Canonical Allele Identifier: CA2692216988
Gene: POMT1 HGNC NCBI

Linked Data

gnomAD v4: 9-131511965-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131511965C>A , CM000671.2:g.131511965C>A GRCh38
NC_000009.11:g.134387352C>A , CM000671.1:g.134387352C>A GRCh37
NC_000009.10:g.133377173C>A NCBI36
NG_008896.1:g.14064C>A
NG_008896.2:g.14064C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000341012.13:c.825-76C>A ENSP00000343034.7:n.825-76C>A
ENST00000404875.7:n.1527-76C>A
ENST00000423007.6:c.1044-76C>A ENSP00000404119.2:n.1044-76C>A
ENST00000677295.2:c.*1331-76C>A ENSP00000504346.2:n.*1331-76C>A
ENST00000678264.2:c.*1170-76C>A ENSP00000503157.2:n.*1170-76C>A
ENST00000678942.2:c.*540-76C>A ENSP00000504690.2:n.*540-76C>A
ENST00000682070.1:n.1452-76C>A
ENST00000682813.1:n.1252-76C>A
ENST00000683392.1:n.3734-76C>A
ENST00000683712.1:n.1392-76C>A
ENST00000683900.1:n.2811C>A
ENST00000684062.1:n.1653-76C>A
ENST00000684579.1:n.2833-76C>A
ENST00000341012.12:c.825-76C>A ENSP00000343034.7:n.825-76C>A
ENST00000372220.5:c.-145-76C>A ENSP00000361294.5:n.-145-76C>A
ENST00000372228.9:c.1053-76C>A ENSP00000361302.3:n.1053-76C>A
ENST00000402686.8:c.987-76C>A MANE Select ENSP00000385797.4:n.987-76C>A
ENST00000415075.6:c.*445-76C>A ENSP00000405149.2:n.*445-76C>A
ENST00000676640.1:c.987-76C>A ENSP00000503281.1:n.987-76C>A
ENST00000676803.1:c.162-76C>A ENSP00000503093.1:n.162-76C>A
ENST00000676835.1:c.*202-76C>A ENSP00000502911.1:n.*202-76C>A
ENST00000677029.1:c.531-76C>A ENSP00000502936.1:n.531-76C>A
ENST00000677099.1:c.*697-76C>A ENSP00000504553.1:n.*697-76C>A
ENST00000677216.1:c.636-76C>A ENSP00000503772.1:n.636-76C>A
ENST00000677293.1:c.162-76C>A ENSP00000504278.1:n.162-76C>A
ENST00000677295.1:c.*364-76C>A ENSP00000504346.1:n.*364-76C>A
ENST00000677444.1:c.793-76C>A
ENST00000677586.1:n.468-76C>A
ENST00000677626.1:c.824+498C>A ENSP00000503552.1:n.824+498C>A
ENST00000677677.1:n.947-76C>A
ENST00000677853.1:c.568-76C>A ENSP00000503488.1:n.568-76C>A
ENST00000677944.1:c.249-76C>A
ENST00000678264.1:c.*364-76C>A ENSP00000503157.1:n.*364-76C>A
ENST00000678303.1:c.897-76C>A ENSP00000503696.1:n.897-76C>A
ENST00000678366.1:c.*1236-76C>A ENSP00000504353.1:n.*1236-76C>A
ENST00000678546.1:c.*856C>A ENSP00000503062.1:n.*856C>A
ENST00000678548.1:c.*1059-76C>A ENSP00000503934.1:n.*1059-76C>A
ENST00000678626.1:n.684-76C>A
ENST00000678733.1:c.161-76C>A
ENST00000678739.1:c.*1313-76C>A ENSP00000503806.1:n.*1313-76C>A
ENST00000678833.1:c.*434-76C>A ENSP00000503893.1:n.*434-76C>A
ENST00000678942.1:c.167-76C>A ENSP00000504690.1:n.167-76C>A
ENST00000679023.1:c.825-76C>A ENSP00000503718.1:n.825-76C>A
ENST00000679073.1:c.365-76C>A ENSP00000504356.1:n.365-76C>A
ENST00000679076.1:c.606-76C>A
ENST00000679111.1:c.987-76C>A ENSP00000504257.1:n.987-76C>A
ENST00000679189.1:c.636-76C>A ENSP00000503356.1:n.636-76C>A
ENST00000341012.11:c.825-76C>A ENSP00000343034.7:n.825-76C>A
ENST00000372228.7:c.1053-76C>A ENSP00000361302.3:n.1053-76C>A
ENST00000402686.7:c.987-76C>A ENSP00000385797.3:n.987-76C>A
ENST00000404875.6:c.636-76C>A ENSP00000384531.2:n.636-76C>A
ENST00000415075.5:c.384-76C>A ENSP00000405149.1:n.384-76C>A
ENST00000423007.5:c.987-76C>A ENSP00000404119.1:n.987-76C>A
ENST00000441334.5:c.702-76C>A ENSP00000395060.1:n.702-76C>A
ENST00000462375.5:n.813-76C>A
ENST00000485278.5:n.1466C>A
NM_001077365.1:c.987-76C>A NP_001070833.1:n.987-76C>A
NM_001077366.1:c.825-76C>A NP_001070834.1:n.825-76C>A
NM_001136113.1:c.987-76C>A NP_001129585.1:n.987-76C>A
NM_001136114.1:c.636-76C>A NP_001129586.1:n.636-76C>A
NM_007171.3:c.1053-76C>A NP_009102.3:n.1053-76C>A
XM_005272156.1:c.1053-76C>A XP_005272213.1:n.1053-76C>A
XM_005272158.1:c.891-76C>A XP_005272215.1:n.891-76C>A
XM_005272159.1:c.702-76C>A XP_005272216.1:n.702-76C>A
XM_005272162.1:c.-145-76C>A XP_005272219.1:n.-145-76C>A
XM_006716932.1:c.702-76C>A XP_006716995.1:n.702-76C>A
XM_011518140.1:c.906-76C>A XP_011516442.1:n.906-76C>A
XM_011518141.1:c.840-76C>A XP_011516443.1:n.840-76C>A
XM_011518142.1:c.744-76C>A XP_011516444.1:n.744-76C>A
XM_011518143.1:c.738-76C>A XP_011516445.1:n.738-76C>A
XM_011518144.1:c.1053-76C>A XP_011516446.1:n.1053-76C>A
XM_011518145.1:c.597-76C>A XP_011516447.1:n.597-76C>A
XM_011518146.1:c.738-76C>A XP_011516448.1:n.738-76C>A
XR_929703.1:n.1229-76C>A
NM_001353193.1:c.1053-76C>A NP_001340122.1:n.1053-76C>A
NM_001353194.1:c.825-76C>A NP_001340123.1:n.825-76C>A
NM_001353195.1:c.636-76C>A NP_001340124.1:n.636-76C>A
NM_001353196.1:c.897-76C>A NP_001340125.1:n.897-76C>A
NM_001353197.1:c.891-76C>A NP_001340126.1:n.891-76C>A
NM_001353198.1:c.891-76C>A NP_001340127.1:n.891-76C>A
NM_001353199.1:c.702-76C>A NP_001340128.1:n.702-76C>A
NM_001353200.1:c.531-76C>A NP_001340129.1:n.531-76C>A
NR_148391.1:n.1037-76C>A
NR_148392.1:n.1255-76C>A
NR_148393.1:n.1037-76C>A
NR_148394.1:n.930-76C>A
NR_148395.1:n.1189-76C>A
NR_148396.1:n.823-76C>A
NR_148397.1:n.1087-76C>A
NR_148398.1:n.1042-76C>A
NR_148399.1:n.1429-76C>A
NR_148400.1:n.1028-76C>A
XM_005272162.3:c.-145-76C>A XP_005272219.1:n.-145-76C>A
XM_006716932.2:c.702-76C>A XP_006716995.1:n.702-76C>A
XM_011518140.2:c.906-76C>A XP_011516442.1:n.906-76C>A
XM_011518141.2:c.840-76C>A XP_011516443.1:n.840-76C>A
XM_011518142.2:c.744-76C>A XP_011516444.1:n.744-76C>A
XM_011518143.2:c.738-76C>A XP_011516445.1:n.738-76C>A
XM_011518145.2:c.597-76C>A XP_011516447.1:n.597-76C>A
XM_017014205.2:c.-145-76C>A XP_016869694.1:n.-145-76C>A
XM_024447380.1:c.-145-76C>A XP_024303148.1:n.-145-76C>A
XM_024447381.1:c.162-76C>A XP_024303149.1:n.162-76C>A
XM_024447382.1:c.-145-76C>A XP_024303150.1:n.-145-76C>A
XR_001746160.2:n.1157-76C>A
XR_001746162.2:n.1223-76C>A
XR_001746164.1:n.940-76C>A
XR_001746166.2:n.1374-76C>A
NM_001077365.2:c.987-76C>A MANE Select NP_001070833.1:n.987-76C>A
NM_001077366.2:c.825-76C>A NP_001070834.1:n.825-76C>A
NM_001136113.2:c.987-76C>A NP_001129585.1:n.987-76C>A
NM_001136114.2:c.636-76C>A NP_001129586.1:n.636-76C>A
NM_001353193.2:c.1053-76C>A NP_001340122.2:n.1053-76C>A
NM_001353194.2:c.825-76C>A NP_001340123.1:n.825-76C>A
NM_001353195.2:c.636-76C>A NP_001340124.1:n.636-76C>A
NM_001353196.2:c.897-76C>A NP_001340125.1:n.897-76C>A
NM_001353197.2:c.891-76C>A NP_001340126.2:n.891-76C>A
NM_001353198.2:c.891-76C>A NP_001340127.2:n.891-76C>A
NM_001353199.2:c.702-76C>A NP_001340128.2:n.702-76C>A
NM_001353200.2:c.531-76C>A NP_001340129.1:n.531-76C>A
NM_001374689.1:c.975-76C>A NP_001361618.1:n.975-76C>A
NM_001374690.1:c.987-76C>A NP_001361619.1:n.987-76C>A
NM_001374691.1:c.636-76C>A NP_001361620.1:n.636-76C>A
NM_001374692.1:c.636-76C>A NP_001361621.1:n.636-76C>A
NM_001374693.1:c.824+498C>A NP_001361622.1:n.824+498C>A
NM_001374695.1:c.597-76C>A NP_001361624.1:n.597-76C>A
NM_007171.4:c.1053-76C>A NP_009102.4:n.1053-76C>A
NR_148391.2:n.1021-76C>A
NR_148392.2:n.1239-76C>A
NR_148393.2:n.1021-76C>A
NR_148394.2:n.914-76C>A
NR_148395.2:n.1173-76C>A
NR_148396.2:n.807-76C>A
NR_148397.2:n.1071-76C>A
NR_148398.2:n.1026-76C>A
NR_148399.2:n.1413-76C>A
NR_148400.2:n.1012-76C>A
Search 100 bp 5'
Search 100 bp 3'