Canonical Allele Identifier: CA375314203

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134397461G>A (hg19) ; chr9:g.131522074G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522074G>A , CM000671.2:g.131522074G>A	GRCh38
NC_000009.11:g.134397461G>A , CM000671.1:g.134397461G>A	GRCh37
NC_000009.10:g.133387282G>A	NCBI36
NG_008896.1:g.24173G>A
NG_008896.2:g.24173G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1691G>A	ENSP00000343034.7:p.Gly564Glu
ENST00000404875.7:n.2393G>A
ENST00000423007.6:c.1910G>A	ENSP00000404119.2:p.Gly637Glu
ENST00000677295.2:c.*2197G>A	ENSP00000504346.2:n.*2197G>A
ENST00000678264.2:c.*2036G>A	ENSP00000503157.2:n.*2036G>A
ENST00000682070.1:n.2291-128G>A
ENST00000682813.1:n.2257G>A
ENST00000683392.1:n.4573-128G>A
ENST00000683712.1:n.2258G>A
ENST00000683900.1:n.3753G>A
ENST00000684062.1:n.2519G>A
ENST00000684579.1:n.3699G>A
ENST00000684679.1:n.1080G>A
ENST00000341012.12:c.1691G>A	ENSP00000343034.7:p.Gly564Glu
ENST00000372220.5:c.722G>A	ENSP00000361294.5:p.Gly241Glu
ENST00000372228.9:c.1919G>A	ENSP00000361302.3:p.Gly640Glu
ENST00000402686.8:c.1853G>A MANE Select	ENSP00000385797.4:p.Gly618Glu
ENST00000676640.1:c.1853G>A	ENSP00000503281.1:p.Gly618Glu
ENST00000676803.1:c.914G>A	ENSP00000503093.1:p.Gly305Glu
ENST00000676835.1:c.*1068G>A	ENSP00000502911.1:n.*1068G>A
ENST00000677029.1:c.1397G>A	ENSP00000502936.1:p.Gly466Glu
ENST00000677099.1:c.*1563G>A	ENSP00000504553.1:n.*1563G>A
ENST00000677216.1:c.1502G>A	ENSP00000503772.1:p.Gly501Glu
ENST00000677221.1:n.878G>A
ENST00000677295.1:c.*1203-128G>A	ENSP00000504346.1:n.*1203-128G>A
ENST00000677444.1:c.1798G>A
ENST00000677586.1:n.1220G>A
ENST00000677626.1:c.1502G>A	ENSP00000503552.1:p.Gly501Glu
ENST00000677853.1:c.*861G>A	ENSP00000503488.1:n.*861G>A
ENST00000678202.1:n.1012G>A
ENST00000678264.1:c.*1230G>A	ENSP00000503157.1:n.*1230G>A
ENST00000678303.1:c.1763G>A	ENSP00000503696.1:p.Gly588Glu
ENST00000678366.1:c.*2102G>A	ENSP00000504353.1:n.*2102G>A
ENST00000678546.1:c.*1798G>A	ENSP00000503062.1:n.*1798G>A
ENST00000678548.1:c.*1992G>A	ENSP00000503934.1:n.*1992G>A
ENST00000678626.1:n.1689G>A
ENST00000678739.1:c.*2147-128G>A	ENSP00000503806.1:n.*2147-128G>A
ENST00000678833.1:c.*1605G>A	ENSP00000503893.1:n.*1605G>A
ENST00000679023.1:c.1691G>A	ENSP00000503718.1:p.Gly564Glu
ENST00000679076.1:c.1472G>A
ENST00000679111.1:c.*609G>A	ENSP00000504257.1:n.*609G>A
ENST00000679189.1:c.1502G>A	ENSP00000503356.1:p.Gly501Glu
ENST00000341012.11:c.1691G>A	ENSP00000343034.7:p.Gly564Glu
ENST00000372220.4:c.716G>A	ENSP00000361294.4:p.Gly239Glu
ENST00000372228.7:c.1919G>A	ENSP00000361302.3:p.Gly640Glu
ENST00000402686.7:c.1853G>A	ENSP00000385797.3:p.Gly618Glu
ENST00000404875.6:c.1502G>A	ENSP00000384531.2:p.Gly501Glu
ENST00000423007.5:c.1853G>A	ENSP00000404119.1:p.Gly618Glu
ENST00000485278.5:n.2403G>A
ENST00000494883.1:n.396G>A
NM_001077365.1:c.1853G>A	NP_001070833.1:p.Gly618Glu
NM_001077366.1:c.1691G>A	NP_001070834.1:p.Gly564Glu
NM_001136113.1:c.1853G>A	NP_001129585.1:p.Gly618Glu
NM_001136114.1:c.1502G>A	NP_001129586.1:p.Gly501Glu
NM_007171.3:c.1919G>A	NP_009102.3:p.Gly640Glu
XM_005272156.1:c.1919G>A	XP_005272213.1:p.Gly640Glu
XM_005272158.1:c.1757G>A	XP_005272215.1:p.Gly586Glu
XM_005272159.1:c.1568G>A	XP_005272216.1:p.Gly523Glu
XM_005272162.1:c.722G>A	XP_005272219.1:p.Gly241Glu
XM_006716932.1:c.1568G>A	XP_006716995.1:p.Gly523Glu
XM_011518140.1:c.1772G>A	XP_011516442.1:p.Gly591Glu
XM_011518141.1:c.1706G>A	XP_011516443.1:p.Gly569Glu
XM_011518142.1:c.1610G>A	XP_011516444.1:p.Gly537Glu
XM_011518143.1:c.1604G>A	XP_011516445.1:p.Gly535Glu
XM_011518145.1:c.1463G>A	XP_011516447.1:p.Gly488Glu
XM_011518147.1:c.791G>A	XP_011516449.1:p.Gly264Glu
XR_929703.1:n.2095G>A
NM_001353193.1:c.1919G>A	NP_001340122.1:p.Gly640Glu
NM_001353194.1:c.1691G>A	NP_001340123.1:p.Gly564Glu
NM_001353195.1:c.1502G>A	NP_001340124.1:p.Gly501Glu
NM_001353196.1:c.1763G>A	NP_001340125.1:p.Gly588Glu
NM_001353197.1:c.1757G>A	NP_001340126.1:p.Gly586Glu
NM_001353198.1:c.1757G>A	NP_001340127.1:p.Gly586Glu
NM_001353199.1:c.1568G>A	NP_001340128.1:p.Gly523Glu
NM_001353200.1:c.1397G>A	NP_001340129.1:p.Gly466Glu
NR_148391.1:n.1903G>A
NR_148392.1:n.2121G>A
NR_148393.1:n.2042G>A
NR_148394.1:n.1796G>A
NR_148395.1:n.2194G>A
NR_148396.1:n.1828G>A
NR_148397.1:n.1953G>A
NR_148398.1:n.1908G>A
NR_148399.1:n.2434G>A
NR_148400.1:n.2033G>A
XM_005272162.3:c.722G>A	XP_005272219.1:p.Gly241Glu
XM_006716932.2:c.1568G>A	XP_006716995.1:p.Gly523Glu
XM_011518140.2:c.1772G>A	XP_011516442.1:p.Gly591Glu
XM_011518141.2:c.1706G>A	XP_011516443.1:p.Gly569Glu
XM_011518142.2:c.1610G>A	XP_011516444.1:p.Gly537Glu
XM_011518143.2:c.1604G>A	XP_011516445.1:p.Gly535Glu
XM_011518145.2:c.1463G>A	XP_011516447.1:p.Gly488Glu
XM_017014205.2:c.722G>A	XP_016869694.1:p.Gly241Glu
XM_024447380.1:c.722G>A	XP_024303148.1:p.Gly241Glu
XM_024447381.1:c.1028G>A	XP_024303149.1:p.Gly343Glu
XM_024447382.1:c.722G>A	XP_024303150.1:p.Gly241Glu
XR_001746160.2:n.2023G>A
XR_001746162.2:n.2228G>A
XR_001746164.1:n.1945G>A
XR_001746166.2:n.2240G>A
NM_001077365.2:c.1853G>A MANE Select	NP_001070833.1:p.Gly618Glu
NM_001077366.2:c.1691G>A	NP_001070834.1:p.Gly564Glu
NM_001136113.2:c.1853G>A	NP_001129585.1:p.Gly618Glu
NM_001136114.2:c.1502G>A	NP_001129586.1:p.Gly501Glu
NM_001353193.2:c.1919G>A	NP_001340122.2:p.Gly640Glu
NM_001353194.2:c.1691G>A	NP_001340123.1:p.Gly564Glu
NM_001353195.2:c.1502G>A	NP_001340124.1:p.Gly501Glu
NM_001353196.2:c.1763G>A	NP_001340125.1:p.Gly588Glu
NM_001353197.2:c.1757G>A	NP_001340126.2:p.Gly586Glu
NM_001353198.2:c.1757G>A	NP_001340127.2:p.Gly586Glu
NM_001353199.2:c.1568G>A	NP_001340128.2:p.Gly523Glu
NM_001353200.2:c.1397G>A	NP_001340129.1:p.Gly466Glu
NM_001374689.1:c.1841G>A	NP_001361618.1:p.Gly614Glu
NM_001374690.1:c.1634G>A	NP_001361619.1:p.Gly545Glu
NM_001374691.1:c.1502G>A	NP_001361620.1:p.Gly501Glu
NM_001374692.1:c.1502G>A	NP_001361621.1:p.Gly501Glu
NM_001374693.1:c.1502G>A	NP_001361622.1:p.Gly501Glu
NM_001374695.1:c.1463G>A	NP_001361624.1:p.Gly488Glu
NM_007171.4:c.1919G>A	NP_009102.4:p.Gly640Glu
NR_148391.2:n.1887G>A
NR_148392.2:n.2105G>A
NR_148393.2:n.2026G>A
NR_148394.2:n.1780G>A
NR_148395.2:n.2178G>A
NR_148396.2:n.1812G>A
NR_148397.2:n.1937G>A
NR_148398.2:n.1892G>A
NR_148399.2:n.2418G>A
NR_148400.2:n.2017G>A