Canonical Allele Identifier: CA154753
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 130011
dbSNP Id: rs12115566

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131522077C>T , CM000671.2:g.131522077C>T GRCh38
NC_000009.11:g.134397464C>T , CM000671.1:g.134397464C>T GRCh37
NC_000009.10:g.133387285C>T NCBI36
NG_008896.1:g.24176C>T
NG_008896.2:g.24176C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000341012.13:c.1694C>T ENSP00000343034.7:p.Ala565Val
ENST00000404875.7:n.2396C>T
ENST00000423007.6:c.1913C>T ENSP00000404119.2:p.Ala638Val
ENST00000677295.2:c.*2200C>T ENSP00000504346.2:n.*2200C>T
ENST00000678264.2:c.*2039C>T ENSP00000503157.2:n.*2039C>T
ENST00000682070.1:n.2291-125C>T
ENST00000682813.1:n.2260C>T
ENST00000683392.1:n.4573-125C>T
ENST00000683712.1:n.2261C>T
ENST00000683900.1:n.3756C>T
ENST00000684062.1:n.2522C>T
ENST00000684579.1:n.3702C>T
ENST00000684679.1:n.1083C>T
ENST00000341012.12:c.1694C>T ENSP00000343034.7:p.Ala565Val
ENST00000372220.5:c.725C>T ENSP00000361294.5:p.Ala242Val
ENST00000372228.9:c.1922C>T ENSP00000361302.3:p.Ala641Val
ENST00000402686.8:c.1856C>T MANE Select ENSP00000385797.4:p.Ala619Val
ENST00000676640.1:c.1856C>T ENSP00000503281.1:p.Ala619Val
ENST00000676803.1:c.917C>T ENSP00000503093.1:p.Ala306Val
ENST00000676835.1:c.*1071C>T ENSP00000502911.1:n.*1071C>T
ENST00000677029.1:c.1400C>T ENSP00000502936.1:p.Ala467Val
ENST00000677099.1:c.*1566C>T ENSP00000504553.1:n.*1566C>T
ENST00000677216.1:c.1505C>T ENSP00000503772.1:p.Ala502Val
ENST00000677221.1:n.881C>T
ENST00000677295.1:c.*1203-125C>T ENSP00000504346.1:n.*1203-125C>T
ENST00000677444.1:c.1801C>T
ENST00000677586.1:n.1223C>T
ENST00000677626.1:c.1505C>T ENSP00000503552.1:p.Ala502Val
ENST00000677853.1:c.*864C>T ENSP00000503488.1:n.*864C>T
ENST00000678202.1:n.1015C>T
ENST00000678264.1:c.*1233C>T ENSP00000503157.1:n.*1233C>T
ENST00000678303.1:c.1766C>T ENSP00000503696.1:p.Ala589Val
ENST00000678366.1:c.*2105C>T ENSP00000504353.1:n.*2105C>T
ENST00000678546.1:c.*1801C>T ENSP00000503062.1:n.*1801C>T
ENST00000678548.1:c.*1995C>T ENSP00000503934.1:n.*1995C>T
ENST00000678626.1:n.1692C>T
ENST00000678739.1:c.*2147-125C>T ENSP00000503806.1:n.*2147-125C>T
ENST00000678833.1:c.*1608C>T ENSP00000503893.1:n.*1608C>T
ENST00000679023.1:c.1694C>T ENSP00000503718.1:p.Ala565Val
ENST00000679076.1:c.1475C>T
ENST00000679111.1:c.*612C>T ENSP00000504257.1:n.*612C>T
ENST00000679189.1:c.1505C>T ENSP00000503356.1:p.Ala502Val
ENST00000341012.11:c.1694C>T ENSP00000343034.7:p.Ala565Val
ENST00000372220.4:c.719C>T ENSP00000361294.4:p.Ala240Val
ENST00000372228.7:c.1922C>T ENSP00000361302.3:p.Ala641Val
ENST00000402686.7:c.1856C>T ENSP00000385797.3:p.Ala619Val
ENST00000404875.6:c.1505C>T ENSP00000384531.2:p.Ala502Val
ENST00000423007.5:c.1856C>T ENSP00000404119.1:p.Ala619Val
ENST00000485278.5:n.2406C>T
ENST00000494883.1:n.399C>T
NM_001077365.1:c.1856C>T NP_001070833.1:p.Ala619Val
NM_001077366.1:c.1694C>T NP_001070834.1:p.Ala565Val
NM_001136113.1:c.1856C>T NP_001129585.1:p.Ala619Val
NM_001136114.1:c.1505C>T NP_001129586.1:p.Ala502Val
NM_007171.3:c.1922C>T NP_009102.3:p.Ala641Val
XM_005272156.1:c.1922C>T XP_005272213.1:p.Ala641Val
XM_005272158.1:c.1760C>T XP_005272215.1:p.Ala587Val
XM_005272159.1:c.1571C>T XP_005272216.1:p.Ala524Val
XM_005272162.1:c.725C>T XP_005272219.1:p.Ala242Val
XM_006716932.1:c.1571C>T XP_006716995.1:p.Ala524Val
XM_011518140.1:c.1775C>T XP_011516442.1:p.Ala592Val
XM_011518141.1:c.1709C>T XP_011516443.1:p.Ala570Val
XM_011518142.1:c.1613C>T XP_011516444.1:p.Ala538Val
XM_011518143.1:c.1607C>T XP_011516445.1:p.Ala536Val
XM_011518145.1:c.1466C>T XP_011516447.1:p.Ala489Val
XM_011518147.1:c.794C>T XP_011516449.1:p.Ala265Val
XR_929703.1:n.2098C>T
NM_001353193.1:c.1922C>T NP_001340122.1:p.Ala641Val
NM_001353194.1:c.1694C>T NP_001340123.1:p.Ala565Val
NM_001353195.1:c.1505C>T NP_001340124.1:p.Ala502Val
NM_001353196.1:c.1766C>T NP_001340125.1:p.Ala589Val
NM_001353197.1:c.1760C>T NP_001340126.1:p.Ala587Val
NM_001353198.1:c.1760C>T NP_001340127.1:p.Ala587Val
NM_001353199.1:c.1571C>T NP_001340128.1:p.Ala524Val
NM_001353200.1:c.1400C>T NP_001340129.1:p.Ala467Val
NR_148391.1:n.1906C>T
NR_148392.1:n.2124C>T
NR_148393.1:n.2045C>T
NR_148394.1:n.1799C>T
NR_148395.1:n.2197C>T
NR_148396.1:n.1831C>T
NR_148397.1:n.1956C>T
NR_148398.1:n.1911C>T
NR_148399.1:n.2437C>T
NR_148400.1:n.2036C>T
XM_005272162.3:c.725C>T XP_005272219.1:p.Ala242Val
XM_006716932.2:c.1571C>T XP_006716995.1:p.Ala524Val
XM_011518140.2:c.1775C>T XP_011516442.1:p.Ala592Val
XM_011518141.2:c.1709C>T XP_011516443.1:p.Ala570Val
XM_011518142.2:c.1613C>T XP_011516444.1:p.Ala538Val
XM_011518143.2:c.1607C>T XP_011516445.1:p.Ala536Val
XM_011518145.2:c.1466C>T XP_011516447.1:p.Ala489Val
XM_017014205.2:c.725C>T XP_016869694.1:p.Ala242Val
XM_024447380.1:c.725C>T XP_024303148.1:p.Ala242Val
XM_024447381.1:c.1031C>T XP_024303149.1:p.Ala344Val
XM_024447382.1:c.725C>T XP_024303150.1:p.Ala242Val
XR_001746160.2:n.2026C>T
XR_001746162.2:n.2231C>T
XR_001746164.1:n.1948C>T
XR_001746166.2:n.2243C>T
NM_001077365.2:c.1856C>T MANE Select NP_001070833.1:p.Ala619Val
NM_001077366.2:c.1694C>T NP_001070834.1:p.Ala565Val
NM_001136113.2:c.1856C>T NP_001129585.1:p.Ala619Val
NM_001136114.2:c.1505C>T NP_001129586.1:p.Ala502Val
NM_001353193.2:c.1922C>T NP_001340122.2:p.Ala641Val
NM_001353194.2:c.1694C>T NP_001340123.1:p.Ala565Val
NM_001353195.2:c.1505C>T NP_001340124.1:p.Ala502Val
NM_001353196.2:c.1766C>T NP_001340125.1:p.Ala589Val
NM_001353197.2:c.1760C>T NP_001340126.2:p.Ala587Val
NM_001353198.2:c.1760C>T NP_001340127.2:p.Ala587Val
NM_001353199.2:c.1571C>T NP_001340128.2:p.Ala524Val
NM_001353200.2:c.1400C>T NP_001340129.1:p.Ala467Val
NM_001374689.1:c.1844C>T NP_001361618.1:p.Ala615Val
NM_001374690.1:c.1637C>T NP_001361619.1:p.Ala546Val
NM_001374691.1:c.1505C>T NP_001361620.1:p.Ala502Val
NM_001374692.1:c.1505C>T NP_001361621.1:p.Ala502Val
NM_001374693.1:c.1505C>T NP_001361622.1:p.Ala502Val
NM_001374695.1:c.1466C>T NP_001361624.1:p.Ala489Val
NM_007171.4:c.1922C>T NP_009102.4:p.Ala641Val
NR_148391.2:n.1890C>T
NR_148392.2:n.2108C>T
NR_148393.2:n.2029C>T
NR_148394.2:n.1783C>T
NR_148395.2:n.2181C>T
NR_148396.2:n.1815C>T
NR_148397.2:n.1940C>T
NR_148398.2:n.1895C>T
NR_148399.2:n.2421C>T
NR_148400.2:n.2020C>T