Canonical Allele Identifier: CA375308536

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134386790A>G (hg19) ; chr9:g.131511403A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131511403A>G , CM000671.2:g.131511403A>G	GRCh38
NC_000009.11:g.134386790A>G , CM000671.1:g.134386790A>G	GRCh37
NC_000009.10:g.133376611A>G	NCBI36
NG_008896.1:g.13502A>G
NG_008896.2:g.13502A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.760A>G	ENSP00000343034.7:p.Arg254Gly
ENST00000404875.7:n.1294A>G
ENST00000423007.6:c.979A>G	ENSP00000404119.2:p.Arg327Gly
ENST00000677295.2:c.*1261A>G	ENSP00000504346.2:n.*1261A>G
ENST00000678264.2:c.*1105A>G	ENSP00000503157.2:n.*1105A>G
ENST00000678942.2:c.*475A>G	ENSP00000504690.2:n.*475A>G
ENST00000682070.1:n.1382A>G
ENST00000682813.1:n.1187A>G
ENST00000683134.1:c.289A>G
ENST00000683392.1:n.3669A>G
ENST00000683712.1:n.1322A>G
ENST00000683900.1:n.2249A>G
ENST00000684062.1:n.1588A>G
ENST00000684579.1:n.2763A>G
ENST00000341012.12:c.760A>G	ENSP00000343034.7:p.Arg254Gly
ENST00000372220.5:c.-145-638A>G	ENSP00000361294.5:n.-145-638A>G
ENST00000372228.9:c.988A>G	ENSP00000361302.3:p.Arg330Gly
ENST00000402686.8:c.922A>G MANE Select	ENSP00000385797.4:p.Arg308Gly
ENST00000415075.6:c.*375A>G	ENSP00000405149.2:n.*375A>G
ENST00000676640.1:c.922A>G	ENSP00000503281.1:p.Arg308Gly
ENST00000676803.1:c.97A>G	ENSP00000503093.1:p.Arg33Gly
ENST00000676835.1:c.*132A>G	ENSP00000502911.1:n.*132A>G
ENST00000677029.1:c.466A>G	ENSP00000502936.1:p.Arg156Gly
ENST00000677099.1:c.*632A>G	ENSP00000504553.1:n.*632A>G
ENST00000677216.1:c.571A>G	ENSP00000503772.1:p.Arg191Gly
ENST00000677293.1:c.97A>G	ENSP00000504278.1:p.Arg33Gly
ENST00000677295.1:c.*294A>G	ENSP00000504346.1:n.*294A>G
ENST00000677444.1:c.728A>G
ENST00000677586.1:n.403A>G
ENST00000677626.1:c.760A>G	ENSP00000503552.1:p.Arg254Gly
ENST00000677677.1:n.882A>G
ENST00000677853.1:c.503A>G	ENSP00000503488.1:p.Glu168Gly
ENST00000677944.1:c.184A>G
ENST00000678264.1:c.*294A>G	ENSP00000503157.1:n.*294A>G
ENST00000678303.1:c.832A>G	ENSP00000503696.1:p.Arg278Gly
ENST00000678366.1:c.*1171A>G	ENSP00000504353.1:n.*1171A>G
ENST00000678546.1:c.*294A>G	ENSP00000503062.1:n.*294A>G
ENST00000678548.1:c.*989A>G	ENSP00000503934.1:n.*989A>G
ENST00000678626.1:n.614A>G
ENST00000678707.1:n.560A>G
ENST00000678733.1:c.96A>G
ENST00000678739.1:c.*1243A>G	ENSP00000503806.1:n.*1243A>G
ENST00000678833.1:c.*369A>G	ENSP00000503893.1:n.*369A>G
ENST00000678942.1:c.97A>G	ENSP00000504690.1:p.Arg33Gly
ENST00000679023.1:c.760A>G	ENSP00000503718.1:p.Arg254Gly
ENST00000679073.1:c.300A>G	ENSP00000504356.1:n.300A>G
ENST00000679076.1:c.536A>G
ENST00000679111.1:c.922A>G	ENSP00000504257.1:p.Arg308Gly
ENST00000679189.1:c.571A>G	ENSP00000503356.1:p.Arg191Gly
ENST00000341012.11:c.760A>G	ENSP00000343034.7:p.Arg254Gly
ENST00000372228.7:c.988A>G	ENSP00000361302.3:p.Arg330Gly
ENST00000402686.7:c.922A>G	ENSP00000385797.3:p.Arg308Gly
ENST00000404875.6:c.571A>G	ENSP00000384531.2:p.Arg191Gly
ENST00000415075.5:c.314A>G	ENSP00000405149.1:p.Glu105Gly
ENST00000423007.5:c.922A>G	ENSP00000404119.1:p.Arg308Gly
ENST00000441334.5:c.637A>G	ENSP00000395060.1:p.Arg213Gly
ENST00000462375.5:n.743A>G
ENST00000485278.5:n.904A>G
NM_001077365.1:c.922A>G	NP_001070833.1:p.Arg308Gly
NM_001077366.1:c.760A>G	NP_001070834.1:p.Arg254Gly
NM_001136113.1:c.922A>G	NP_001129585.1:p.Arg308Gly
NM_001136114.1:c.571A>G	NP_001129586.1:p.Arg191Gly
NM_007171.3:c.988A>G	NP_009102.3:p.Arg330Gly
XM_005272156.1:c.988A>G	XP_005272213.1:p.Arg330Gly
XM_005272158.1:c.826A>G	XP_005272215.1:p.Arg276Gly
XM_005272159.1:c.637A>G	XP_005272216.1:p.Arg213Gly
XM_005272162.1:c.-215A>G	XP_005272219.1:n.-215A>G
XM_006716932.1:c.637A>G	XP_006716995.1:p.Arg213Gly
XM_011518140.1:c.841A>G	XP_011516442.1:p.Arg281Gly
XM_011518141.1:c.775A>G	XP_011516443.1:p.Arg259Gly
XM_011518142.1:c.679A>G	XP_011516444.1:p.Arg227Gly
XM_011518143.1:c.668A>G	XP_011516445.1:p.Glu223Gly
XM_011518144.1:c.988A>G	XP_011516446.1:p.Arg330Gly
XM_011518145.1:c.532A>G	XP_011516447.1:p.Arg178Gly
XM_011518146.1:c.668A>G	XP_011516448.1:p.Glu223Gly
XR_929703.1:n.1164A>G
NM_001353193.1:c.988A>G	NP_001340122.1:p.Arg330Gly
NM_001353194.1:c.760A>G	NP_001340123.1:p.Arg254Gly
NM_001353195.1:c.571A>G	NP_001340124.1:p.Arg191Gly
NM_001353196.1:c.832A>G	NP_001340125.1:p.Arg278Gly
NM_001353197.1:c.826A>G	NP_001340126.1:p.Arg276Gly
NM_001353198.1:c.826A>G	NP_001340127.1:p.Arg276Gly
NM_001353199.1:c.637A>G	NP_001340128.1:p.Arg213Gly
NM_001353200.1:c.466A>G	NP_001340129.1:p.Arg156Gly
NR_148391.1:n.972A>G
NR_148392.1:n.1190A>G
NR_148393.1:n.972A>G
NR_148394.1:n.860A>G
NR_148395.1:n.1124A>G
NR_148396.1:n.753A>G
NR_148397.1:n.1017A>G
NR_148398.1:n.972A>G
NR_148399.1:n.1364A>G
NR_148400.1:n.958A>G
XM_005272162.3:c.-215A>G	XP_005272219.1:n.-215A>G
XM_006716932.2:c.637A>G	XP_006716995.1:p.Arg213Gly
XM_011518140.2:c.841A>G	XP_011516442.1:p.Arg281Gly
XM_011518141.2:c.775A>G	XP_011516443.1:p.Arg259Gly
XM_011518142.2:c.679A>G	XP_011516444.1:p.Arg227Gly
XM_011518143.2:c.668A>G	XP_011516445.1:p.Glu223Gly
XM_011518145.2:c.532A>G	XP_011516447.1:p.Arg178Gly
XM_017014205.2:c.-215A>G	XP_016869694.1:n.-215A>G
XM_024447380.1:c.-215A>G	XP_024303148.1:n.-215A>G
XM_024447381.1:c.97A>G	XP_024303149.1:p.Arg33Gly
XM_024447382.1:c.-215A>G	XP_024303150.1:n.-215A>G
XR_001746160.2:n.1092A>G
XR_001746162.2:n.1158A>G
XR_001746164.1:n.870A>G
XR_001746166.2:n.1309A>G
NM_001077365.2:c.922A>G MANE Select	NP_001070833.1:p.Arg308Gly
NM_001077366.2:c.760A>G	NP_001070834.1:p.Arg254Gly
NM_001136113.2:c.922A>G	NP_001129585.1:p.Arg308Gly
NM_001136114.2:c.571A>G	NP_001129586.1:p.Arg191Gly
NM_001353193.2:c.988A>G	NP_001340122.2:p.Arg330Gly
NM_001353194.2:c.760A>G	NP_001340123.1:p.Arg254Gly
NM_001353195.2:c.571A>G	NP_001340124.1:p.Arg191Gly
NM_001353196.2:c.832A>G	NP_001340125.1:p.Arg278Gly
NM_001353197.2:c.826A>G	NP_001340126.2:p.Arg276Gly
NM_001353198.2:c.826A>G	NP_001340127.2:p.Arg276Gly
NM_001353199.2:c.637A>G	NP_001340128.2:p.Arg213Gly
NM_001353200.2:c.466A>G	NP_001340129.1:p.Arg156Gly
NM_001374689.1:c.905A>G	NP_001361618.1:p.Glu302Gly
NM_001374690.1:c.922A>G	NP_001361619.1:p.Arg308Gly
NM_001374691.1:c.571A>G	NP_001361620.1:p.Arg191Gly
NM_001374692.1:c.571A>G	NP_001361621.1:p.Arg191Gly
NM_001374693.1:c.760A>G	NP_001361622.1:p.Arg254Gly
NM_001374695.1:c.532A>G	NP_001361624.1:p.Arg178Gly
NM_007171.4:c.988A>G	NP_009102.4:p.Arg330Gly
NR_148391.2:n.956A>G
NR_148392.2:n.1174A>G
NR_148393.2:n.956A>G
NR_148394.2:n.844A>G
NR_148395.2:n.1108A>G
NR_148396.2:n.737A>G
NR_148397.2:n.1001A>G
NR_148398.2:n.956A>G
NR_148399.2:n.1348A>G
NR_148400.2:n.942A>G