Canonical Allele Identifier: CA375309085

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134388679T>G (hg19) ; chr9:g.131513292T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131513292T>G , CM000671.2:g.131513292T>G	GRCh38
NC_000009.11:g.134388679T>G , CM000671.1:g.134388679T>G	GRCh37
NC_000009.10:g.133378500T>G	NCBI36
NG_008896.1:g.15391T>G
NG_008896.2:g.15391T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.974T>G	ENSP00000343034.7:p.Val325Gly
ENST00000404875.7:n.1676T>G
ENST00000423007.6:c.1193T>G	ENSP00000404119.2:p.Val398Gly
ENST00000677295.2:c.*1480T>G	ENSP00000504346.2:n.*1480T>G
ENST00000678264.2:c.*1319T>G	ENSP00000503157.2:n.*1319T>G
ENST00000682070.1:n.1601T>G
ENST00000682813.1:n.1401T>G
ENST00000683392.1:n.3883T>G
ENST00000683712.1:n.1541T>G
ENST00000683900.1:n.3036T>G
ENST00000684062.1:n.1802T>G
ENST00000684579.1:n.2982T>G
ENST00000341012.12:c.974T>G	ENSP00000343034.7:p.Val325Gly
ENST00000372220.5:c.5T>G	ENSP00000361294.5:p.Val2Gly
ENST00000372228.9:c.1202T>G	ENSP00000361302.3:p.Val401Gly
ENST00000402686.8:c.1136T>G MANE Select	ENSP00000385797.4:p.Val379Gly
ENST00000676640.1:c.1136T>G	ENSP00000503281.1:p.Val379Gly
ENST00000676803.1:c.311T>G	ENSP00000503093.1:p.Val104Gly
ENST00000676835.1:c.*351T>G	ENSP00000502911.1:n.*351T>G
ENST00000677029.1:c.680T>G	ENSP00000502936.1:p.Val227Gly
ENST00000677099.1:c.*846T>G	ENSP00000504553.1:n.*846T>G
ENST00000677216.1:c.785T>G	ENSP00000503772.1:p.Val262Gly
ENST00000677293.1:c.311T>G	ENSP00000504278.1:p.Val104Gly
ENST00000677295.1:c.*513T>G	ENSP00000504346.1:n.*513T>G
ENST00000677444.1:c.942T>G
ENST00000677586.1:n.617T>G
ENST00000677626.1:c.824+1825T>G	ENSP00000503552.1:n.824+1825T>G
ENST00000677677.1:n.1096T>G
ENST00000677853.1:c.*144T>G	ENSP00000503488.1:n.*144T>G
ENST00000677944.1:c.398T>G
ENST00000678264.1:c.*513T>G	ENSP00000503157.1:n.*513T>G
ENST00000678303.1:c.1046T>G	ENSP00000503696.1:p.Val349Gly
ENST00000678366.1:c.*1385T>G	ENSP00000504353.1:n.*1385T>G
ENST00000678546.1:c.*1081T>G	ENSP00000503062.1:n.*1081T>G
ENST00000678548.1:c.*1208T>G	ENSP00000503934.1:n.*1208T>G
ENST00000678626.1:n.833T>G
ENST00000678733.1:c.256+1156T>G
ENST00000678739.1:c.*1462T>G	ENSP00000503806.1:n.*1462T>G
ENST00000678795.1:n.223T>G
ENST00000678833.1:c.*583T>G	ENSP00000503893.1:n.*583T>G
ENST00000678942.1:c.316T>G	ENSP00000504690.1:n.316T>G
ENST00000679023.1:c.974T>G	ENSP00000503718.1:p.Val325Gly
ENST00000679073.1:c.514T>G	ENSP00000504356.1:n.514T>G
ENST00000679076.1:c.755T>G
ENST00000679111.1:c.1136T>G	ENSP00000504257.1:p.Val379Gly
ENST00000679189.1:c.785T>G	ENSP00000503356.1:p.Val262Gly
ENST00000341012.11:c.974T>G	ENSP00000343034.7:p.Val325Gly
ENST00000372228.7:c.1202T>G	ENSP00000361302.3:p.Val401Gly
ENST00000402686.7:c.1136T>G	ENSP00000385797.3:p.Val379Gly
ENST00000404875.6:c.785T>G	ENSP00000384531.2:p.Val262Gly
ENST00000423007.5:c.1136T>G	ENSP00000404119.1:p.Val379Gly
ENST00000441334.5:c.851T>G	ENSP00000395060.1:p.Val284Gly
ENST00000462375.5:n.962T>G
ENST00000485278.5:n.1691T>G
NM_001077365.1:c.1136T>G	NP_001070833.1:p.Val379Gly
NM_001077366.1:c.974T>G	NP_001070834.1:p.Val325Gly
NM_001136113.1:c.1136T>G	NP_001129585.1:p.Val379Gly
NM_001136114.1:c.785T>G	NP_001129586.1:p.Val262Gly
NM_007171.3:c.1202T>G	NP_009102.3:p.Val401Gly
XM_005272156.1:c.1202T>G	XP_005272213.1:p.Val401Gly
XM_005272158.1:c.1040T>G	XP_005272215.1:p.Val347Gly
XM_005272159.1:c.851T>G	XP_005272216.1:p.Val284Gly
XM_005272162.1:c.5T>G	XP_005272219.1:p.Val2Gly
XM_006716932.1:c.851T>G	XP_006716995.1:p.Val284Gly
XM_011518140.1:c.1055T>G	XP_011516442.1:p.Val352Gly
XM_011518141.1:c.989T>G	XP_011516443.1:p.Val330Gly
XM_011518142.1:c.893T>G	XP_011516444.1:p.Val298Gly
XM_011518143.1:c.887T>G	XP_011516445.1:p.Val296Gly
XM_011518144.1:c.1202T>G	XP_011516446.1:p.Val401Gly
XM_011518145.1:c.746T>G	XP_011516447.1:p.Val249Gly
XM_011518146.1:c.887T>G	XP_011516448.1:p.Val296Gly
XR_929703.1:n.1378T>G
NM_001353193.1:c.1202T>G	NP_001340122.1:p.Val401Gly
NM_001353194.1:c.974T>G	NP_001340123.1:p.Val325Gly
NM_001353195.1:c.785T>G	NP_001340124.1:p.Val262Gly
NM_001353196.1:c.1046T>G	NP_001340125.1:p.Val349Gly
NM_001353197.1:c.1040T>G	NP_001340126.1:p.Val347Gly
NM_001353198.1:c.1040T>G	NP_001340127.1:p.Val347Gly
NM_001353199.1:c.851T>G	NP_001340128.1:p.Val284Gly
NM_001353200.1:c.680T>G	NP_001340129.1:p.Val227Gly
NR_148391.1:n.1186T>G
NR_148392.1:n.1404T>G
NR_148393.1:n.1186T>G
NR_148394.1:n.1079T>G
NR_148395.1:n.1338T>G
NR_148396.1:n.972T>G
NR_148397.1:n.1236T>G
NR_148398.1:n.1191T>G
NR_148399.1:n.1578T>G
NR_148400.1:n.1177T>G
XM_005272162.3:c.5T>G	XP_005272219.1:p.Val2Gly
XM_006716932.2:c.851T>G	XP_006716995.1:p.Val284Gly
XM_011518140.2:c.1055T>G	XP_011516442.1:p.Val352Gly
XM_011518141.2:c.989T>G	XP_011516443.1:p.Val330Gly
XM_011518142.2:c.893T>G	XP_011516444.1:p.Val298Gly
XM_011518143.2:c.887T>G	XP_011516445.1:p.Val296Gly
XM_011518145.2:c.746T>G	XP_011516447.1:p.Val249Gly
XM_017014205.2:c.5T>G	XP_016869694.1:p.Val2Gly
XM_024447380.1:c.5T>G	XP_024303148.1:p.Val2Gly
XM_024447381.1:c.311T>G	XP_024303149.1:p.Val104Gly
XM_024447382.1:c.5T>G	XP_024303150.1:p.Val2Gly
XR_001746160.2:n.1306T>G
XR_001746162.2:n.1372T>G
XR_001746164.1:n.1089T>G
XR_001746166.2:n.1523T>G
NM_001077365.2:c.1136T>G MANE Select	NP_001070833.1:p.Val379Gly
NM_001077366.2:c.974T>G	NP_001070834.1:p.Val325Gly
NM_001136113.2:c.1136T>G	NP_001129585.1:p.Val379Gly
NM_001136114.2:c.785T>G	NP_001129586.1:p.Val262Gly
NM_001353193.2:c.1202T>G	NP_001340122.2:p.Val401Gly
NM_001353194.2:c.974T>G	NP_001340123.1:p.Val325Gly
NM_001353195.2:c.785T>G	NP_001340124.1:p.Val262Gly
NM_001353196.2:c.1046T>G	NP_001340125.1:p.Val349Gly
NM_001353197.2:c.1040T>G	NP_001340126.2:p.Val347Gly
NM_001353198.2:c.1040T>G	NP_001340127.2:p.Val347Gly
NM_001353199.2:c.851T>G	NP_001340128.2:p.Val284Gly
NM_001353200.2:c.680T>G	NP_001340129.1:p.Val227Gly
NM_001374689.1:c.1124T>G	NP_001361618.1:p.Val375Gly
NM_001374690.1:c.1136T>G	NP_001361619.1:p.Val379Gly
NM_001374691.1:c.785T>G	NP_001361620.1:p.Val262Gly
NM_001374692.1:c.785T>G	NP_001361621.1:p.Val262Gly
NM_001374693.1:c.824+1825T>G	NP_001361622.1:n.824+1825T>G
NM_001374695.1:c.746T>G	NP_001361624.1:p.Val249Gly
NM_007171.4:c.1202T>G	NP_009102.4:p.Val401Gly
NR_148391.2:n.1170T>G
NR_148392.2:n.1388T>G
NR_148393.2:n.1170T>G
NR_148394.2:n.1063T>G
NR_148395.2:n.1322T>G
NR_148396.2:n.956T>G
NR_148397.2:n.1220T>G
NR_148398.2:n.1175T>G
NR_148399.2:n.1562T>G
NR_148400.2:n.1161T>G