*2184C>A
ENST00000678548.1:c.*2378C>A ENSP00000503934.1:n.*2378C>A
ENST00000678626.1:n.2075C>A
ENST00000678739.1:c.*2405C>A ENSP00000503806.1:n.*2405C>A
ENST00000678833.1:c.*1991C>A ENSP00000503893.1:n.*1991C>A
ENST00000679023.1:c.*61C>A ENSP00000503718.1:n.*61C>A
ENST00000679076.1:c.1858C>A
ENST00000679111.1:c.*995C>A ENSP00000504257.1:n.*995C>A
ENST00000679189.1:c.*61C>A ENSP00000503356.1:n.*61C>A
ENST00000341012.11:c.*61C>A ENSP00000343034.7:n.*61C>A
ENST00000372220.4:c.1102C>A ENSP00000361294.4:n.1102C>A
ENST00000372228.7:c.*61C>A ENSP00000361302.3:n.*61C>A
ENST00000402686.7:c.*61C>A ENSP00000385797.3:n.*61C>A
ENST00000404875.6:c.*61C>A ENSP00000384531.2:n.*61C>A
ENST00000423007.5:c.*61C>A ENSP00000404119.1:n.*61C>A
ENST00000485278.5:n.2789C>A
NM_001077365.1:c.*61C>A NP_001070833.1:n.*61C>A
NM_001077366.1:c.*61C>A NP_001070834.1:n.*61C>A
NM_001136113.1:c.*61C>A NP_001129585.1:n.*61C>A
NM_001136114.1:c.*61C>A NP_001129586.1:n.*61C>A
NM_007171.3:c.*61C>A NP_009102.3:n.*61C>A
XM_005272156.1:c.*61C>A XP_005272213.1:n.*61C>A
XM_005272158.1:c.*61C>A XP_005272215.1:n.*61C>A
XM_005272159.1:c.*61C>A XP_005272216.1:n.*61C>A
XM_005272162.1:c.*61C>A XP_005272219.1:n.*61C>A
XM_006716932.1:c.*61C>A XP_006716995.1:n.*61C>A
XM_011518140.1:c.*61C>A XP_011516442.1:n.*61C>A
XM_011518141.1:c.*61C>A XP_011516443.1:n.*61C>A
XM_011518142.1:c.*61C>A XP_011516444.1:n.*61C>A
XM_011518143.1:c.*61C>A XP_011516445.1:n.*61C>A
XM_011518145.1:c.*61C>A XP_011516447.1:n.*61C>A
XM_011518147.1:c.*61C>A XP_011516449.1:n.*61C>A
XR_929703.1:n.2481C>A
NM_001353193.1:c.*61C>A NP_001340122.1:n.*61C>A
NM_001353194.1:c.*61C>A NP_001340123.1:n.*61C>A
NM_001353195.1:c.*61C>A NP_001340124.1:n.*61C>A
NM_001353196.1:c.*61C>A NP_001340125.1:n.*61C>A
NM_001353197.1:c.*61C>A NP_001340126.1:n.*61C>A
NM_001353198.1:c.*61C>A NP_001340127.1:n.*61C>A
NM_001353199.1:c.*61C>A NP_001340128.1:n.*61C>A
NM_001353200.1:c.*61C>A NP_001340129.1:n.*61C>A
NR_148391.1:n.2289C>A
NR_148392.1:n.2507C>A
NR_148393.1:n.2428C>A
NR_148394.1:n.2182C>A
NR_148395.1:n.2580C>A
NR_148396.1:n.2214C>A
NR_148397.1:n.2339C>A
NR_148398.1:n.2294C>A
NR_148399.1:n.2820C>A
NR_148400.1:n.2419C>A
XM_005272162.3:c.*61C>A XP_005272219.1:n.*61C>A
XM_006716932.2:c.*61C>A XP_006716995.1:n.*61C>A
XM_011518140.2:c.*61C>A XP_011516442.1:n.*61C>A
XM_011518141.2:c.*61C>A XP_011516443.1:n.*61C>A
XM_011518142.2:c.*61C>A XP_011516444.1:n.*61C>A
XM_011518143.2:c.*61C>A XP_011516445.1:n.*61C>A
XM_011518145.2:c.*61C>A XP_011516447.1:n.*61C>A
XM_017014205.2:c.*61C>A XP_016869694.1:n.*61C>A
XM_024447380.1:c.*61C>A XP_024303148.1:n.*61C>A
XM_024447381.1:c.*61C>A XP_024303149.1:n.*61C>A
XM_024447382.1:c.*61C>A XP_024303150.1:n.*61C>A
XR_001746160.2:n.2409C>A
XR_001746162.2:n.2614C>A
XR_001746164.1:n.2331C>A
XR_001746166.2:n.2626C>A
NM_001077365.2:c.*61C>A MANE Select NP_001070833.1:n.*61C>A
NM_001077366.2:c.*61C>A NP_001070834.1:n.*61C>A
NM_001136113.2:c.*61C>A NP_001129585.1:n.*61C>A
NM_001136114.2:c.*61C>A NP_001129586.1:n.*61C>A
NM_001353193.2:c.*61C>A NP_001340122.2:n.*61C>A
NM_001353194.2:c.*61C>A NP_001340123.1:n.*61C>A
NM_001353195.2:c.*61C>A NP_001340124.1:n.*61C>A
NM_001353196.2:c.*61C>A NP_001340125.1:n.*61C>A
NM_001353197.2:c.*61C>A NP_001340126.2:n.*61C>A
NM_001353198.2:c.*61C>A NP_001340127.2:n.*61C>A
NM_001353199.2:c.*61C>A NP_001340128.2:n.*61C>A
NM_001353200.2:c.*61C>A NP_001340129.1:n.*61C>A
NM_001374689.1:c.*61C>A NP_001361618.1:n.*61C>A
NM_001374690.1:c.*61C>A NP_001361619.1:n.*61C>A
NM_001374691.1:c.*61C>A NP_001361620.1:n.*61C>A
NM_001374692.1:c.*61C>A NP_001361621.1:n.*61C>A
NM_001374693.1:c.*61C>A NP_001361622.1:n.*61C>A
NM_001374695.1:c.*61C>A NP_001361624.1:n.*61C>A
NM_007171.4:c.*61C>A NP_009102.4:n.*61C>A
NR_148391.2:n.2273C>A
NR_148392.2:n.2491C>A
NR_148393.2:n.2412C>A
NR_148394.2:n.2166C>A
NR_148395.2:n.2564C>A
NR_148396.2:n.2198C>A
NR_148397.2:n.2323C>A
NR_148398.2:n.2278C>A
NR_148399.2:n.2804C>A
NR_148400.2:n.2403C>A
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