Canonical Allele Identifier: CA375312995
Community Standard Title: NM_001077365.2(POMT1):c.1585-2A>G
Gene: POMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131520078A>G , CM000671.2:g.131520078A>G GRCh38
NC_000009.11:g.134395465A>G , CM000671.1:g.134395465A>G GRCh37
NC_000009.10:g.133385286A>G NCBI36
NG_008896.1:g.22177A>G
NG_008896.2:g.22177A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001077365.2:c.1585-2A>G MANE Select NP_001070833.1:n.1585-2A>G
ENST00000402686.8:c.1585-2A>G MANE Select ENSP00000385797.4:n.1585-2A>G
NM_001077365.1:c.1585-2A>G NP_001070833.1:n.1585-2A>G
NM_001077366.1:c.1423-2A>G NP_001070834.1:n.1423-2A>G
NM_001077366.2:c.1423-2A>G NP_001070834.1:n.1423-2A>G
NM_001136113.1:c.1585-2A>G NP_001129585.1:n.1585-2A>G
NM_001136113.2:c.1585-2A>G NP_001129585.1:n.1585-2A>G
NM_001136114.1:c.1234-2A>G NP_001129586.1:n.1234-2A>G
NM_001136114.2:c.1234-2A>G NP_001129586.1:n.1234-2A>G
NM_001353193.1:c.1651-2A>G NP_001340122.1:n.1651-2A>G
NM_001353193.2:c.1651-2A>G NP_001340122.2:n.1651-2A>G
NM_001353194.1:c.1423-2A>G NP_001340123.1:n.1423-2A>G
NM_001353194.2:c.1423-2A>G NP_001340123.1:n.1423-2A>G
NM_001353195.1:c.1234-2A>G NP_001340124.1:n.1234-2A>G
NM_001353195.2:c.1234-2A>G NP_001340124.1:n.1234-2A>G
NM_001353196.1:c.1495-2A>G NP_001340125.1:n.1495-2A>G
NM_001353196.2:c.1495-2A>G NP_001340125.1:n.1495-2A>G
NM_001353197.1:c.1489-2A>G NP_001340126.1:n.1489-2A>G
NM_001353197.2:c.1489-2A>G NP_001340126.2:n.1489-2A>G
NM_001353198.1:c.1489-2A>G NP_001340127.1:n.1489-2A>G
NM_001353198.2:c.1489-2A>G NP_001340127.2:n.1489-2A>G
NM_001353199.1:c.1300-2A>G NP_001340128.1:n.1300-2A>G
NM_001353199.2:c.1300-2A>G NP_001340128.2:n.1300-2A>G
NM_001353200.1:c.1129-2A>G NP_001340129.1:n.1129-2A>G
NM_001353200.2:c.1129-2A>G NP_001340129.1:n.1129-2A>G
NM_001374689.1:c.1573-2A>G NP_001361618.1:n.1573-2A>G
NM_001374690.1:c.1366-2A>G NP_001361619.1:n.1366-2A>G
NM_001374691.1:c.1234-2A>G NP_001361620.1:n.1234-2A>G
NM_001374692.1:c.1234-2A>G NP_001361621.1:n.1234-2A>G
NM_001374693.1:c.1234-2A>G NP_001361622.1:n.1234-2A>G
NM_001374695.1:c.1195-2A>G NP_001361624.1:n.1195-2A>G
NM_007171.3:c.1651-2A>G NP_009102.3:n.1651-2A>G
NM_007171.4:c.1651-2A>G NP_009102.4:n.1651-2A>G
NR_148391.1:n.1635-2A>G
NR_148391.2:n.1619-2A>G
NR_148392.1:n.1853-2A>G
NR_148392.2:n.1837-2A>G
NR_148393.1:n.1774-2A>G
NR_148393.2:n.1758-2A>G
NR_148394.1:n.1528-2A>G
NR_148394.2:n.1512-2A>G
NR_148395.1:n.1926-2A>G
NR_148395.2:n.1910-2A>G
NR_148396.1:n.1560-2A>G
NR_148396.2:n.1544-2A>G
NR_148397.1:n.1685-2A>G
NR_148397.2:n.1669-2A>G
NR_148398.1:n.1640-2A>G
NR_148398.2:n.1624-2A>G
NR_148399.1:n.2166-2A>G
NR_148399.2:n.2150-2A>G
NR_148400.1:n.1765-2A>G
NR_148400.2:n.1749-2A>G
ENST00000341012.11:c.1423-2A>G ENSP00000343034.7:n.1423-2A>G
ENST00000341012.12:c.1423-2A>G ENSP00000343034.7:n.1423-2A>G
ENST00000341012.13:c.1423-2A>G ENSP00000343034.7:n.1423-2A>G
ENST00000372220.4:c.448-2A>G ENSP00000361294.4:n.448-2A>G
ENST00000372220.5:c.454-2A>G ENSP00000361294.5:n.454-2A>G
ENST00000372228.7:c.1651-2A>G ENSP00000361302.3:n.1651-2A>G
ENST00000372228.9:c.1651-2A>G ENSP00000361302.3:n.1651-2A>G
ENST00000402686.7:c.1585-2A>G ENSP00000385797.3:n.1585-2A>G
ENST00000404875.6:c.1234-2A>G ENSP00000384531.2:n.1234-2A>G
ENST00000404875.7:n.2125-2A>G
ENST00000423007.5:c.1585-2A>G ENSP00000404119.1:n.1585-2A>G
ENST00000423007.6:c.1642-2A>G ENSP00000404119.2:n.1642-2A>G
ENST00000467848.1:n.289-2A>G
ENST00000485278.5:n.2135-2A>G
ENST00000676640.1:c.1585-2A>G ENSP00000503281.1:n.1585-2A>G
ENST00000676803.1:c.759+592A>G ENSP00000503093.1:n.759+592A>G
ENST00000676835.1:c.*800-2A>G ENSP00000502911.1:n.*800-2A>G
ENST00000677029.1:c.1129-2A>G ENSP00000502936.1:n.1129-2A>G
ENST00000677099.1:c.*1295-2A>G ENSP00000504553.1:n.*1295-2A>G
ENST00000677216.1:c.1234-2A>G ENSP00000503772.1:n.1234-2A>G
ENST00000677221.1:n.610-2A>G
ENST00000677295.1:c.*962-2A>G ENSP00000504346.1:n.*962-2A>G
ENST00000677295.2:c.*1929-2A>G ENSP00000504346.2:n.*1929-2A>G
ENST00000677444.1:c.1530-2A>G
ENST00000677586.1:n.1065+592A>G
ENST00000677626.1:c.1234-2A>G ENSP00000503552.1:n.1234-2A>G
ENST00000677677.1:n.1545-2A>G
ENST00000677853.1:c.*593-2A>G ENSP00000503488.1:n.*593-2A>G
ENST00000678202.1:n.744-2A>G
ENST00000678264.1:c.*962-2A>G ENSP00000503157.1:n.*962-2A>G
ENST00000678264.2:c.*1768-2A>G ENSP00000503157.2:n.*1768-2A>G
ENST00000678303.1:c.1495-2A>G ENSP00000503696.1:n.1495-2A>G
ENST00000678366.1:c.*1834-2A>G ENSP00000504353.1:n.*1834-2A>G
ENST00000678546.1:c.*1530-2A>G ENSP00000503062.1:n.*1530-2A>G
ENST00000678548.1:c.*1657-2A>G ENSP00000503934.1:n.*1657-2A>G
ENST00000678626.1:n.1421-2A>G
ENST00000678733.1:c.666-2A>G
ENST00000678739.1:c.*1906-2A>G ENSP00000503806.1:n.*1906-2A>G
ENST00000678833.1:c.*1337-2A>G ENSP00000503893.1:n.*1337-2A>G
ENST00000679023.1:c.1423-2A>G ENSP00000503718.1:n.1423-2A>G
ENST00000679076.1:c.1204-2A>G
ENST00000679111.1:c.*341-2A>G ENSP00000504257.1:n.*341-2A>G
ENST00000679189.1:c.1234-2A>G ENSP00000503356.1:n.1234-2A>G
ENST00000682070.1:n.2050-2A>G
ENST00000682813.1:n.1989-2A>G
ENST00000683392.1:n.4332-2A>G
ENST00000683712.1:n.1990-2A>G
ENST00000683900.1:n.3485-2A>G
ENST00000684062.1:n.2251-2A>G
ENST00000684579.1:n.3431-2A>G
ENST00000684679.1:n.812-2A>G
XM_005272156.1:c.1651-2A>G XP_005272213.1:n.1651-2A>G
XM_005272158.1:c.1489-2A>G XP_005272215.1:n.1489-2A>G
XM_005272159.1:c.1300-2A>G XP_005272216.1:n.1300-2A>G
XM_005272162.1:c.454-2A>G XP_005272219.1:n.454-2A>G
XM_005272162.3:c.454-2A>G XP_005272219.1:n.454-2A>G
XM_006716932.1:c.1300-2A>G XP_006716995.1:n.1300-2A>G
XM_006716932.2:c.1300-2A>G XP_006716995.1:n.1300-2A>G
XM_011518140.1:c.1504-2A>G XP_011516442.1:n.1504-2A>G
XM_011518140.2:c.1504-2A>G XP_011516442.1:n.1504-2A>G
XM_011518141.1:c.1438-2A>G XP_011516443.1:n.1438-2A>G
XM_011518141.2:c.1438-2A>G XP_011516443.1:n.1438-2A>G
XM_011518142.1:c.1342-2A>G XP_011516444.1:n.1342-2A>G
XM_011518142.2:c.1342-2A>G XP_011516444.1:n.1342-2A>G
XM_011518143.1:c.1336-2A>G XP_011516445.1:n.1336-2A>G
XM_011518143.2:c.1336-2A>G XP_011516445.1:n.1336-2A>G
XM_011518145.1:c.1195-2A>G XP_011516447.1:n.1195-2A>G
XM_011518145.2:c.1195-2A>G XP_011516447.1:n.1195-2A>G
XM_011518147.1:c.523-2A>G XP_011516449.1:n.523-2A>G
XM_017014205.2:c.454-2A>G XP_016869694.1:n.454-2A>G
XM_024447380.1:c.454-2A>G XP_024303148.1:n.454-2A>G
XM_024447381.1:c.760-2A>G XP_024303149.1:n.760-2A>G
XM_024447382.1:c.454-2A>G XP_024303150.1:n.454-2A>G
XR_001746160.2:n.1755-2A>G
XR_001746162.2:n.1960-2A>G
XR_001746164.1:n.1677-2A>G
XR_001746166.2:n.1972-2A>G
XR_929703.1:n.1827-2A>G