Canonical Allele Identifier: CA375308430

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134386767C>G (hg19) ; chr9:g.131511380C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131511380C>G , CM000671.2:g.131511380C>G	GRCh38
NC_000009.11:g.134386767C>G , CM000671.1:g.134386767C>G	GRCh37
NC_000009.10:g.133376588C>G	NCBI36
NG_008896.1:g.13479C>G
NG_008896.2:g.13479C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.737C>G	ENSP00000343034.7:p.Ala246Gly
ENST00000404875.7:n.1271C>G
ENST00000423007.6:c.956C>G	ENSP00000404119.2:p.Ala319Gly
ENST00000677295.2:c.*1238C>G	ENSP00000504346.2:n.*1238C>G
ENST00000678264.2:c.*1082C>G	ENSP00000503157.2:n.*1082C>G
ENST00000678942.2:c.*452C>G	ENSP00000504690.2:n.*452C>G
ENST00000682070.1:n.1359C>G
ENST00000682813.1:n.1164C>G
ENST00000683134.1:c.266C>G
ENST00000683392.1:n.3646C>G
ENST00000683712.1:n.1299C>G
ENST00000683900.1:n.2226C>G
ENST00000684062.1:n.1565C>G
ENST00000684579.1:n.2740C>G
ENST00000341012.12:c.737C>G	ENSP00000343034.7:p.Ala246Gly
ENST00000372220.5:c.-145-661C>G	ENSP00000361294.5:n.-145-661C>G
ENST00000372228.9:c.965C>G	ENSP00000361302.3:p.Ala322Gly
ENST00000402686.8:c.899C>G MANE Select	ENSP00000385797.4:p.Ala300Gly
ENST00000415075.6:c.*352C>G	ENSP00000405149.2:n.*352C>G
ENST00000676640.1:c.899C>G	ENSP00000503281.1:p.Ala300Gly
ENST00000676803.1:c.74C>G	ENSP00000503093.1:p.Ala25Gly
ENST00000676835.1:c.*109C>G	ENSP00000502911.1:n.*109C>G
ENST00000677029.1:c.443C>G	ENSP00000502936.1:p.Ala148Gly
ENST00000677099.1:c.*609C>G	ENSP00000504553.1:n.*609C>G
ENST00000677216.1:c.548C>G	ENSP00000503772.1:p.Ala183Gly
ENST00000677293.1:c.74C>G	ENSP00000504278.1:p.Ala25Gly
ENST00000677295.1:c.*271C>G	ENSP00000504346.1:n.*271C>G
ENST00000677444.1:c.705C>G
ENST00000677586.1:n.380C>G
ENST00000677626.1:c.737C>G	ENSP00000503552.1:p.Ala246Gly
ENST00000677677.1:n.859C>G
ENST00000677853.1:c.480C>G	ENSP00000503488.1:p.Gly160=
ENST00000677944.1:c.161C>G
ENST00000678264.1:c.*271C>G	ENSP00000503157.1:n.*271C>G
ENST00000678303.1:c.809C>G	ENSP00000503696.1:p.Ala270Gly
ENST00000678366.1:c.*1148C>G	ENSP00000504353.1:n.*1148C>G
ENST00000678546.1:c.*271C>G	ENSP00000503062.1:n.*271C>G
ENST00000678548.1:c.*966C>G	ENSP00000503934.1:n.*966C>G
ENST00000678626.1:n.591C>G
ENST00000678707.1:n.537C>G
ENST00000678733.1:c.73C>G
ENST00000678739.1:c.*1220C>G	ENSP00000503806.1:n.*1220C>G
ENST00000678833.1:c.*346C>G	ENSP00000503893.1:n.*346C>G
ENST00000678942.1:c.74C>G	ENSP00000504690.1:p.Ala25Gly
ENST00000679023.1:c.737C>G	ENSP00000503718.1:p.Ala246Gly
ENST00000679073.1:c.277C>G	ENSP00000504356.1:n.277C>G
ENST00000679076.1:c.513C>G
ENST00000679111.1:c.899C>G	ENSP00000504257.1:p.Ala300Gly
ENST00000679189.1:c.548C>G	ENSP00000503356.1:p.Ala183Gly
ENST00000341012.11:c.737C>G	ENSP00000343034.7:p.Ala246Gly
ENST00000372228.7:c.965C>G	ENSP00000361302.3:p.Ala322Gly
ENST00000402686.7:c.899C>G	ENSP00000385797.3:p.Ala300Gly
ENST00000404875.6:c.548C>G	ENSP00000384531.2:p.Ala183Gly
ENST00000415075.5:c.291C>G	ENSP00000405149.1:p.Gly97=
ENST00000423007.5:c.899C>G	ENSP00000404119.1:p.Ala300Gly
ENST00000441334.5:c.614C>G	ENSP00000395060.1:p.Ala205Gly
ENST00000462375.5:n.720C>G
ENST00000485278.5:n.881C>G
NM_001077365.1:c.899C>G	NP_001070833.1:p.Ala300Gly
NM_001077366.1:c.737C>G	NP_001070834.1:p.Ala246Gly
NM_001136113.1:c.899C>G	NP_001129585.1:p.Ala300Gly
NM_001136114.1:c.548C>G	NP_001129586.1:p.Ala183Gly
NM_007171.3:c.965C>G	NP_009102.3:p.Ala322Gly
XM_005272156.1:c.965C>G	XP_005272213.1:p.Ala322Gly
XM_005272158.1:c.803C>G	XP_005272215.1:p.Ala268Gly
XM_005272159.1:c.614C>G	XP_005272216.1:p.Ala205Gly
XM_005272162.1:c.-238C>G	XP_005272219.1:n.-238C>G
XM_006716932.1:c.614C>G	XP_006716995.1:p.Ala205Gly
XM_011518140.1:c.818C>G	XP_011516442.1:p.Ala273Gly
XM_011518141.1:c.752C>G	XP_011516443.1:p.Ala251Gly
XM_011518142.1:c.656C>G	XP_011516444.1:p.Ala219Gly
XM_011518143.1:c.645C>G	XP_011516445.1:p.Gly215=
XM_011518144.1:c.965C>G	XP_011516446.1:p.Ala322Gly
XM_011518145.1:c.509C>G	XP_011516447.1:p.Ala170Gly
XM_011518146.1:c.645C>G	XP_011516448.1:p.Gly215=
XR_929703.1:n.1141C>G
NM_001353193.1:c.965C>G	NP_001340122.1:p.Ala322Gly
NM_001353194.1:c.737C>G	NP_001340123.1:p.Ala246Gly
NM_001353195.1:c.548C>G	NP_001340124.1:p.Ala183Gly
NM_001353196.1:c.809C>G	NP_001340125.1:p.Ala270Gly
NM_001353197.1:c.803C>G	NP_001340126.1:p.Ala268Gly
NM_001353198.1:c.803C>G	NP_001340127.1:p.Ala268Gly
NM_001353199.1:c.614C>G	NP_001340128.1:p.Ala205Gly
NM_001353200.1:c.443C>G	NP_001340129.1:p.Ala148Gly
NR_148391.1:n.949C>G
NR_148392.1:n.1167C>G
NR_148393.1:n.949C>G
NR_148394.1:n.837C>G
NR_148395.1:n.1101C>G
NR_148396.1:n.730C>G
NR_148397.1:n.994C>G
NR_148398.1:n.949C>G
NR_148399.1:n.1341C>G
NR_148400.1:n.935C>G
XM_005272162.3:c.-238C>G	XP_005272219.1:n.-238C>G
XM_006716932.2:c.614C>G	XP_006716995.1:p.Ala205Gly
XM_011518140.2:c.818C>G	XP_011516442.1:p.Ala273Gly
XM_011518141.2:c.752C>G	XP_011516443.1:p.Ala251Gly
XM_011518142.2:c.656C>G	XP_011516444.1:p.Ala219Gly
XM_011518143.2:c.645C>G	XP_011516445.1:p.Gly215=
XM_011518145.2:c.509C>G	XP_011516447.1:p.Ala170Gly
XM_017014205.2:c.-238C>G	XP_016869694.1:n.-238C>G
XM_024447380.1:c.-238C>G	XP_024303148.1:n.-238C>G
XM_024447381.1:c.74C>G	XP_024303149.1:p.Ala25Gly
XM_024447382.1:c.-238C>G	XP_024303150.1:n.-238C>G
XR_001746160.2:n.1069C>G
XR_001746162.2:n.1135C>G
XR_001746164.1:n.847C>G
XR_001746166.2:n.1286C>G
NM_001077365.2:c.899C>G MANE Select	NP_001070833.1:p.Ala300Gly
NM_001077366.2:c.737C>G	NP_001070834.1:p.Ala246Gly
NM_001136113.2:c.899C>G	NP_001129585.1:p.Ala300Gly
NM_001136114.2:c.548C>G	NP_001129586.1:p.Ala183Gly
NM_001353193.2:c.965C>G	NP_001340122.2:p.Ala322Gly
NM_001353194.2:c.737C>G	NP_001340123.1:p.Ala246Gly
NM_001353195.2:c.548C>G	NP_001340124.1:p.Ala183Gly
NM_001353196.2:c.809C>G	NP_001340125.1:p.Ala270Gly
NM_001353197.2:c.803C>G	NP_001340126.2:p.Ala268Gly
NM_001353198.2:c.803C>G	NP_001340127.2:p.Ala268Gly
NM_001353199.2:c.614C>G	NP_001340128.2:p.Ala205Gly
NM_001353200.2:c.443C>G	NP_001340129.1:p.Ala148Gly
NM_001374689.1:c.882C>G	NP_001361618.1:p.Gly294=
NM_001374690.1:c.899C>G	NP_001361619.1:p.Ala300Gly
NM_001374691.1:c.548C>G	NP_001361620.1:p.Ala183Gly
NM_001374692.1:c.548C>G	NP_001361621.1:p.Ala183Gly
NM_001374693.1:c.737C>G	NP_001361622.1:p.Ala246Gly
NM_001374695.1:c.509C>G	NP_001361624.1:p.Ala170Gly
NM_007171.4:c.965C>G	NP_009102.4:p.Ala322Gly
NR_148391.2:n.933C>G
NR_148392.2:n.1151C>G
NR_148393.2:n.933C>G
NR_148394.2:n.821C>G
NR_148395.2:n.1085C>G
NR_148396.2:n.714C>G
NR_148397.2:n.978C>G
NR_148398.2:n.933C>G
NR_148399.2:n.1325C>G
NR_148400.2:n.919C>G