Canonical Allele Identifier: CA2579751289
Gene: POMT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131509809dup , CM000671.2:g.131509809dup GRCh38
NC_000009.11:g.134385196dup , CM000671.1:g.134385196dup GRCh37
NC_000009.10:g.133375017dup NCBI36
NG_008896.1:g.11908dup
NG_008896.2:g.11908dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.443+1dup
ENST00000404875.7:n.714+1dup
ENST00000423007.6:c.596+1dup
ENST00000462375.7:n.113-94dup
ENST00000677295.2:c.*681+1dup
ENST00000678264.2:c.*788+1dup
ENST00000678942.2:c.300+1dup
ENST00000682070.1:n.802+1dup
ENST00000682813.1:n.607+1dup
ENST00000683134.1:c.66+1dup
ENST00000683392.1:n.3089+1dup
ENST00000683712.1:n.742+1dup
ENST00000683900.1:n.1669+1dup
ENST00000684062.1:n.915dup
ENST00000684579.1:n.2183+1dup
ENST00000341012.12:c.443+1dup
ENST00000372220.5:c.-145-2232dup ENSP00000361294.5:n.-145-2232dup
ENST00000372228.9:c.605+1dup
ENST00000402686.8:c.605+1dup
ENST00000415075.6:c.*250-548dup ENSP00000405149.2:n.*250-548dup
ENST00000430619.2:c.149+1dup
ENST00000462375.6:n.429+1dup
ENST00000676640.1:c.605+1dup
ENST00000676803.1:c.-126-451dup ENSP00000503093.1:n.-126-451dup
ENST00000676835.1:c.189-451dup ENSP00000502911.1:n.189-451dup
ENST00000676915.1:c.458+1dup
ENST00000677028.1:c.*52+1dup
ENST00000677029.1:c.149+1dup
ENST00000677099.1:c.*315+1dup
ENST00000677216.1:c.254+1dup
ENST00000677293.1:c.-29-548dup ENSP00000504278.1:n.-29-548dup
ENST00000677295.1:c.443+1dup
ENST00000677444.1:c.148+1dup
ENST00000677586.1:n.181-451dup
ENST00000677626.1:c.443+1dup
ENST00000677677.1:n.565+1dup
ENST00000677729.1:c.*52+1dup
ENST00000677853.1:c.378-548dup ENSP00000503488.1:n.378-548dup
ENST00000677944.1:c.59-548dup
ENST00000678264.1:c.605+1dup
ENST00000678303.1:c.515+1dup
ENST00000678366.1:c.*788+1dup
ENST00000678546.1:c.443+1dup
ENST00000678548.1:c.*316dup ENSP00000503934.1:n.*316dup
ENST00000678626.1:n.297+1dup
ENST00000678693.1:n.288+1dup
ENST00000678707.1:n.243+1dup
ENST00000678739.1:c.*663+1dup
ENST00000678833.1:c.*52+1dup
ENST00000679023.1:c.443+1dup
ENST00000679076.1:c.316+1dup
ENST00000679111.1:c.605+1dup
ENST00000679189.1:c.254+1dup
ENST00000341012.11:c.443+1dup
ENST00000372228.7:c.605+1dup
ENST00000402686.7:c.605+1dup
ENST00000404875.6:c.254+1dup
ENST00000415075.5:c.189-548dup ENSP00000405149.1:n.189-548dup
ENST00000423007.5:c.605+1dup
ENST00000430619.1:c.254+1dup
ENST00000441334.5:c.254+1dup
ENST00000448212.5:c.443+1dup
ENST00000462375.5:n.163+1dup
NM_001077365.1:c.605+1dup
NM_001077366.1:c.443+1dup
NM_001136113.1:c.605+1dup
NM_001136114.1:c.254+1dup
NM_007171.3:c.605+1dup
XM_005272156.1:c.605+1dup
XM_005272158.1:c.443+1dup
XM_005272159.1:c.254+1dup
XM_005272162.1:c.-795+1dup
XM_006716932.1:c.254+1dup
XM_011518140.1:c.458+1dup
XM_011518141.1:c.458+1dup
XM_011518142.1:c.296+1dup
XM_011518143.1:c.351+1dup
XM_011518144.1:c.605+1dup
XM_011518145.1:c.149+1dup
XM_011518146.1:c.351+1dup
XR_929703.1:n.781+1dup
NM_001353193.1:c.605+1dup
NM_001353194.1:c.443+1dup
NM_001353195.1:c.254+1dup
NM_001353196.1:c.515+1dup
NM_001353197.1:c.443+1dup
NM_001353198.1:c.443+1dup
NM_001353199.1:c.254+1dup
NM_001353200.1:c.149+1dup
NR_148391.1:n.655+1dup
NR_148392.1:n.807+1dup
NR_148393.1:n.655+1dup
NR_148394.1:n.543+1dup
NR_148395.1:n.807+1dup
NR_148396.1:n.436+1dup
NR_148397.1:n.700+1dup
NR_148398.1:n.655+1dup
NR_148399.1:n.1047+1dup
NR_148400.1:n.641+1dup
XM_005272162.3:c.-795+1dup
XM_006716932.2:c.254+1dup
XM_011518140.2:c.458+1dup
XM_011518141.2:c.458+1dup
XM_011518142.2:c.296+1dup
XM_011518143.2:c.351+1dup
XM_011518145.2:c.149+1dup
XM_017014205.2:c.-598+1dup
XM_024447380.1:c.-532+1dup
XM_024447381.1:c.-484+1dup
XM_024447382.1:c.-795+1dup
XR_001746160.2:n.775+1dup
XR_001746162.2:n.775+1dup
XR_001746164.1:n.553+1dup
XR_001746166.2:n.729+1dup
NM_001077365.2:c.605+1dup
NM_001077366.2:c.443+1dup
NM_001136113.2:c.605+1dup
NM_001136114.2:c.254+1dup
NM_001353193.2:c.605+1dup
NM_001353194.2:c.443+1dup
NM_001353195.2:c.254+1dup
NM_001353196.2:c.515+1dup
NM_001353197.2:c.443+1dup
NM_001353198.2:c.443+1dup
NM_001353199.2:c.254+1dup
NM_001353200.2:c.149+1dup
NM_001374689.1:c.443+1dup
NM_001374690.1:c.605+1dup
NM_001374691.1:c.254+1dup
NM_001374692.1:c.254+1dup
NM_001374693.1:c.443+1dup
NM_001374695.1:c.149+1dup
NM_007171.4:c.605+1dup
NR_148391.2:n.639+1dup
NR_148392.2:n.791+1dup
NR_148393.2:n.639+1dup
NR_148394.2:n.527+1dup
NR_148395.2:n.791+1dup
NR_148396.2:n.420+1dup
NR_148397.2:n.684+1dup
NR_148398.2:n.639+1dup
NR_148399.2:n.1031+1dup
NR_148400.2:n.625+1dup