Canonical Allele Identifier: CA375315022

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134398354T>G (hg19) ; chr9:g.131522967T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522967T>G , CM000671.2:g.131522967T>G	GRCh38
NC_000009.11:g.134398354T>G , CM000671.1:g.134398354T>G	GRCh37
NC_000009.10:g.133388175T>G	NCBI36
NG_008896.1:g.25066T>G
NG_008896.2:g.25066T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.1877T>G	ENSP00000343034.7:p.Val626Gly
ENST00000404875.7:n.2579T>G
ENST00000423007.6:c.2096T>G	ENSP00000404119.2:p.Val699Gly
ENST00000677295.2:c.*2383T>G	ENSP00000504346.2:n.*2383T>G
ENST00000678264.2:c.*2222T>G	ENSP00000503157.2:n.*2222T>G
ENST00000682070.1:n.2349T>G
ENST00000682639.1:c.36T>G
ENST00000682813.1:n.2436T>G
ENST00000683231.1:c.36T>G
ENST00000683392.1:n.4631T>G
ENST00000683712.1:n.2444T>G
ENST00000683900.1:n.3939T>G
ENST00000684062.1:n.2705T>G
ENST00000684399.1:c.36T>G
ENST00000684579.1:n.3885T>G
ENST00000341012.12:c.1877T>G	ENSP00000343034.7:p.Val626Gly
ENST00000372220.5:c.908T>G	ENSP00000361294.5:p.Val303Gly
ENST00000372228.9:c.2105T>G	ENSP00000361302.3:p.Val702Gly
ENST00000402686.8:c.2039T>G MANE Select	ENSP00000385797.4:p.Val680Gly
ENST00000676640.1:c.2039T>G	ENSP00000503281.1:p.Val680Gly
ENST00000676803.1:c.1100T>G	ENSP00000503093.1:p.Val367Gly
ENST00000676835.1:c.*1254T>G	ENSP00000502911.1:n.*1254T>G
ENST00000677029.1:c.1583T>G	ENSP00000502936.1:p.Val528Gly
ENST00000677099.1:c.*1749T>G	ENSP00000504553.1:n.*1749T>G
ENST00000677216.1:c.1688T>G	ENSP00000503772.1:p.Val563Gly
ENST00000677221.1:n.1064T>G
ENST00000677295.1:c.*1261T>G	ENSP00000504346.1:n.*1261T>G
ENST00000677444.1:c.1984T>G
ENST00000677586.1:n.1406T>G
ENST00000677626.1:c.1688T>G	ENSP00000503552.1:p.Val563Gly
ENST00000677853.1:c.*1047T>G	ENSP00000503488.1:n.*1047T>G
ENST00000678264.1:c.*1416T>G	ENSP00000503157.1:n.*1416T>G
ENST00000678303.1:c.1949T>G	ENSP00000503696.1:p.Val650Gly
ENST00000678366.1:c.*2288T>G	ENSP00000504353.1:n.*2288T>G
ENST00000678546.1:c.*1984T>G	ENSP00000503062.1:n.*1984T>G
ENST00000678548.1:c.*2178T>G	ENSP00000503934.1:n.*2178T>G
ENST00000678626.1:n.1875T>G
ENST00000678739.1:c.*2205T>G	ENSP00000503806.1:n.*2205T>G
ENST00000678833.1:c.*1791T>G	ENSP00000503893.1:n.*1791T>G
ENST00000679023.1:c.1877T>G	ENSP00000503718.1:p.Val626Gly
ENST00000679076.1:c.1658T>G
ENST00000679111.1:c.*795T>G	ENSP00000504257.1:n.*795T>G
ENST00000679189.1:c.1688T>G	ENSP00000503356.1:p.Val563Gly
ENST00000341012.11:c.1877T>G	ENSP00000343034.7:p.Val626Gly
ENST00000372220.4:c.902T>G	ENSP00000361294.4:p.Val301Gly
ENST00000372228.7:c.2105T>G	ENSP00000361302.3:p.Val702Gly
ENST00000402686.7:c.2039T>G	ENSP00000385797.3:p.Val680Gly
ENST00000404875.6:c.1688T>G	ENSP00000384531.2:p.Val563Gly
ENST00000423007.5:c.2039T>G	ENSP00000404119.1:p.Val680Gly
ENST00000485278.5:n.2589T>G
NM_001077365.1:c.2039T>G	NP_001070833.1:p.Val680Gly
NM_001077366.1:c.1877T>G	NP_001070834.1:p.Val626Gly
NM_001136113.1:c.2039T>G	NP_001129585.1:p.Val680Gly
NM_001136114.1:c.1688T>G	NP_001129586.1:p.Val563Gly
NM_007171.3:c.2105T>G	NP_009102.3:p.Val702Gly
XM_005272156.1:c.2105T>G	XP_005272213.1:p.Val702Gly
XM_005272158.1:c.1943T>G	XP_005272215.1:p.Val648Gly
XM_005272159.1:c.1754T>G	XP_005272216.1:p.Val585Gly
XM_005272162.1:c.908T>G	XP_005272219.1:p.Val303Gly
XM_006716932.1:c.1754T>G	XP_006716995.1:p.Val585Gly
XM_011518140.1:c.1958T>G	XP_011516442.1:p.Val653Gly
XM_011518141.1:c.1892T>G	XP_011516443.1:p.Val631Gly
XM_011518142.1:c.1796T>G	XP_011516444.1:p.Val599Gly
XM_011518143.1:c.1790T>G	XP_011516445.1:p.Val597Gly
XM_011518145.1:c.1649T>G	XP_011516447.1:p.Val550Gly
XM_011518147.1:c.977T>G	XP_011516449.1:p.Val326Gly
XR_929703.1:n.2281T>G
NM_001353193.1:c.2105T>G	NP_001340122.1:p.Val702Gly
NM_001353194.1:c.1877T>G	NP_001340123.1:p.Val626Gly
NM_001353195.1:c.1688T>G	NP_001340124.1:p.Val563Gly
NM_001353196.1:c.1949T>G	NP_001340125.1:p.Val650Gly
NM_001353197.1:c.1943T>G	NP_001340126.1:p.Val648Gly
NM_001353198.1:c.1943T>G	NP_001340127.1:p.Val648Gly
NM_001353199.1:c.1754T>G	NP_001340128.1:p.Val585Gly
NM_001353200.1:c.1583T>G	NP_001340129.1:p.Val528Gly
NR_148391.1:n.2089T>G
NR_148392.1:n.2307T>G
NR_148393.1:n.2228T>G
NR_148394.1:n.1982T>G
NR_148395.1:n.2380T>G
NR_148396.1:n.2014T>G
NR_148397.1:n.2139T>G
NR_148398.1:n.2094T>G
NR_148399.1:n.2620T>G
NR_148400.1:n.2219T>G
XM_005272162.3:c.908T>G	XP_005272219.1:p.Val303Gly
XM_006716932.2:c.1754T>G	XP_006716995.1:p.Val585Gly
XM_011518140.2:c.1958T>G	XP_011516442.1:p.Val653Gly
XM_011518141.2:c.1892T>G	XP_011516443.1:p.Val631Gly
XM_011518142.2:c.1796T>G	XP_011516444.1:p.Val599Gly
XM_011518143.2:c.1790T>G	XP_011516445.1:p.Val597Gly
XM_011518145.2:c.1649T>G	XP_011516447.1:p.Val550Gly
XM_017014205.2:c.908T>G	XP_016869694.1:p.Val303Gly
XM_024447380.1:c.908T>G	XP_024303148.1:p.Val303Gly
XM_024447381.1:c.1214T>G	XP_024303149.1:p.Val405Gly
XM_024447382.1:c.908T>G	XP_024303150.1:p.Val303Gly
XR_001746160.2:n.2209T>G
XR_001746162.2:n.2414T>G
XR_001746164.1:n.2131T>G
XR_001746166.2:n.2426T>G
NM_001077365.2:c.2039T>G MANE Select	NP_001070833.1:p.Val680Gly
NM_001077366.2:c.1877T>G	NP_001070834.1:p.Val626Gly
NM_001136113.2:c.2039T>G	NP_001129585.1:p.Val680Gly
NM_001136114.2:c.1688T>G	NP_001129586.1:p.Val563Gly
NM_001353193.2:c.2105T>G	NP_001340122.2:p.Val702Gly
NM_001353194.2:c.1877T>G	NP_001340123.1:p.Val626Gly
NM_001353195.2:c.1688T>G	NP_001340124.1:p.Val563Gly
NM_001353196.2:c.1949T>G	NP_001340125.1:p.Val650Gly
NM_001353197.2:c.1943T>G	NP_001340126.2:p.Val648Gly
NM_001353198.2:c.1943T>G	NP_001340127.2:p.Val648Gly
NM_001353199.2:c.1754T>G	NP_001340128.2:p.Val585Gly
NM_001353200.2:c.1583T>G	NP_001340129.1:p.Val528Gly
NM_001374689.1:c.2027T>G	NP_001361618.1:p.Val676Gly
NM_001374690.1:c.1820T>G	NP_001361619.1:p.Val607Gly
NM_001374691.1:c.1688T>G	NP_001361620.1:p.Val563Gly
NM_001374692.1:c.1688T>G	NP_001361621.1:p.Val563Gly
NM_001374693.1:c.1688T>G	NP_001361622.1:p.Val563Gly
NM_001374695.1:c.1649T>G	NP_001361624.1:p.Val550Gly
NM_007171.4:c.2105T>G	NP_009102.4:p.Val702Gly
NR_148391.2:n.2073T>G
NR_148392.2:n.2291T>G
NR_148393.2:n.2212T>G
NR_148394.2:n.1966T>G
NR_148395.2:n.2364T>G
NR_148396.2:n.1998T>G
NR_148397.2:n.2123T>G
NR_148398.2:n.2078T>G
NR_148399.2:n.2604T>G
NR_148400.2:n.2203T>G