Canonical Allele Identifier: CA375313871

Gene: POMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131521428G>A , CM000671.2:g.131521428G>A	GRCh38
NC_000009.11:g.134396815G>A , CM000671.1:g.134396815G>A	GRCh37
NC_000009.10:g.133386636G>A	NCBI36
NG_008896.1:g.23527G>A
NG_008896.2:g.23527G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001077365.2:c.1781G>A MANE Select	NP_001070833.1:p.Trp594Ter
ENST00000402686.8:c.1781G>A MANE Select	ENSP00000385797.4:p.Trp594Ter
NM_001077365.1:c.1781G>A	NP_001070833.1:p.Trp594Ter
NM_001077366.1:c.1619G>A	NP_001070834.1:p.Trp540Ter
NM_001077366.2:c.1619G>A	NP_001070834.1:p.Trp540Ter
NM_001136113.1:c.1781G>A	NP_001129585.1:p.Trp594Ter
NM_001136113.2:c.1781G>A	NP_001129585.1:p.Trp594Ter
NM_001136114.1:c.1430G>A	NP_001129586.1:p.Trp477Ter
NM_001136114.2:c.1430G>A	NP_001129586.1:p.Trp477Ter
NM_001353193.1:c.1847G>A	NP_001340122.1:p.Trp616Ter
NM_001353193.2:c.1847G>A	NP_001340122.2:p.Trp616Ter
NM_001353194.1:c.1619G>A	NP_001340123.1:p.Trp540Ter
NM_001353194.2:c.1619G>A	NP_001340123.1:p.Trp540Ter
NM_001353195.1:c.1430G>A	NP_001340124.1:p.Trp477Ter
NM_001353195.2:c.1430G>A	NP_001340124.1:p.Trp477Ter
NM_001353196.1:c.1691G>A	NP_001340125.1:p.Trp564Ter
NM_001353196.2:c.1691G>A	NP_001340125.1:p.Trp564Ter
NM_001353197.1:c.1685G>A	NP_001340126.1:p.Trp562Ter
NM_001353197.2:c.1685G>A	NP_001340126.2:p.Trp562Ter
NM_001353198.1:c.1685G>A	NP_001340127.1:p.Trp562Ter
NM_001353198.2:c.1685G>A	NP_001340127.2:p.Trp562Ter
NM_001353199.1:c.1496G>A	NP_001340128.1:p.Trp499Ter
NM_001353199.2:c.1496G>A	NP_001340128.2:p.Trp499Ter
NM_001353200.1:c.1325G>A	NP_001340129.1:p.Trp442Ter
NM_001353200.2:c.1325G>A	NP_001340129.1:p.Trp442Ter
NM_001374689.1:c.1769G>A	NP_001361618.1:p.Trp590Ter
NM_001374690.1:c.1562G>A	NP_001361619.1:p.Trp521Ter
NM_001374691.1:c.1430G>A	NP_001361620.1:p.Trp477Ter
NM_001374692.1:c.1430G>A	NP_001361621.1:p.Trp477Ter
NM_001374693.1:c.1430G>A	NP_001361622.1:p.Trp477Ter
NM_001374695.1:c.1391G>A	NP_001361624.1:p.Trp464Ter
NM_007171.3:c.1847G>A	NP_009102.3:p.Trp616Ter
NM_007171.4:c.1847G>A	NP_009102.4:p.Trp616Ter
NR_148391.1:n.1831G>A
NR_148391.2:n.1815G>A
NR_148392.1:n.2049G>A
NR_148392.2:n.2033G>A
NR_148393.1:n.1970G>A
NR_148393.2:n.1954G>A
NR_148394.1:n.1724G>A
NR_148394.2:n.1708G>A
NR_148395.1:n.2122G>A
NR_148395.2:n.2106G>A
NR_148396.1:n.1756G>A
NR_148396.2:n.1740G>A
NR_148397.1:n.1881G>A
NR_148397.2:n.1865G>A
NR_148398.1:n.1836G>A
NR_148398.2:n.1820G>A
NR_148399.1:n.2362G>A
NR_148399.2:n.2346G>A
NR_148400.1:n.1961G>A
NR_148400.2:n.1945G>A
ENST00000341012.11:c.1619G>A	ENSP00000343034.7:p.Trp540Ter
ENST00000341012.12:c.1619G>A	ENSP00000343034.7:p.Trp540Ter
ENST00000341012.13:c.1619G>A	ENSP00000343034.7:p.Trp540Ter
ENST00000372220.4:c.644G>A	ENSP00000361294.4:p.Trp215Ter
ENST00000372220.5:c.650G>A	ENSP00000361294.5:p.Trp217Ter
ENST00000372228.7:c.1847G>A	ENSP00000361302.3:p.Trp616Ter
ENST00000372228.9:c.1847G>A	ENSP00000361302.3:p.Trp616Ter
ENST00000402686.7:c.1781G>A	ENSP00000385797.3:p.Trp594Ter
ENST00000404875.6:c.1430G>A	ENSP00000384531.2:p.Trp477Ter
ENST00000404875.7:n.2321G>A
ENST00000423007.5:c.1781G>A	ENSP00000404119.1:p.Trp594Ter
ENST00000423007.6:c.1838G>A	ENSP00000404119.2:p.Trp613Ter
ENST00000485278.5:n.2331G>A
ENST00000494883.1:n.324G>A
ENST00000676640.1:c.1781G>A	ENSP00000503281.1:p.Trp594Ter
ENST00000676803.1:c.842G>A	ENSP00000503093.1:p.Trp281Ter
ENST00000676835.1:c.*996G>A	ENSP00000502911.1:n.*996G>A
ENST00000677029.1:c.1325G>A	ENSP00000502936.1:p.Trp442Ter
ENST00000677099.1:c.*1491G>A	ENSP00000504553.1:n.*1491G>A
ENST00000677216.1:c.1430G>A	ENSP00000503772.1:p.Trp477Ter
ENST00000677221.1:n.806G>A
ENST00000677295.1:c.*1158G>A	ENSP00000504346.1:n.*1158G>A
ENST00000677295.2:c.*2125G>A	ENSP00000504346.2:n.*2125G>A
ENST00000677444.1:c.1726G>A
ENST00000677586.1:n.1148G>A
ENST00000677626.1:c.1430G>A	ENSP00000503552.1:p.Trp477Ter
ENST00000677853.1:c.*789G>A	ENSP00000503488.1:n.*789G>A
ENST00000678202.1:n.940G>A
ENST00000678264.1:c.*1158G>A	ENSP00000503157.1:n.*1158G>A
ENST00000678264.2:c.*1964G>A	ENSP00000503157.2:n.*1964G>A
ENST00000678303.1:c.1691G>A	ENSP00000503696.1:p.Trp564Ter
ENST00000678366.1:c.*2030G>A	ENSP00000504353.1:n.*2030G>A
ENST00000678546.1:c.*1726G>A	ENSP00000503062.1:n.*1726G>A
ENST00000678548.1:c.*1853G>A	ENSP00000503934.1:n.*1853G>A
ENST00000678626.1:n.1617G>A
ENST00000678739.1:c.*2102G>A	ENSP00000503806.1:n.*2102G>A
ENST00000678833.1:c.*1533G>A	ENSP00000503893.1:n.*1533G>A
ENST00000679023.1:c.1619G>A	ENSP00000503718.1:p.Trp540Ter
ENST00000679076.1:c.1400G>A
ENST00000679111.1:c.*537G>A	ENSP00000504257.1:n.*537G>A
ENST00000679189.1:c.1430G>A	ENSP00000503356.1:p.Trp477Ter
ENST00000682070.1:n.2246G>A
ENST00000682813.1:n.2185G>A
ENST00000683392.1:n.4528G>A
ENST00000683712.1:n.2186G>A
ENST00000683900.1:n.3681G>A
ENST00000684062.1:n.2447G>A
ENST00000684579.1:n.3627G>A
ENST00000684679.1:n.1008G>A
XM_005272156.1:c.1847G>A	XP_005272213.1:p.Trp616Ter
XM_005272158.1:c.1685G>A	XP_005272215.1:p.Trp562Ter
XM_005272159.1:c.1496G>A	XP_005272216.1:p.Trp499Ter
XM_005272162.1:c.650G>A	XP_005272219.1:p.Trp217Ter
XM_005272162.3:c.650G>A	XP_005272219.1:p.Trp217Ter
XM_006716932.1:c.1496G>A	XP_006716995.1:p.Trp499Ter
XM_006716932.2:c.1496G>A	XP_006716995.1:p.Trp499Ter
XM_011518140.1:c.1700G>A	XP_011516442.1:p.Trp567Ter
XM_011518140.2:c.1700G>A	XP_011516442.1:p.Trp567Ter
XM_011518141.1:c.1634G>A	XP_011516443.1:p.Trp545Ter
XM_011518141.2:c.1634G>A	XP_011516443.1:p.Trp545Ter
XM_011518142.1:c.1538G>A	XP_011516444.1:p.Trp513Ter
XM_011518142.2:c.1538G>A	XP_011516444.1:p.Trp513Ter
XM_011518143.1:c.1532G>A	XP_011516445.1:p.Trp511Ter
XM_011518143.2:c.1532G>A	XP_011516445.1:p.Trp511Ter
XM_011518145.1:c.1391G>A	XP_011516447.1:p.Trp464Ter
XM_011518145.2:c.1391G>A	XP_011516447.1:p.Trp464Ter
XM_011518147.1:c.719G>A	XP_011516449.1:p.Trp240Ter
XM_017014205.2:c.650G>A	XP_016869694.1:p.Trp217Ter
XM_024447380.1:c.650G>A	XP_024303148.1:p.Trp217Ter
XM_024447381.1:c.956G>A	XP_024303149.1:p.Trp319Ter
XM_024447382.1:c.650G>A	XP_024303150.1:p.Trp217Ter
XR_001746160.2:n.1951G>A
XR_001746162.2:n.2156G>A
XR_001746164.1:n.1873G>A
XR_001746166.2:n.2168G>A
XR_929703.1:n.2023G>A