Canonical Allele Identifier: CA375314555
Gene: POMT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131522167C>G , CM000671.2:g.131522167C>G GRCh38
NC_000009.11:g.134397554C>G , CM000671.1:g.134397554C>G GRCh37
NC_000009.10:g.133387375C>G NCBI36
NG_008896.1:g.24266C>G
NG_008896.2:g.24266C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1784C>G ENSP00000343034.7:p.Thr595Ser
ENST00000404875.7:n.2486C>G
ENST00000423007.6:c.2003C>G ENSP00000404119.2:p.Thr668Ser
ENST00000677295.2:c.*2290C>G ENSP00000504346.2:n.*2290C>G
ENST00000678264.2:c.*2129C>G ENSP00000503157.2:n.*2129C>G
ENST00000682070.1:n.2291-35C>G
ENST00000682813.1:n.2350C>G
ENST00000683392.1:n.4573-35C>G
ENST00000683712.1:n.2351C>G
ENST00000683900.1:n.3846C>G
ENST00000684062.1:n.2612C>G
ENST00000684579.1:n.3792C>G
ENST00000684679.1:n.1173C>G
ENST00000341012.12:c.1784C>G ENSP00000343034.7:p.Thr595Ser
ENST00000372220.5:c.815C>G ENSP00000361294.5:p.Thr272Ser
ENST00000372228.9:c.2012C>G ENSP00000361302.3:p.Thr671Ser
ENST00000402686.8:c.1946C>G MANE Select ENSP00000385797.4:p.Thr649Ser
ENST00000676640.1:c.1946C>G ENSP00000503281.1:p.Thr649Ser
ENST00000676803.1:c.1007C>G ENSP00000503093.1:p.Thr336Ser
ENST00000676835.1:c.*1161C>G ENSP00000502911.1:n.*1161C>G
ENST00000677029.1:c.1490C>G ENSP00000502936.1:p.Thr497Ser
ENST00000677099.1:c.*1656C>G ENSP00000504553.1:n.*1656C>G
ENST00000677216.1:c.1595C>G ENSP00000503772.1:p.Thr532Ser
ENST00000677221.1:n.971C>G
ENST00000677295.1:c.*1203-35C>G ENSP00000504346.1:n.*1203-35C>G
ENST00000677444.1:c.1891C>G
ENST00000677586.1:n.1313C>G
ENST00000677626.1:c.1595C>G ENSP00000503552.1:p.Thr532Ser
ENST00000677853.1:c.*954C>G ENSP00000503488.1:n.*954C>G
ENST00000678202.1:n.1105C>G
ENST00000678264.1:c.*1323C>G ENSP00000503157.1:n.*1323C>G
ENST00000678303.1:c.1856C>G ENSP00000503696.1:p.Thr619Ser
ENST00000678366.1:c.*2195C>G ENSP00000504353.1:n.*2195C>G
ENST00000678546.1:c.*1891C>G ENSP00000503062.1:n.*1891C>G
ENST00000678548.1:c.*2085C>G ENSP00000503934.1:n.*2085C>G
ENST00000678626.1:n.1782C>G
ENST00000678739.1:c.*2147-35C>G ENSP00000503806.1:n.*2147-35C>G
ENST00000678833.1:c.*1698C>G ENSP00000503893.1:n.*1698C>G
ENST00000679023.1:c.1784C>G ENSP00000503718.1:p.Thr595Ser
ENST00000679076.1:c.1565C>G
ENST00000679111.1:c.*702C>G ENSP00000504257.1:n.*702C>G
ENST00000679189.1:c.1595C>G ENSP00000503356.1:p.Thr532Ser
ENST00000341012.11:c.1784C>G ENSP00000343034.7:p.Thr595Ser
ENST00000372220.4:c.809C>G ENSP00000361294.4:p.Thr270Ser
ENST00000372228.7:c.2012C>G ENSP00000361302.3:p.Thr671Ser
ENST00000402686.7:c.1946C>G ENSP00000385797.3:p.Thr649Ser
ENST00000404875.6:c.1595C>G ENSP00000384531.2:p.Thr532Ser
ENST00000423007.5:c.1946C>G ENSP00000404119.1:p.Thr649Ser
ENST00000485278.5:n.2496C>G
ENST00000494883.1:n.489C>G
NM_001077365.1:c.1946C>G NP_001070833.1:p.Thr649Ser
NM_001077366.1:c.1784C>G NP_001070834.1:p.Thr595Ser
NM_001136113.1:c.1946C>G NP_001129585.1:p.Thr649Ser
NM_001136114.1:c.1595C>G NP_001129586.1:p.Thr532Ser
NM_007171.3:c.2012C>G NP_009102.3:p.Thr671Ser
XM_005272156.1:c.2012C>G XP_005272213.1:p.Thr671Ser
XM_005272158.1:c.1850C>G XP_005272215.1:p.Thr617Ser
XM_005272159.1:c.1661C>G XP_005272216.1:p.Thr554Ser
XM_005272162.1:c.815C>G XP_005272219.1:p.Thr272Ser
XM_006716932.1:c.1661C>G XP_006716995.1:p.Thr554Ser
XM_011518140.1:c.1865C>G XP_011516442.1:p.Thr622Ser
XM_011518141.1:c.1799C>G XP_011516443.1:p.Thr600Ser
XM_011518142.1:c.1703C>G XP_011516444.1:p.Thr568Ser
XM_011518143.1:c.1697C>G XP_011516445.1:p.Thr566Ser
XM_011518145.1:c.1556C>G XP_011516447.1:p.Thr519Ser
XM_011518147.1:c.884C>G XP_011516449.1:p.Thr295Ser
XR_929703.1:n.2188C>G
NM_001353193.1:c.2012C>G NP_001340122.1:p.Thr671Ser
NM_001353194.1:c.1784C>G NP_001340123.1:p.Thr595Ser
NM_001353195.1:c.1595C>G NP_001340124.1:p.Thr532Ser
NM_001353196.1:c.1856C>G NP_001340125.1:p.Thr619Ser
NM_001353197.1:c.1850C>G NP_001340126.1:p.Thr617Ser
NM_001353198.1:c.1850C>G NP_001340127.1:p.Thr617Ser
NM_001353199.1:c.1661C>G NP_001340128.1:p.Thr554Ser
NM_001353200.1:c.1490C>G NP_001340129.1:p.Thr497Ser
NR_148391.1:n.1996C>G
NR_148392.1:n.2214C>G
NR_148393.1:n.2135C>G
NR_148394.1:n.1889C>G
NR_148395.1:n.2287C>G
NR_148396.1:n.1921C>G
NR_148397.1:n.2046C>G
NR_148398.1:n.2001C>G
NR_148399.1:n.2527C>G
NR_148400.1:n.2126C>G
XM_005272162.3:c.815C>G XP_005272219.1:p.Thr272Ser
XM_006716932.2:c.1661C>G XP_006716995.1:p.Thr554Ser
XM_011518140.2:c.1865C>G XP_011516442.1:p.Thr622Ser
XM_011518141.2:c.1799C>G XP_011516443.1:p.Thr600Ser
XM_011518142.2:c.1703C>G XP_011516444.1:p.Thr568Ser
XM_011518143.2:c.1697C>G XP_011516445.1:p.Thr566Ser
XM_011518145.2:c.1556C>G XP_011516447.1:p.Thr519Ser
XM_017014205.2:c.815C>G XP_016869694.1:p.Thr272Ser
XM_024447380.1:c.815C>G XP_024303148.1:p.Thr272Ser
XM_024447381.1:c.1121C>G XP_024303149.1:p.Thr374Ser
XM_024447382.1:c.815C>G XP_024303150.1:p.Thr272Ser
XR_001746160.2:n.2116C>G
XR_001746162.2:n.2321C>G
XR_001746164.1:n.2038C>G
XR_001746166.2:n.2333C>G
NM_001077365.2:c.1946C>G MANE Select NP_001070833.1:p.Thr649Ser
NM_001077366.2:c.1784C>G NP_001070834.1:p.Thr595Ser
NM_001136113.2:c.1946C>G NP_001129585.1:p.Thr649Ser
NM_001136114.2:c.1595C>G NP_001129586.1:p.Thr532Ser
NM_001353193.2:c.2012C>G NP_001340122.2:p.Thr671Ser
NM_001353194.2:c.1784C>G NP_001340123.1:p.Thr595Ser
NM_001353195.2:c.1595C>G NP_001340124.1:p.Thr532Ser
NM_001353196.2:c.1856C>G NP_001340125.1:p.Thr619Ser
NM_001353197.2:c.1850C>G NP_001340126.2:p.Thr617Ser
NM_001353198.2:c.1850C>G NP_001340127.2:p.Thr617Ser
NM_001353199.2:c.1661C>G NP_001340128.2:p.Thr554Ser
NM_001353200.2:c.1490C>G NP_001340129.1:p.Thr497Ser
NM_001374689.1:c.1934C>G NP_001361618.1:p.Thr645Ser
NM_001374690.1:c.1727C>G NP_001361619.1:p.Thr576Ser
NM_001374691.1:c.1595C>G NP_001361620.1:p.Thr532Ser
NM_001374692.1:c.1595C>G NP_001361621.1:p.Thr532Ser
NM_001374693.1:c.1595C>G NP_001361622.1:p.Thr532Ser
NM_001374695.1:c.1556C>G NP_001361624.1:p.Thr519Ser
NM_007171.4:c.2012C>G NP_009102.4:p.Thr671Ser
NR_148391.2:n.1980C>G
NR_148392.2:n.2198C>G
NR_148393.2:n.2119C>G
NR_148394.2:n.1873C>G
NR_148395.2:n.2271C>G
NR_148396.2:n.1905C>G
NR_148397.2:n.2030C>G
NR_148398.2:n.1985C>G
NR_148399.2:n.2511C>G
NR_148400.2:n.2110C>G