Canonical Allele Identifier: CA375308610

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134386816C>G (hg19) ; chr9:g.131511429C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131511429C>G , CM000671.2:g.131511429C>G	GRCh38
NC_000009.11:g.134386816C>G , CM000671.1:g.134386816C>G	GRCh37
NC_000009.10:g.133376637C>G	NCBI36
NG_008896.1:g.13528C>G
NG_008896.2:g.13528C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.786C>G	ENSP00000343034.7:p.Pro262=
ENST00000404875.7:n.1320C>G
ENST00000423007.6:c.1005C>G	ENSP00000404119.2:p.Pro335=
ENST00000677295.2:c.*1287C>G	ENSP00000504346.2:n.*1287C>G
ENST00000678264.2:c.*1131C>G	ENSP00000503157.2:n.*1131C>G
ENST00000678942.2:c.*501C>G	ENSP00000504690.2:n.*501C>G
ENST00000682070.1:n.1408C>G
ENST00000682813.1:n.1213C>G
ENST00000683134.1:c.315C>G
ENST00000683392.1:n.3695C>G
ENST00000683712.1:n.1348C>G
ENST00000683900.1:n.2275C>G
ENST00000684062.1:n.1614C>G
ENST00000684579.1:n.2789C>G
ENST00000341012.12:c.786C>G	ENSP00000343034.7:p.Pro262=
ENST00000372220.5:c.-145-612C>G	ENSP00000361294.5:n.-145-612C>G
ENST00000372228.9:c.1014C>G	ENSP00000361302.3:p.Pro338=
ENST00000402686.8:c.948C>G MANE Select	ENSP00000385797.4:p.Pro316=
ENST00000415075.6:c.*401C>G	ENSP00000405149.2:n.*401C>G
ENST00000676640.1:c.948C>G	ENSP00000503281.1:p.Pro316=
ENST00000676803.1:c.123C>G	ENSP00000503093.1:p.Pro41=
ENST00000676835.1:c.*158C>G	ENSP00000502911.1:n.*158C>G
ENST00000677029.1:c.492C>G	ENSP00000502936.1:p.Pro164=
ENST00000677099.1:c.*658C>G	ENSP00000504553.1:n.*658C>G
ENST00000677216.1:c.597C>G	ENSP00000503772.1:p.Pro199=
ENST00000677293.1:c.123C>G	ENSP00000504278.1:p.Pro41=
ENST00000677295.1:c.*320C>G	ENSP00000504346.1:n.*320C>G
ENST00000677444.1:c.754C>G
ENST00000677586.1:n.429C>G
ENST00000677626.1:c.786C>G	ENSP00000503552.1:p.Pro262=
ENST00000677677.1:n.908C>G
ENST00000677853.1:c.529C>G	ENSP00000503488.1:p.Leu177Val
ENST00000677944.1:c.210C>G
ENST00000678264.1:c.*320C>G	ENSP00000503157.1:n.*320C>G
ENST00000678303.1:c.858C>G	ENSP00000503696.1:p.Pro286=
ENST00000678366.1:c.*1197C>G	ENSP00000504353.1:n.*1197C>G
ENST00000678546.1:c.*320C>G	ENSP00000503062.1:n.*320C>G
ENST00000678548.1:c.*1015C>G	ENSP00000503934.1:n.*1015C>G
ENST00000678626.1:n.640C>G
ENST00000678733.1:c.122C>G
ENST00000678739.1:c.*1269C>G	ENSP00000503806.1:n.*1269C>G
ENST00000678833.1:c.*395C>G	ENSP00000503893.1:n.*395C>G
ENST00000678942.1:c.123C>G	ENSP00000504690.1:p.Pro41=
ENST00000679023.1:c.786C>G	ENSP00000503718.1:p.Pro262=
ENST00000679073.1:c.326C>G	ENSP00000504356.1:n.326C>G
ENST00000679076.1:c.562C>G
ENST00000679111.1:c.948C>G	ENSP00000504257.1:p.Pro316=
ENST00000679189.1:c.597C>G	ENSP00000503356.1:p.Pro199=
ENST00000341012.11:c.786C>G	ENSP00000343034.7:p.Pro262=
ENST00000372228.7:c.1014C>G	ENSP00000361302.3:p.Pro338=
ENST00000402686.7:c.948C>G	ENSP00000385797.3:p.Pro316=
ENST00000404875.6:c.597C>G	ENSP00000384531.2:p.Pro199=
ENST00000415075.5:c.340C>G	ENSP00000405149.1:p.Leu114Val
ENST00000423007.5:c.948C>G	ENSP00000404119.1:p.Pro316=
ENST00000441334.5:c.663C>G	ENSP00000395060.1:p.Pro221=
ENST00000462375.5:n.769C>G
ENST00000485278.5:n.930C>G
NM_001077365.1:c.948C>G	NP_001070833.1:p.Pro316=
NM_001077366.1:c.786C>G	NP_001070834.1:p.Pro262=
NM_001136113.1:c.948C>G	NP_001129585.1:p.Pro316=
NM_001136114.1:c.597C>G	NP_001129586.1:p.Pro199=
NM_007171.3:c.1014C>G	NP_009102.3:p.Pro338=
XM_005272156.1:c.1014C>G	XP_005272213.1:p.Pro338=
XM_005272158.1:c.852C>G	XP_005272215.1:p.Pro284=
XM_005272159.1:c.663C>G	XP_005272216.1:p.Pro221=
XM_005272162.1:c.-189C>G	XP_005272219.1:n.-189C>G
XM_006716932.1:c.663C>G	XP_006716995.1:p.Pro221=
XM_011518140.1:c.867C>G	XP_011516442.1:p.Pro289=
XM_011518141.1:c.801C>G	XP_011516443.1:p.Pro267=
XM_011518142.1:c.705C>G	XP_011516444.1:p.Pro235=
XM_011518143.1:c.694C>G	XP_011516445.1:p.Leu232Val
XM_011518144.1:c.1014C>G	XP_011516446.1:p.Pro338=
XM_011518145.1:c.558C>G	XP_011516447.1:p.Pro186=
XM_011518146.1:c.694C>G	XP_011516448.1:p.Leu232Val
XR_929703.1:n.1190C>G
NM_001353193.1:c.1014C>G	NP_001340122.1:p.Pro338=
NM_001353194.1:c.786C>G	NP_001340123.1:p.Pro262=
NM_001353195.1:c.597C>G	NP_001340124.1:p.Pro199=
NM_001353196.1:c.858C>G	NP_001340125.1:p.Pro286=
NM_001353197.1:c.852C>G	NP_001340126.1:p.Pro284=
NM_001353198.1:c.852C>G	NP_001340127.1:p.Pro284=
NM_001353199.1:c.663C>G	NP_001340128.1:p.Pro221=
NM_001353200.1:c.492C>G	NP_001340129.1:p.Pro164=
NR_148391.1:n.998C>G
NR_148392.1:n.1216C>G
NR_148393.1:n.998C>G
NR_148394.1:n.886C>G
NR_148395.1:n.1150C>G
NR_148396.1:n.779C>G
NR_148397.1:n.1043C>G
NR_148398.1:n.998C>G
NR_148399.1:n.1390C>G
NR_148400.1:n.984C>G
XM_005272162.3:c.-189C>G	XP_005272219.1:n.-189C>G
XM_006716932.2:c.663C>G	XP_006716995.1:p.Pro221=
XM_011518140.2:c.867C>G	XP_011516442.1:p.Pro289=
XM_011518141.2:c.801C>G	XP_011516443.1:p.Pro267=
XM_011518142.2:c.705C>G	XP_011516444.1:p.Pro235=
XM_011518143.2:c.694C>G	XP_011516445.1:p.Leu232Val
XM_011518145.2:c.558C>G	XP_011516447.1:p.Pro186=
XM_017014205.2:c.-189C>G	XP_016869694.1:n.-189C>G
XM_024447380.1:c.-189C>G	XP_024303148.1:n.-189C>G
XM_024447381.1:c.123C>G	XP_024303149.1:p.Pro41=
XM_024447382.1:c.-189C>G	XP_024303150.1:n.-189C>G
XR_001746160.2:n.1118C>G
XR_001746162.2:n.1184C>G
XR_001746164.1:n.896C>G
XR_001746166.2:n.1335C>G
NM_001077365.2:c.948C>G MANE Select	NP_001070833.1:p.Pro316=
NM_001077366.2:c.786C>G	NP_001070834.1:p.Pro262=
NM_001136113.2:c.948C>G	NP_001129585.1:p.Pro316=
NM_001136114.2:c.597C>G	NP_001129586.1:p.Pro199=
NM_001353193.2:c.1014C>G	NP_001340122.2:p.Pro338=
NM_001353194.2:c.786C>G	NP_001340123.1:p.Pro262=
NM_001353195.2:c.597C>G	NP_001340124.1:p.Pro199=
NM_001353196.2:c.858C>G	NP_001340125.1:p.Pro286=
NM_001353197.2:c.852C>G	NP_001340126.2:p.Pro284=
NM_001353198.2:c.852C>G	NP_001340127.2:p.Pro284=
NM_001353199.2:c.663C>G	NP_001340128.2:p.Pro221=
NM_001353200.2:c.492C>G	NP_001340129.1:p.Pro164=
NM_001374689.1:c.931C>G	NP_001361618.1:p.Leu311Val
NM_001374690.1:c.948C>G	NP_001361619.1:p.Pro316=
NM_001374691.1:c.597C>G	NP_001361620.1:p.Pro199=
NM_001374692.1:c.597C>G	NP_001361621.1:p.Pro199=
NM_001374693.1:c.786C>G	NP_001361622.1:p.Pro262=
NM_001374695.1:c.558C>G	NP_001361624.1:p.Pro186=
NM_007171.4:c.1014C>G	NP_009102.4:p.Pro338=
NR_148391.2:n.982C>G
NR_148392.2:n.1200C>G
NR_148393.2:n.982C>G
NR_148394.2:n.870C>G
NR_148395.2:n.1134C>G
NR_148396.2:n.763C>G
NR_148397.2:n.1027C>G
NR_148398.2:n.982C>G
NR_148399.2:n.1374C>G
NR_148400.2:n.968C>G