Canonical Allele Identifier: CA2692218847
Gene: POMT1 HGNC NCBI

Linked Data

gnomAD v4: 9-131521291-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131521291C>T , CM000671.2:g.131521291C>T GRCh38
NC_000009.11:g.134396678C>T , CM000671.1:g.134396678C>T GRCh37
NC_000009.10:g.133386499C>T NCBI36
NG_008896.1:g.23390C>T
NG_008896.2:g.23390C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1537-55C>T ENSP00000343034.7:n.1537-55C>T
ENST00000404875.7:n.2239-55C>T
ENST00000423007.6:c.1756-55C>T ENSP00000404119.2:n.1756-55C>T
ENST00000677295.2:c.*2043-55C>T ENSP00000504346.2:n.*2043-55C>T
ENST00000678264.2:c.*1882-55C>T ENSP00000503157.2:n.*1882-55C>T
ENST00000682070.1:n.2164-55C>T
ENST00000682813.1:n.2103-55C>T
ENST00000683392.1:n.4446-55C>T
ENST00000683712.1:n.2104-55C>T
ENST00000683900.1:n.3599-55C>T
ENST00000684062.1:n.2365-55C>T
ENST00000684579.1:n.3545-55C>T
ENST00000684679.1:n.926-55C>T
ENST00000341012.12:c.1537-55C>T ENSP00000343034.7:n.1537-55C>T
ENST00000372220.5:c.568-55C>T ENSP00000361294.5:n.568-55C>T
ENST00000372228.9:c.1765-55C>T ENSP00000361302.3:n.1765-55C>T
ENST00000402686.8:c.1699-55C>T MANE Select ENSP00000385797.4:n.1699-55C>T
ENST00000676640.1:c.1699-55C>T ENSP00000503281.1:n.1699-55C>T
ENST00000676803.1:c.760-55C>T ENSP00000503093.1:n.760-55C>T
ENST00000676835.1:c.*914-55C>T ENSP00000502911.1:n.*914-55C>T
ENST00000677029.1:c.1243-55C>T ENSP00000502936.1:n.1243-55C>T
ENST00000677099.1:c.*1409-55C>T ENSP00000504553.1:n.*1409-55C>T
ENST00000677216.1:c.1348-55C>T ENSP00000503772.1:n.1348-55C>T
ENST00000677221.1:n.724-55C>T
ENST00000677295.1:c.*1076-55C>T ENSP00000504346.1:n.*1076-55C>T
ENST00000677444.1:c.1644-55C>T
ENST00000677586.1:n.1066-55C>T
ENST00000677626.1:c.1348-55C>T ENSP00000503552.1:n.1348-55C>T
ENST00000677853.1:c.*707-55C>T ENSP00000503488.1:n.*707-55C>T
ENST00000678202.1:n.858-55C>T
ENST00000678264.1:c.*1076-55C>T ENSP00000503157.1:n.*1076-55C>T
ENST00000678303.1:c.1609-55C>T ENSP00000503696.1:n.1609-55C>T
ENST00000678366.1:c.*1948-55C>T ENSP00000504353.1:n.*1948-55C>T
ENST00000678546.1:c.*1644-55C>T ENSP00000503062.1:n.*1644-55C>T
ENST00000678548.1:c.*1771-55C>T ENSP00000503934.1:n.*1771-55C>T
ENST00000678626.1:n.1535-55C>T
ENST00000678739.1:c.*2020-55C>T ENSP00000503806.1:n.*2020-55C>T
ENST00000678833.1:c.*1451-55C>T ENSP00000503893.1:n.*1451-55C>T
ENST00000679023.1:c.1537-55C>T ENSP00000503718.1:n.1537-55C>T
ENST00000679076.1:c.1318-55C>T
ENST00000679111.1:c.*455-55C>T ENSP00000504257.1:n.*455-55C>T
ENST00000679189.1:c.1348-55C>T ENSP00000503356.1:n.1348-55C>T
ENST00000341012.11:c.1537-55C>T ENSP00000343034.7:n.1537-55C>T
ENST00000372220.4:c.562-55C>T ENSP00000361294.4:n.562-55C>T
ENST00000372228.7:c.1765-55C>T ENSP00000361302.3:n.1765-55C>T
ENST00000402686.7:c.1699-55C>T ENSP00000385797.3:n.1699-55C>T
ENST00000404875.6:c.1348-55C>T ENSP00000384531.2:n.1348-55C>T
ENST00000423007.5:c.1699-55C>T ENSP00000404119.1:n.1699-55C>T
ENST00000467848.1:n.403-55C>T
ENST00000485278.5:n.2249-55C>T
ENST00000494883.1:n.187C>T
NM_001077365.1:c.1699-55C>T NP_001070833.1:n.1699-55C>T
NM_001077366.1:c.1537-55C>T NP_001070834.1:n.1537-55C>T
NM_001136113.1:c.1699-55C>T NP_001129585.1:n.1699-55C>T
NM_001136114.1:c.1348-55C>T NP_001129586.1:n.1348-55C>T
NM_007171.3:c.1765-55C>T NP_009102.3:n.1765-55C>T
XM_005272156.1:c.1765-55C>T XP_005272213.1:n.1765-55C>T
XM_005272158.1:c.1603-55C>T XP_005272215.1:n.1603-55C>T
XM_005272159.1:c.1414-55C>T XP_005272216.1:n.1414-55C>T
XM_005272162.1:c.568-55C>T XP_005272219.1:n.568-55C>T
XM_006716932.1:c.1414-55C>T XP_006716995.1:n.1414-55C>T
XM_011518140.1:c.1618-55C>T XP_011516442.1:n.1618-55C>T
XM_011518141.1:c.1552-55C>T XP_011516443.1:n.1552-55C>T
XM_011518142.1:c.1456-55C>T XP_011516444.1:n.1456-55C>T
XM_011518143.1:c.1450-55C>T XP_011516445.1:n.1450-55C>T
XM_011518145.1:c.1309-55C>T XP_011516447.1:n.1309-55C>T
XM_011518147.1:c.637-55C>T XP_011516449.1:n.637-55C>T
XR_929703.1:n.1941-55C>T
NM_001353193.1:c.1765-55C>T NP_001340122.1:n.1765-55C>T
NM_001353194.1:c.1537-55C>T NP_001340123.1:n.1537-55C>T
NM_001353195.1:c.1348-55C>T NP_001340124.1:n.1348-55C>T
NM_001353196.1:c.1609-55C>T NP_001340125.1:n.1609-55C>T
NM_001353197.1:c.1603-55C>T NP_001340126.1:n.1603-55C>T
NM_001353198.1:c.1603-55C>T NP_001340127.1:n.1603-55C>T
NM_001353199.1:c.1414-55C>T NP_001340128.1:n.1414-55C>T
NM_001353200.1:c.1243-55C>T NP_001340129.1:n.1243-55C>T
NR_148391.1:n.1749-55C>T
NR_148392.1:n.1967-55C>T
NR_148393.1:n.1888-55C>T
NR_148394.1:n.1642-55C>T
NR_148395.1:n.2040-55C>T
NR_148396.1:n.1674-55C>T
NR_148397.1:n.1799-55C>T
NR_148398.1:n.1754-55C>T
NR_148399.1:n.2280-55C>T
NR_148400.1:n.1879-55C>T
XM_005272162.3:c.568-55C>T XP_005272219.1:n.568-55C>T
XM_006716932.2:c.1414-55C>T XP_006716995.1:n.1414-55C>T
XM_011518140.2:c.1618-55C>T XP_011516442.1:n.1618-55C>T
XM_011518141.2:c.1552-55C>T XP_011516443.1:n.1552-55C>T
XM_011518142.2:c.1456-55C>T XP_011516444.1:n.1456-55C>T
XM_011518143.2:c.1450-55C>T XP_011516445.1:n.1450-55C>T
XM_011518145.2:c.1309-55C>T XP_011516447.1:n.1309-55C>T
XM_017014205.2:c.568-55C>T XP_016869694.1:n.568-55C>T
XM_024447380.1:c.568-55C>T XP_024303148.1:n.568-55C>T
XM_024447381.1:c.874-55C>T XP_024303149.1:n.874-55C>T
XM_024447382.1:c.568-55C>T XP_024303150.1:n.568-55C>T
XR_001746160.2:n.1869-55C>T
XR_001746162.2:n.2074-55C>T
XR_001746164.1:n.1791-55C>T
XR_001746166.2:n.2086-55C>T
NM_001077365.2:c.1699-55C>T MANE Select NP_001070833.1:n.1699-55C>T
NM_001077366.2:c.1537-55C>T NP_001070834.1:n.1537-55C>T
NM_001136113.2:c.1699-55C>T NP_001129585.1:n.1699-55C>T
NM_001136114.2:c.1348-55C>T NP_001129586.1:n.1348-55C>T
NM_001353193.2:c.1765-55C>T NP_001340122.2:n.1765-55C>T
NM_001353194.2:c.1537-55C>T NP_001340123.1:n.1537-55C>T
NM_001353195.2:c.1348-55C>T NP_001340124.1:n.1348-55C>T
NM_001353196.2:c.1609-55C>T NP_001340125.1:n.1609-55C>T
NM_001353197.2:c.1603-55C>T NP_001340126.2:n.1603-55C>T
NM_001353198.2:c.1603-55C>T NP_001340127.2:n.1603-55C>T
NM_001353199.2:c.1414-55C>T NP_001340128.2:n.1414-55C>T
NM_001353200.2:c.1243-55C>T NP_001340129.1:n.1243-55C>T
NM_001374689.1:c.1687-55C>T NP_001361618.1:n.1687-55C>T
NM_001374690.1:c.1480-55C>T NP_001361619.1:n.1480-55C>T
NM_001374691.1:c.1348-55C>T NP_001361620.1:n.1348-55C>T
NM_001374692.1:c.1348-55C>T NP_001361621.1:n.1348-55C>T
NM_001374693.1:c.1348-55C>T NP_001361622.1:n.1348-55C>T
NM_001374695.1:c.1309-55C>T NP_001361624.1:n.1309-55C>T
NM_007171.4:c.1765-55C>T NP_009102.4:n.1765-55C>T
NR_148391.2:n.1733-55C>T
NR_148392.2:n.1951-55C>T
NR_148393.2:n.1872-55C>T
NR_148394.2:n.1626-55C>T
NR_148395.2:n.2024-55C>T
NR_148396.2:n.1658-55C>T
NR_148397.2:n.1783-55C>T
NR_148398.2:n.1738-55C>T
NR_148399.2:n.2264-55C>T
NR_148400.2:n.1863-55C>T
Search 100 bp 5'
Search 100 bp 3'