Canonical Allele Identifier: CA375306861
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 452621
dbSNP Id: rs1554773448

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131508909A>G , CM000671.2:g.131508909A>G GRCh38
NC_000009.11:g.134384296A>G , CM000671.1:g.134384296A>G GRCh37
NC_000009.10:g.133374117A>G NCBI36
NG_008896.1:g.11008A>G
NG_008896.2:g.11008A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.266-2A>G ENSP00000343034.7:n.266-2A>G
ENST00000404875.7:n.537-2A>G
ENST00000423007.6:c.419-2A>G ENSP00000404119.2:n.419-2A>G
ENST00000677295.2:c.*504-2A>G ENSP00000504346.2:n.*504-2A>G
ENST00000678264.2:c.*611-2A>G ENSP00000503157.2:n.*611-2A>G
ENST00000678942.2:c.123-2A>G ENSP00000504690.2:n.123-2A>G
ENST00000682070.1:n.625-2A>G
ENST00000682813.1:n.430-2A>G
ENST00000683229.1:c.-29-2A>G ENSP00000506964.1:n.-29-2A>G
ENST00000683392.1:n.2910A>G
ENST00000683712.1:n.565-2A>G
ENST00000683900.1:n.1604-834A>G
ENST00000684062.1:n.735A>G
ENST00000684579.1:n.2004A>G
ENST00000341012.12:c.266-2A>G ENSP00000343034.7:n.266-2A>G
ENST00000372220.5:c.-145-3132A>G ENSP00000361294.5:n.-145-3132A>G
ENST00000372228.9:c.428-2A>G ENSP00000361302.3:n.428-2A>G
ENST00000402686.8:c.428-2A>G MANE Select ENSP00000385797.4:n.428-2A>G
ENST00000415075.6:c.*138-2A>G ENSP00000405149.2:n.*138-2A>G
ENST00000430619.2:c.-29-2A>G ENSP00000402083.2:n.-29-2A>G
ENST00000462375.6:n.250A>G
ENST00000676640.1:c.428-2A>G ENSP00000503281.1:n.428-2A>G
ENST00000676803.1:c.-126-1351A>G ENSP00000503093.1:n.-126-1351A>G
ENST00000676835.1:c.77-2A>G ENSP00000502911.1:n.77-2A>G
ENST00000676915.1:c.281-2A>G ENSP00000504628.1:n.281-2A>G
ENST00000677028.1:c.266-834A>G ENSP00000503896.1:n.266-834A>G
ENST00000677029.1:c.-29-2A>G ENSP00000502936.1:n.-29-2A>G
ENST00000677099.1:c.*138-2A>G ENSP00000504553.1:n.*138-2A>G
ENST00000677167.1:c.428-2A>G ENSP00000503307.1:n.428-2A>G
ENST00000677216.1:c.77-2A>G ENSP00000503772.1:n.77-2A>G
ENST00000677293.1:c.-29-1448A>G ENSP00000504278.1:n.-29-1448A>G
ENST00000677295.1:c.266-2A>G ENSP00000504346.1:n.266-2A>G
ENST00000677586.1:n.181-1351A>G
ENST00000677626.1:c.266-2A>G ENSP00000503552.1:n.266-2A>G
ENST00000677677.1:n.388-2A>G
ENST00000677729.1:c.428-834A>G ENSP00000503581.1:n.428-834A>G
ENST00000677853.1:c.266-2A>G ENSP00000503488.1:n.266-2A>G
ENST00000678264.1:c.428-2A>G ENSP00000503157.1:n.428-2A>G
ENST00000678303.1:c.338-2A>G ENSP00000503696.1:n.338-2A>G
ENST00000678366.1:c.*611-2A>G ENSP00000504353.1:n.*611-2A>G
ENST00000678546.1:c.266-2A>G ENSP00000503062.1:n.266-2A>G
ENST00000678548.1:c.*138-2A>G ENSP00000503934.1:n.*138-2A>G
ENST00000678626.1:n.120-2A>G
ENST00000678707.1:n.178-834A>G
ENST00000678739.1:c.*486-2A>G ENSP00000503806.1:n.*486-2A>G
ENST00000678785.1:c.266-2A>G ENSP00000504231.1:n.266-2A>G
ENST00000678833.1:c.428-834A>G ENSP00000503893.1:n.428-834A>G
ENST00000679023.1:c.266-2A>G ENSP00000503718.1:n.266-2A>G
ENST00000679076.1:c.139-2A>G
ENST00000679111.1:c.428-2A>G ENSP00000504257.1:n.428-2A>G
ENST00000679189.1:c.77-2A>G ENSP00000503356.1:n.77-2A>G
ENST00000341012.11:c.266-2A>G ENSP00000343034.7:n.266-2A>G
ENST00000372228.7:c.428-2A>G ENSP00000361302.3:n.428-2A>G
ENST00000402686.7:c.428-2A>G ENSP00000385797.3:n.428-2A>G
ENST00000404875.6:c.77-2A>G ENSP00000384531.2:n.77-2A>G
ENST00000415075.5:c.77-2A>G ENSP00000405149.1:n.77-2A>G
ENST00000423007.5:c.428-2A>G ENSP00000404119.1:n.428-2A>G
ENST00000430619.1:c.77-2A>G ENSP00000402083.1:n.77-2A>G
ENST00000441334.5:c.77-2A>G ENSP00000395060.1:n.77-2A>G
ENST00000448212.5:c.266-2A>G ENSP00000403736.1:n.266-2A>G
NM_001077365.1:c.428-2A>G NP_001070833.1:n.428-2A>G
NM_001077366.1:c.266-2A>G NP_001070834.1:n.266-2A>G
NM_001136113.1:c.428-2A>G NP_001129585.1:n.428-2A>G
NM_001136114.1:c.77-2A>G NP_001129586.1:n.77-2A>G
NM_007171.3:c.428-2A>G NP_009102.3:n.428-2A>G
XM_005272156.1:c.428-2A>G XP_005272213.1:n.428-2A>G
XM_005272158.1:c.266-2A>G XP_005272215.1:n.266-2A>G
XM_005272159.1:c.77-2A>G XP_005272216.1:n.77-2A>G
XM_005272162.1:c.-972-2A>G XP_005272219.1:n.-972-2A>G
XM_006716932.1:c.77-2A>G XP_006716995.1:n.77-2A>G
XM_011518140.1:c.281-2A>G XP_011516442.1:n.281-2A>G
XM_011518141.1:c.281-2A>G XP_011516443.1:n.281-2A>G
XM_011518142.1:c.119-2A>G XP_011516444.1:n.119-2A>G
XM_011518143.1:c.174-2A>G XP_011516445.1:n.174-2A>G
XM_011518144.1:c.428-2A>G XP_011516446.1:n.428-2A>G
XM_011518145.1:c.-29-2A>G XP_011516447.1:n.-29-2A>G
XM_011518146.1:c.174-2A>G XP_011516448.1:n.174-2A>G
XR_929703.1:n.604-2A>G
NM_001353193.1:c.428-2A>G NP_001340122.1:n.428-2A>G
NM_001353194.1:c.266-2A>G NP_001340123.1:n.266-2A>G
NM_001353195.1:c.77-2A>G NP_001340124.1:n.77-2A>G
NM_001353196.1:c.338-2A>G NP_001340125.1:n.338-2A>G
NM_001353197.1:c.266-2A>G NP_001340126.1:n.266-2A>G
NM_001353198.1:c.266-2A>G NP_001340127.1:n.266-2A>G
NM_001353199.1:c.77-2A>G NP_001340128.1:n.77-2A>G
NM_001353200.1:c.-29-2A>G NP_001340129.1:n.-29-2A>G
NR_148391.1:n.478-2A>G
NR_148392.1:n.630-2A>G
NR_148393.1:n.478-2A>G
NR_148394.1:n.478-834A>G
NR_148395.1:n.630-2A>G
NR_148396.1:n.371-834A>G
NR_148397.1:n.523-2A>G
NR_148398.1:n.478-2A>G
NR_148399.1:n.870-2A>G
NR_148400.1:n.464-2A>G
XM_005272162.3:c.-972-2A>G XP_005272219.1:n.-972-2A>G
XM_006716932.2:c.77-2A>G XP_006716995.1:n.77-2A>G
XM_011518140.2:c.281-2A>G XP_011516442.1:n.281-2A>G
XM_011518141.2:c.281-2A>G XP_011516443.1:n.281-2A>G
XM_011518142.2:c.119-2A>G XP_011516444.1:n.119-2A>G
XM_011518143.2:c.174-2A>G XP_011516445.1:n.174-2A>G
XM_011518145.2:c.-29-2A>G XP_011516447.1:n.-29-2A>G
XM_017014205.2:c.-775-2A>G XP_016869694.1:n.-775-2A>G
XM_024447380.1:c.-709-2A>G XP_024303148.1:n.-709-2A>G
XM_024447381.1:c.-661-2A>G XP_024303149.1:n.-661-2A>G
XM_024447382.1:c.-974A>G XP_024303150.1:n.-974A>G
XR_001746160.2:n.598-2A>G
XR_001746162.2:n.598-2A>G
XR_001746164.1:n.376-2A>G
XR_001746166.2:n.552-2A>G
NM_001077365.2:c.428-2A>G MANE Select NP_001070833.1:n.428-2A>G
NM_001077366.2:c.266-2A>G NP_001070834.1:n.266-2A>G
NM_001136113.2:c.428-2A>G NP_001129585.1:n.428-2A>G
NM_001136114.2:c.77-2A>G NP_001129586.1:n.77-2A>G
NM_001353193.2:c.428-2A>G NP_001340122.2:n.428-2A>G
NM_001353194.2:c.266-2A>G NP_001340123.1:n.266-2A>G
NM_001353195.2:c.77-2A>G NP_001340124.1:n.77-2A>G
NM_001353196.2:c.338-2A>G NP_001340125.1:n.338-2A>G
NM_001353197.2:c.266-2A>G NP_001340126.2:n.266-2A>G
NM_001353198.2:c.266-2A>G NP_001340127.2:n.266-2A>G
NM_001353199.2:c.77-2A>G NP_001340128.2:n.77-2A>G
NM_001353200.2:c.-29-2A>G NP_001340129.1:n.-29-2A>G
NM_001374689.1:c.266-2A>G NP_001361618.1:n.266-2A>G
NM_001374690.1:c.428-2A>G NP_001361619.1:n.428-2A>G
NM_001374691.1:c.77-2A>G NP_001361620.1:n.77-2A>G
NM_001374692.1:c.77-2A>G NP_001361621.1:n.77-2A>G
NM_001374693.1:c.266-2A>G NP_001361622.1:n.266-2A>G
NM_001374695.1:c.-29-2A>G NP_001361624.1:n.-29-2A>G
NM_007171.4:c.428-2A>G NP_009102.4:n.428-2A>G
NR_148391.2:n.462-2A>G
NR_148392.2:n.614-2A>G
NR_148393.2:n.462-2A>G
NR_148394.2:n.462-834A>G
NR_148395.2:n.614-2A>G
NR_148396.2:n.355-834A>G
NR_148397.2:n.507-2A>G
NR_148398.2:n.462-2A>G
NR_148399.2:n.854-2A>G
NR_148400.2:n.448-2A>G