Canonical Allele Identifier: CA375314120
Gene: POMT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131522053G>C , CM000671.2:g.131522053G>C GRCh38
NC_000009.11:g.134397440G>C , CM000671.1:g.134397440G>C GRCh37
NC_000009.10:g.133387261G>C NCBI36
NG_008896.1:g.24152G>C
NG_008896.2:g.24152G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000341012.13:c.1670G>C ENSP00000343034.7:p.Trp557Ser
ENST00000404875.7:n.2372G>C
ENST00000423007.6:c.1889G>C ENSP00000404119.2:p.Trp630Ser
ENST00000677295.2:c.*2176G>C ENSP00000504346.2:n.*2176G>C
ENST00000678264.2:c.*2015G>C ENSP00000503157.2:n.*2015G>C
ENST00000682070.1:n.2291-149G>C
ENST00000682813.1:n.2236G>C
ENST00000683392.1:n.4573-149G>C
ENST00000683712.1:n.2237G>C
ENST00000683900.1:n.3732G>C
ENST00000684062.1:n.2498G>C
ENST00000684579.1:n.3678G>C
ENST00000684679.1:n.1059G>C
ENST00000341012.12:c.1670G>C ENSP00000343034.7:p.Trp557Ser
ENST00000372220.5:c.701G>C ENSP00000361294.5:p.Trp234Ser
ENST00000372228.9:c.1898G>C ENSP00000361302.3:p.Trp633Ser
ENST00000402686.8:c.1832G>C MANE Select ENSP00000385797.4:p.Trp611Ser
ENST00000676640.1:c.1832G>C ENSP00000503281.1:p.Trp611Ser
ENST00000676803.1:c.893G>C ENSP00000503093.1:p.Trp298Ser
ENST00000676835.1:c.*1047G>C ENSP00000502911.1:n.*1047G>C
ENST00000677029.1:c.1376G>C ENSP00000502936.1:p.Trp459Ser
ENST00000677099.1:c.*1542G>C ENSP00000504553.1:n.*1542G>C
ENST00000677216.1:c.1481G>C ENSP00000503772.1:p.Trp494Ser
ENST00000677221.1:n.857G>C
ENST00000677295.1:c.*1203-149G>C ENSP00000504346.1:n.*1203-149G>C
ENST00000677444.1:c.1777G>C
ENST00000677586.1:n.1199G>C
ENST00000677626.1:c.1481G>C ENSP00000503552.1:p.Trp494Ser
ENST00000677853.1:c.*840G>C ENSP00000503488.1:n.*840G>C
ENST00000678202.1:n.991G>C
ENST00000678264.1:c.*1209G>C ENSP00000503157.1:n.*1209G>C
ENST00000678303.1:c.1742G>C ENSP00000503696.1:p.Trp581Ser
ENST00000678366.1:c.*2081G>C ENSP00000504353.1:n.*2081G>C
ENST00000678546.1:c.*1777G>C ENSP00000503062.1:n.*1777G>C
ENST00000678548.1:c.*1971G>C ENSP00000503934.1:n.*1971G>C
ENST00000678626.1:n.1668G>C
ENST00000678739.1:c.*2147-149G>C ENSP00000503806.1:n.*2147-149G>C
ENST00000678833.1:c.*1584G>C ENSP00000503893.1:n.*1584G>C
ENST00000679023.1:c.1670G>C ENSP00000503718.1:p.Trp557Ser
ENST00000679076.1:c.1451G>C
ENST00000679111.1:c.*588G>C ENSP00000504257.1:n.*588G>C
ENST00000679189.1:c.1481G>C ENSP00000503356.1:p.Trp494Ser
ENST00000341012.11:c.1670G>C ENSP00000343034.7:p.Trp557Ser
ENST00000372220.4:c.695G>C ENSP00000361294.4:p.Trp232Ser
ENST00000372228.7:c.1898G>C ENSP00000361302.3:p.Trp633Ser
ENST00000402686.7:c.1832G>C ENSP00000385797.3:p.Trp611Ser
ENST00000404875.6:c.1481G>C ENSP00000384531.2:p.Trp494Ser
ENST00000423007.5:c.1832G>C ENSP00000404119.1:p.Trp611Ser
ENST00000485278.5:n.2382G>C
ENST00000494883.1:n.375G>C
NM_001077365.1:c.1832G>C NP_001070833.1:p.Trp611Ser
NM_001077366.1:c.1670G>C NP_001070834.1:p.Trp557Ser
NM_001136113.1:c.1832G>C NP_001129585.1:p.Trp611Ser
NM_001136114.1:c.1481G>C NP_001129586.1:p.Trp494Ser
NM_007171.3:c.1898G>C NP_009102.3:p.Trp633Ser
XM_005272156.1:c.1898G>C XP_005272213.1:p.Trp633Ser
XM_005272158.1:c.1736G>C XP_005272215.1:p.Trp579Ser
XM_005272159.1:c.1547G>C XP_005272216.1:p.Trp516Ser
XM_005272162.1:c.701G>C XP_005272219.1:p.Trp234Ser
XM_006716932.1:c.1547G>C XP_006716995.1:p.Trp516Ser
XM_011518140.1:c.1751G>C XP_011516442.1:p.Trp584Ser
XM_011518141.1:c.1685G>C XP_011516443.1:p.Trp562Ser
XM_011518142.1:c.1589G>C XP_011516444.1:p.Trp530Ser
XM_011518143.1:c.1583G>C XP_011516445.1:p.Trp528Ser
XM_011518145.1:c.1442G>C XP_011516447.1:p.Trp481Ser
XM_011518147.1:c.770G>C XP_011516449.1:p.Trp257Ser
XR_929703.1:n.2074G>C
NM_001353193.1:c.1898G>C NP_001340122.1:p.Trp633Ser
NM_001353194.1:c.1670G>C NP_001340123.1:p.Trp557Ser
NM_001353195.1:c.1481G>C NP_001340124.1:p.Trp494Ser
NM_001353196.1:c.1742G>C NP_001340125.1:p.Trp581Ser
NM_001353197.1:c.1736G>C NP_001340126.1:p.Trp579Ser
NM_001353198.1:c.1736G>C NP_001340127.1:p.Trp579Ser
NM_001353199.1:c.1547G>C NP_001340128.1:p.Trp516Ser
NM_001353200.1:c.1376G>C NP_001340129.1:p.Trp459Ser
NR_148391.1:n.1882G>C
NR_148392.1:n.2100G>C
NR_148393.1:n.2021G>C
NR_148394.1:n.1775G>C
NR_148395.1:n.2173G>C
NR_148396.1:n.1807G>C
NR_148397.1:n.1932G>C
NR_148398.1:n.1887G>C
NR_148399.1:n.2413G>C
NR_148400.1:n.2012G>C
XM_005272162.3:c.701G>C XP_005272219.1:p.Trp234Ser
XM_006716932.2:c.1547G>C XP_006716995.1:p.Trp516Ser
XM_011518140.2:c.1751G>C XP_011516442.1:p.Trp584Ser
XM_011518141.2:c.1685G>C XP_011516443.1:p.Trp562Ser
XM_011518142.2:c.1589G>C XP_011516444.1:p.Trp530Ser
XM_011518143.2:c.1583G>C XP_011516445.1:p.Trp528Ser
XM_011518145.2:c.1442G>C XP_011516447.1:p.Trp481Ser
XM_017014205.2:c.701G>C XP_016869694.1:p.Trp234Ser
XM_024447380.1:c.701G>C XP_024303148.1:p.Trp234Ser
XM_024447381.1:c.1007G>C XP_024303149.1:p.Trp336Ser
XM_024447382.1:c.701G>C XP_024303150.1:p.Trp234Ser
XR_001746160.2:n.2002G>C
XR_001746162.2:n.2207G>C
XR_001746164.1:n.1924G>C
XR_001746166.2:n.2219G>C
NM_001077365.2:c.1832G>C MANE Select NP_001070833.1:p.Trp611Ser
NM_001077366.2:c.1670G>C NP_001070834.1:p.Trp557Ser
NM_001136113.2:c.1832G>C NP_001129585.1:p.Trp611Ser
NM_001136114.2:c.1481G>C NP_001129586.1:p.Trp494Ser
NM_001353193.2:c.1898G>C NP_001340122.2:p.Trp633Ser
NM_001353194.2:c.1670G>C NP_001340123.1:p.Trp557Ser
NM_001353195.2:c.1481G>C NP_001340124.1:p.Trp494Ser
NM_001353196.2:c.1742G>C NP_001340125.1:p.Trp581Ser
NM_001353197.2:c.1736G>C NP_001340126.2:p.Trp579Ser
NM_001353198.2:c.1736G>C NP_001340127.2:p.Trp579Ser
NM_001353199.2:c.1547G>C NP_001340128.2:p.Trp516Ser
NM_001353200.2:c.1376G>C NP_001340129.1:p.Trp459Ser
NM_001374689.1:c.1820G>C NP_001361618.1:p.Trp607Ser
NM_001374690.1:c.1613G>C NP_001361619.1:p.Trp538Ser
NM_001374691.1:c.1481G>C NP_001361620.1:p.Trp494Ser
NM_001374692.1:c.1481G>C NP_001361621.1:p.Trp494Ser
NM_001374693.1:c.1481G>C NP_001361622.1:p.Trp494Ser
NM_001374695.1:c.1442G>C NP_001361624.1:p.Trp481Ser
NM_007171.4:c.1898G>C NP_009102.4:p.Trp633Ser
NR_148391.2:n.1866G>C
NR_148392.2:n.2084G>C
NR_148393.2:n.2005G>C
NR_148394.2:n.1759G>C
NR_148395.2:n.2157G>C
NR_148396.2:n.1791G>C
NR_148397.2:n.1916G>C
NR_148398.2:n.1871G>C
NR_148399.2:n.2397G>C
NR_148400.2:n.1996G>C