Canonical Allele Identifier: CA375311125

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134393845G>A (hg19) ; chr9:g.131518458G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518458G>A , CM000671.2:g.131518458G>A	GRCh38
NC_000009.11:g.134393845G>A , CM000671.1:g.134393845G>A	GRCh37
NC_000009.10:g.133383666G>A	NCBI36
NG_008896.1:g.20557G>A
NG_008896.2:g.20557G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1124G>A	ENSP00000343034.7:p.Arg375Lys
ENST00000404875.7:n.1826G>A
ENST00000423007.6:c.1343G>A	ENSP00000404119.2:p.Arg448Lys
ENST00000677295.2:c.*1630G>A	ENSP00000504346.2:n.*1630G>A
ENST00000678264.2:c.*1469G>A	ENSP00000503157.2:n.*1469G>A
ENST00000682070.1:n.1751G>A
ENST00000682535.1:n.58G>A
ENST00000682539.1:c.224G>A
ENST00000682813.1:n.1551G>A
ENST00000683110.1:n.14G>A
ENST00000683392.1:n.4033G>A
ENST00000683712.1:n.1691G>A
ENST00000683900.1:n.3186G>A
ENST00000684062.1:n.1952G>A
ENST00000684579.1:n.3132G>A
ENST00000684679.1:n.513G>A
ENST00000341012.12:c.1124G>A	ENSP00000343034.7:p.Arg375Lys
ENST00000372220.5:c.155G>A	ENSP00000361294.5:p.Arg52Lys
ENST00000372228.9:c.1352G>A	ENSP00000361302.3:p.Arg451Lys
ENST00000402686.8:c.1286G>A MANE Select	ENSP00000385797.4:p.Arg429Lys
ENST00000676640.1:c.1286G>A	ENSP00000503281.1:p.Arg429Lys
ENST00000676803.1:c.461G>A	ENSP00000503093.1:p.Arg154Lys
ENST00000676835.1:c.*501G>A	ENSP00000502911.1:n.*501G>A
ENST00000677029.1:c.830G>A	ENSP00000502936.1:p.Arg277Lys
ENST00000677099.1:c.*996G>A	ENSP00000504553.1:n.*996G>A
ENST00000677216.1:c.935G>A	ENSP00000503772.1:p.Arg312Lys
ENST00000677221.1:n.311G>A
ENST00000677295.1:c.*663G>A	ENSP00000504346.1:n.*663G>A
ENST00000677444.1:c.1092G>A
ENST00000677586.1:n.767G>A
ENST00000677626.1:c.935G>A	ENSP00000503552.1:p.Arg312Lys
ENST00000677677.1:n.1246G>A
ENST00000677853.1:c.*294G>A	ENSP00000503488.1:n.*294G>A
ENST00000677944.1:c.548G>A
ENST00000677983.1:n.375G>A
ENST00000678202.1:n.306G>A
ENST00000678264.1:c.*663G>A	ENSP00000503157.1:n.*663G>A
ENST00000678303.1:c.1196G>A	ENSP00000503696.1:p.Arg399Lys
ENST00000678366.1:c.*1535G>A	ENSP00000504353.1:n.*1535G>A
ENST00000678546.1:c.*1231G>A	ENSP00000503062.1:n.*1231G>A
ENST00000678548.1:c.*1358G>A	ENSP00000503934.1:n.*1358G>A
ENST00000678626.1:n.983G>A
ENST00000678733.1:c.367G>A
ENST00000678739.1:c.*1612G>A	ENSP00000503806.1:n.*1612G>A
ENST00000678795.1:n.373G>A
ENST00000678833.1:c.*733G>A	ENSP00000503893.1:n.*733G>A
ENST00000678942.1:c.466G>A	ENSP00000504690.1:n.466G>A
ENST00000679023.1:c.1124G>A	ENSP00000503718.1:p.Arg375Lys
ENST00000679076.1:c.905G>A
ENST00000679111.1:c.1286G>A	ENSP00000504257.1:p.Arg429Lys
ENST00000679189.1:c.935G>A	ENSP00000503356.1:p.Arg312Lys
ENST00000341012.11:c.1124G>A	ENSP00000343034.7:p.Arg375Lys
ENST00000372220.4:c.149G>A	ENSP00000361294.4:p.Arg50Lys
ENST00000372228.7:c.1352G>A	ENSP00000361302.3:p.Arg451Lys
ENST00000402686.7:c.1286G>A	ENSP00000385797.3:p.Arg429Lys
ENST00000404875.6:c.935G>A	ENSP00000384531.2:p.Arg312Lys
ENST00000423007.5:c.1286G>A	ENSP00000404119.1:p.Arg429Lys
ENST00000485278.5:n.1841G>A
NM_001077365.1:c.1286G>A	NP_001070833.1:p.Arg429Lys
NM_001077366.1:c.1124G>A	NP_001070834.1:p.Arg375Lys
NM_001136113.1:c.1286G>A	NP_001129585.1:p.Arg429Lys
NM_001136114.1:c.935G>A	NP_001129586.1:p.Arg312Lys
NM_007171.3:c.1352G>A	NP_009102.3:p.Arg451Lys
XM_005272156.1:c.1352G>A	XP_005272213.1:p.Arg451Lys
XM_005272158.1:c.1190G>A	XP_005272215.1:p.Arg397Lys
XM_005272159.1:c.1001G>A	XP_005272216.1:p.Arg334Lys
XM_005272162.1:c.155G>A	XP_005272219.1:p.Arg52Lys
XM_006716932.1:c.1001G>A	XP_006716995.1:p.Arg334Lys
XM_011518140.1:c.1205G>A	XP_011516442.1:p.Arg402Lys
XM_011518141.1:c.1139G>A	XP_011516443.1:p.Arg380Lys
XM_011518142.1:c.1043G>A	XP_011516444.1:p.Arg348Lys
XM_011518143.1:c.1037G>A	XP_011516445.1:p.Arg346Lys
XM_011518144.1:c.1352G>A	XP_011516446.1:p.Arg451Lys
XM_011518145.1:c.896G>A	XP_011516447.1:p.Arg299Lys
XM_011518146.1:c.1037G>A	XP_011516448.1:p.Arg346Lys
XM_011518147.1:c.224G>A	XP_011516449.1:p.Arg75Lys
XR_929703.1:n.1528G>A
NM_001353193.1:c.1352G>A	NP_001340122.1:p.Arg451Lys
NM_001353194.1:c.1124G>A	NP_001340123.1:p.Arg375Lys
NM_001353195.1:c.935G>A	NP_001340124.1:p.Arg312Lys
NM_001353196.1:c.1196G>A	NP_001340125.1:p.Arg399Lys
NM_001353197.1:c.1190G>A	NP_001340126.1:p.Arg397Lys
NM_001353198.1:c.1190G>A	NP_001340127.1:p.Arg397Lys
NM_001353199.1:c.1001G>A	NP_001340128.1:p.Arg334Lys
NM_001353200.1:c.830G>A	NP_001340129.1:p.Arg277Lys
NR_148391.1:n.1336G>A
NR_148392.1:n.1554G>A
NR_148393.1:n.1336G>A
NR_148394.1:n.1229G>A
NR_148395.1:n.1488G>A
NR_148396.1:n.1122G>A
NR_148397.1:n.1386G>A
NR_148398.1:n.1341G>A
NR_148399.1:n.1728G>A
NR_148400.1:n.1327G>A
XM_005272162.3:c.155G>A	XP_005272219.1:p.Arg52Lys
XM_006716932.2:c.1001G>A	XP_006716995.1:p.Arg334Lys
XM_011518140.2:c.1205G>A	XP_011516442.1:p.Arg402Lys
XM_011518141.2:c.1139G>A	XP_011516443.1:p.Arg380Lys
XM_011518142.2:c.1043G>A	XP_011516444.1:p.Arg348Lys
XM_011518143.2:c.1037G>A	XP_011516445.1:p.Arg346Lys
XM_011518145.2:c.896G>A	XP_011516447.1:p.Arg299Lys
XM_017014205.2:c.155G>A	XP_016869694.1:p.Arg52Lys
XM_024447380.1:c.155G>A	XP_024303148.1:p.Arg52Lys
XM_024447381.1:c.461G>A	XP_024303149.1:p.Arg154Lys
XM_024447382.1:c.155G>A	XP_024303150.1:p.Arg52Lys
XR_001746160.2:n.1456G>A
XR_001746162.2:n.1522G>A
XR_001746164.1:n.1239G>A
XR_001746166.2:n.1673G>A
NM_001077365.2:c.1286G>A MANE Select	NP_001070833.1:p.Arg429Lys
NM_001077366.2:c.1124G>A	NP_001070834.1:p.Arg375Lys
NM_001136113.2:c.1286G>A	NP_001129585.1:p.Arg429Lys
NM_001136114.2:c.935G>A	NP_001129586.1:p.Arg312Lys
NM_001353193.2:c.1352G>A	NP_001340122.2:p.Arg451Lys
NM_001353194.2:c.1124G>A	NP_001340123.1:p.Arg375Lys
NM_001353195.2:c.935G>A	NP_001340124.1:p.Arg312Lys
NM_001353196.2:c.1196G>A	NP_001340125.1:p.Arg399Lys
NM_001353197.2:c.1190G>A	NP_001340126.2:p.Arg397Lys
NM_001353198.2:c.1190G>A	NP_001340127.2:p.Arg397Lys
NM_001353199.2:c.1001G>A	NP_001340128.2:p.Arg334Lys
NM_001353200.2:c.830G>A	NP_001340129.1:p.Arg277Lys
NM_001374689.1:c.1274G>A	NP_001361618.1:p.Arg425Lys
NM_001374690.1:c.1286G>A	NP_001361619.1:p.Arg429Lys
NM_001374691.1:c.935G>A	NP_001361620.1:p.Arg312Lys
NM_001374692.1:c.935G>A	NP_001361621.1:p.Arg312Lys
NM_001374693.1:c.935G>A	NP_001361622.1:p.Arg312Lys
NM_001374695.1:c.896G>A	NP_001361624.1:p.Arg299Lys
NM_007171.4:c.1352G>A	NP_009102.4:p.Arg451Lys
NR_148391.2:n.1320G>A
NR_148392.2:n.1538G>A
NR_148393.2:n.1320G>A
NR_148394.2:n.1213G>A
NR_148395.2:n.1472G>A
NR_148396.2:n.1106G>A
NR_148397.2:n.1370G>A
NR_148398.2:n.1325G>A
NR_148399.2:n.1712G>A
NR_148400.2:n.1311G>A