Canonical Allele Identifier: CA375315011
Gene: POMT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131522964T>G , CM000671.2:g.131522964T>G GRCh38
NC_000009.11:g.134398351T>G , CM000671.1:g.134398351T>G GRCh37
NC_000009.10:g.133388172T>G NCBI36
NG_008896.1:g.25063T>G
NG_008896.2:g.25063T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.1874T>G ENSP00000343034.7:p.Leu625Arg
ENST00000404875.7:n.2576T>G
ENST00000423007.6:c.2093T>G ENSP00000404119.2:p.Leu698Arg
ENST00000677295.2:c.*2380T>G ENSP00000504346.2:n.*2380T>G
ENST00000678264.2:c.*2219T>G ENSP00000503157.2:n.*2219T>G
ENST00000682070.1:n.2346T>G
ENST00000682639.1:c.33T>G
ENST00000682813.1:n.2433T>G
ENST00000683231.1:c.33T>G
ENST00000683392.1:n.4628T>G
ENST00000683712.1:n.2441T>G
ENST00000683900.1:n.3936T>G
ENST00000684062.1:n.2702T>G
ENST00000684399.1:c.33T>G
ENST00000684579.1:n.3882T>G
ENST00000341012.12:c.1874T>G ENSP00000343034.7:p.Leu625Arg
ENST00000372220.5:c.905T>G ENSP00000361294.5:p.Leu302Arg
ENST00000372228.9:c.2102T>G ENSP00000361302.3:p.Leu701Arg
ENST00000402686.8:c.2036T>G MANE Select ENSP00000385797.4:p.Leu679Arg
ENST00000676640.1:c.2036T>G ENSP00000503281.1:p.Leu679Arg
ENST00000676803.1:c.1097T>G ENSP00000503093.1:p.Leu366Arg
ENST00000676835.1:c.*1251T>G ENSP00000502911.1:n.*1251T>G
ENST00000677029.1:c.1580T>G ENSP00000502936.1:p.Leu527Arg
ENST00000677099.1:c.*1746T>G ENSP00000504553.1:n.*1746T>G
ENST00000677216.1:c.1685T>G ENSP00000503772.1:p.Leu562Arg
ENST00000677221.1:n.1061T>G
ENST00000677295.1:c.*1258T>G ENSP00000504346.1:n.*1258T>G
ENST00000677444.1:c.1981T>G
ENST00000677586.1:n.1403T>G
ENST00000677626.1:c.1685T>G ENSP00000503552.1:p.Leu562Arg
ENST00000677853.1:c.*1044T>G ENSP00000503488.1:n.*1044T>G
ENST00000678264.1:c.*1413T>G ENSP00000503157.1:n.*1413T>G
ENST00000678303.1:c.1946T>G ENSP00000503696.1:p.Leu649Arg
ENST00000678366.1:c.*2285T>G ENSP00000504353.1:n.*2285T>G
ENST00000678546.1:c.*1981T>G ENSP00000503062.1:n.*1981T>G
ENST00000678548.1:c.*2175T>G ENSP00000503934.1:n.*2175T>G
ENST00000678626.1:n.1872T>G
ENST00000678739.1:c.*2202T>G ENSP00000503806.1:n.*2202T>G
ENST00000678833.1:c.*1788T>G ENSP00000503893.1:n.*1788T>G
ENST00000679023.1:c.1874T>G ENSP00000503718.1:p.Leu625Arg
ENST00000679076.1:c.1655T>G
ENST00000679111.1:c.*792T>G ENSP00000504257.1:n.*792T>G
ENST00000679189.1:c.1685T>G ENSP00000503356.1:p.Leu562Arg
ENST00000341012.11:c.1874T>G ENSP00000343034.7:p.Leu625Arg
ENST00000372220.4:c.899T>G ENSP00000361294.4:p.Leu300Arg
ENST00000372228.7:c.2102T>G ENSP00000361302.3:p.Leu701Arg
ENST00000402686.7:c.2036T>G ENSP00000385797.3:p.Leu679Arg
ENST00000404875.6:c.1685T>G ENSP00000384531.2:p.Leu562Arg
ENST00000423007.5:c.2036T>G ENSP00000404119.1:p.Leu679Arg
ENST00000485278.5:n.2586T>G
NM_001077365.1:c.2036T>G NP_001070833.1:p.Leu679Arg
NM_001077366.1:c.1874T>G NP_001070834.1:p.Leu625Arg
NM_001136113.1:c.2036T>G NP_001129585.1:p.Leu679Arg
NM_001136114.1:c.1685T>G NP_001129586.1:p.Leu562Arg
NM_007171.3:c.2102T>G NP_009102.3:p.Leu701Arg
XM_005272156.1:c.2102T>G XP_005272213.1:p.Leu701Arg
XM_005272158.1:c.1940T>G XP_005272215.1:p.Leu647Arg
XM_005272159.1:c.1751T>G XP_005272216.1:p.Leu584Arg
XM_005272162.1:c.905T>G XP_005272219.1:p.Leu302Arg
XM_006716932.1:c.1751T>G XP_006716995.1:p.Leu584Arg
XM_011518140.1:c.1955T>G XP_011516442.1:p.Leu652Arg
XM_011518141.1:c.1889T>G XP_011516443.1:p.Leu630Arg
XM_011518142.1:c.1793T>G XP_011516444.1:p.Leu598Arg
XM_011518143.1:c.1787T>G XP_011516445.1:p.Leu596Arg
XM_011518145.1:c.1646T>G XP_011516447.1:p.Leu549Arg
XM_011518147.1:c.974T>G XP_011516449.1:p.Leu325Arg
XR_929703.1:n.2278T>G
NM_001353193.1:c.2102T>G NP_001340122.1:p.Leu701Arg
NM_001353194.1:c.1874T>G NP_001340123.1:p.Leu625Arg
NM_001353195.1:c.1685T>G NP_001340124.1:p.Leu562Arg
NM_001353196.1:c.1946T>G NP_001340125.1:p.Leu649Arg
NM_001353197.1:c.1940T>G NP_001340126.1:p.Leu647Arg
NM_001353198.1:c.1940T>G NP_001340127.1:p.Leu647Arg
NM_001353199.1:c.1751T>G NP_001340128.1:p.Leu584Arg
NM_001353200.1:c.1580T>G NP_001340129.1:p.Leu527Arg
NR_148391.1:n.2086T>G
NR_148392.1:n.2304T>G
NR_148393.1:n.2225T>G
NR_148394.1:n.1979T>G
NR_148395.1:n.2377T>G
NR_148396.1:n.2011T>G
NR_148397.1:n.2136T>G
NR_148398.1:n.2091T>G
NR_148399.1:n.2617T>G
NR_148400.1:n.2216T>G
XM_005272162.3:c.905T>G XP_005272219.1:p.Leu302Arg
XM_006716932.2:c.1751T>G XP_006716995.1:p.Leu584Arg
XM_011518140.2:c.1955T>G XP_011516442.1:p.Leu652Arg
XM_011518141.2:c.1889T>G XP_011516443.1:p.Leu630Arg
XM_011518142.2:c.1793T>G XP_011516444.1:p.Leu598Arg
XM_011518143.2:c.1787T>G XP_011516445.1:p.Leu596Arg
XM_011518145.2:c.1646T>G XP_011516447.1:p.Leu549Arg
XM_017014205.2:c.905T>G XP_016869694.1:p.Leu302Arg
XM_024447380.1:c.905T>G XP_024303148.1:p.Leu302Arg
XM_024447381.1:c.1211T>G XP_024303149.1:p.Leu404Arg
XM_024447382.1:c.905T>G XP_024303150.1:p.Leu302Arg
XR_001746160.2:n.2206T>G
XR_001746162.2:n.2411T>G
XR_001746164.1:n.2128T>G
XR_001746166.2:n.2423T>G
NM_001077365.2:c.2036T>G MANE Select NP_001070833.1:p.Leu679Arg
NM_001077366.2:c.1874T>G NP_001070834.1:p.Leu625Arg
NM_001136113.2:c.2036T>G NP_001129585.1:p.Leu679Arg
NM_001136114.2:c.1685T>G NP_001129586.1:p.Leu562Arg
NM_001353193.2:c.2102T>G NP_001340122.2:p.Leu701Arg
NM_001353194.2:c.1874T>G NP_001340123.1:p.Leu625Arg
NM_001353195.2:c.1685T>G NP_001340124.1:p.Leu562Arg
NM_001353196.2:c.1946T>G NP_001340125.1:p.Leu649Arg
NM_001353197.2:c.1940T>G NP_001340126.2:p.Leu647Arg
NM_001353198.2:c.1940T>G NP_001340127.2:p.Leu647Arg
NM_001353199.2:c.1751T>G NP_001340128.2:p.Leu584Arg
NM_001353200.2:c.1580T>G NP_001340129.1:p.Leu527Arg
NM_001374689.1:c.2024T>G NP_001361618.1:p.Leu675Arg
NM_001374690.1:c.1817T>G NP_001361619.1:p.Leu606Arg
NM_001374691.1:c.1685T>G NP_001361620.1:p.Leu562Arg
NM_001374692.1:c.1685T>G NP_001361621.1:p.Leu562Arg
NM_001374693.1:c.1685T>G NP_001361622.1:p.Leu562Arg
NM_001374695.1:c.1646T>G NP_001361624.1:p.Leu549Arg
NM_007171.4:c.2102T>G NP_009102.4:p.Leu701Arg
NR_148391.2:n.2070T>G
NR_148392.2:n.2288T>G
NR_148393.2:n.2209T>G
NR_148394.2:n.1963T>G
NR_148395.2:n.2361T>G
NR_148396.2:n.1995T>G
NR_148397.2:n.2120T>G
NR_148398.2:n.2075T>G
NR_148399.2:n.2601T>G
NR_148400.2:n.2200T>G