Canonical Allele Identifier: CA375311259

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134393869A>C (hg19) ; chr9:g.131518482A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518482A>C , CM000671.2:g.131518482A>C	GRCh38
NC_000009.11:g.134393869A>C , CM000671.1:g.134393869A>C	GRCh37
NC_000009.10:g.133383690A>C	NCBI36
NG_008896.1:g.20581A>C
NG_008896.2:g.20581A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1148A>C	ENSP00000343034.7:p.Lys383Thr
ENST00000404875.7:n.1850A>C
ENST00000423007.6:c.1367A>C	ENSP00000404119.2:p.Lys456Thr
ENST00000677295.2:c.*1654A>C	ENSP00000504346.2:n.*1654A>C
ENST00000678264.2:c.*1493A>C	ENSP00000503157.2:n.*1493A>C
ENST00000682070.1:n.1775A>C
ENST00000682535.1:n.82A>C
ENST00000682539.1:c.248A>C
ENST00000682813.1:n.1575A>C
ENST00000683110.1:n.38A>C
ENST00000683392.1:n.4057A>C
ENST00000683712.1:n.1715A>C
ENST00000683900.1:n.3210A>C
ENST00000684062.1:n.1976A>C
ENST00000684579.1:n.3156A>C
ENST00000684679.1:n.537A>C
ENST00000341012.12:c.1148A>C	ENSP00000343034.7:p.Lys383Thr
ENST00000372220.5:c.179A>C	ENSP00000361294.5:p.Lys60Thr
ENST00000372228.9:c.1376A>C	ENSP00000361302.3:p.Lys459Thr
ENST00000402686.8:c.1310A>C MANE Select	ENSP00000385797.4:p.Lys437Thr
ENST00000676640.1:c.1310A>C	ENSP00000503281.1:p.Lys437Thr
ENST00000676803.1:c.485A>C	ENSP00000503093.1:p.Lys162Thr
ENST00000676835.1:c.*525A>C	ENSP00000502911.1:n.*525A>C
ENST00000677029.1:c.854A>C	ENSP00000502936.1:p.Lys285Thr
ENST00000677099.1:c.*1020A>C	ENSP00000504553.1:n.*1020A>C
ENST00000677216.1:c.959A>C	ENSP00000503772.1:p.Lys320Thr
ENST00000677221.1:n.335A>C
ENST00000677295.1:c.*687A>C	ENSP00000504346.1:n.*687A>C
ENST00000677444.1:c.1116A>C
ENST00000677586.1:n.791A>C
ENST00000677626.1:c.959A>C	ENSP00000503552.1:p.Lys320Thr
ENST00000677677.1:n.1270A>C
ENST00000677853.1:c.*318A>C	ENSP00000503488.1:n.*318A>C
ENST00000677983.1:n.399A>C
ENST00000678202.1:n.330A>C
ENST00000678264.1:c.*687A>C	ENSP00000503157.1:n.*687A>C
ENST00000678303.1:c.1220A>C	ENSP00000503696.1:p.Lys407Thr
ENST00000678366.1:c.*1559A>C	ENSP00000504353.1:n.*1559A>C
ENST00000678546.1:c.*1255A>C	ENSP00000503062.1:n.*1255A>C
ENST00000678548.1:c.*1382A>C	ENSP00000503934.1:n.*1382A>C
ENST00000678626.1:n.1007A>C
ENST00000678733.1:c.391A>C
ENST00000678739.1:c.*1636A>C	ENSP00000503806.1:n.*1636A>C
ENST00000678795.1:n.397A>C
ENST00000678833.1:c.*757A>C	ENSP00000503893.1:n.*757A>C
ENST00000678942.1:c.490A>C	ENSP00000504690.1:n.490A>C
ENST00000679023.1:c.1148A>C	ENSP00000503718.1:p.Lys383Thr
ENST00000679076.1:c.929A>C
ENST00000679111.1:c.1310A>C	ENSP00000504257.1:p.Lys437Thr
ENST00000679189.1:c.959A>C	ENSP00000503356.1:p.Lys320Thr
ENST00000341012.11:c.1148A>C	ENSP00000343034.7:p.Lys383Thr
ENST00000372220.4:c.173A>C	ENSP00000361294.4:p.Lys58Thr
ENST00000372228.7:c.1376A>C	ENSP00000361302.3:p.Lys459Thr
ENST00000402686.7:c.1310A>C	ENSP00000385797.3:p.Lys437Thr
ENST00000404875.6:c.959A>C	ENSP00000384531.2:p.Lys320Thr
ENST00000423007.5:c.1310A>C	ENSP00000404119.1:p.Lys437Thr
ENST00000485278.5:n.1865A>C
NM_001077365.1:c.1310A>C	NP_001070833.1:p.Lys437Thr
NM_001077366.1:c.1148A>C	NP_001070834.1:p.Lys383Thr
NM_001136113.1:c.1310A>C	NP_001129585.1:p.Lys437Thr
NM_001136114.1:c.959A>C	NP_001129586.1:p.Lys320Thr
NM_007171.3:c.1376A>C	NP_009102.3:p.Lys459Thr
XM_005272156.1:c.1376A>C	XP_005272213.1:p.Lys459Thr
XM_005272158.1:c.1214A>C	XP_005272215.1:p.Lys405Thr
XM_005272159.1:c.1025A>C	XP_005272216.1:p.Lys342Thr
XM_005272162.1:c.179A>C	XP_005272219.1:p.Lys60Thr
XM_006716932.1:c.1025A>C	XP_006716995.1:p.Lys342Thr
XM_011518140.1:c.1229A>C	XP_011516442.1:p.Lys410Thr
XM_011518141.1:c.1163A>C	XP_011516443.1:p.Lys388Thr
XM_011518142.1:c.1067A>C	XP_011516444.1:p.Lys356Thr
XM_011518143.1:c.1061A>C	XP_011516445.1:p.Lys354Thr
XM_011518144.1:c.1376A>C	XP_011516446.1:p.Lys459Thr
XM_011518145.1:c.920A>C	XP_011516447.1:p.Lys307Thr
XM_011518146.1:c.1061A>C	XP_011516448.1:p.Lys354Thr
XM_011518147.1:c.248A>C	XP_011516449.1:p.Lys83Thr
XR_929703.1:n.1552A>C
NM_001353193.1:c.1376A>C	NP_001340122.1:p.Lys459Thr
NM_001353194.1:c.1148A>C	NP_001340123.1:p.Lys383Thr
NM_001353195.1:c.959A>C	NP_001340124.1:p.Lys320Thr
NM_001353196.1:c.1220A>C	NP_001340125.1:p.Lys407Thr
NM_001353197.1:c.1214A>C	NP_001340126.1:p.Lys405Thr
NM_001353198.1:c.1214A>C	NP_001340127.1:p.Lys405Thr
NM_001353199.1:c.1025A>C	NP_001340128.1:p.Lys342Thr
NM_001353200.1:c.854A>C	NP_001340129.1:p.Lys285Thr
NR_148391.1:n.1360A>C
NR_148392.1:n.1578A>C
NR_148393.1:n.1360A>C
NR_148394.1:n.1253A>C
NR_148395.1:n.1512A>C
NR_148396.1:n.1146A>C
NR_148397.1:n.1410A>C
NR_148398.1:n.1365A>C
NR_148399.1:n.1752A>C
NR_148400.1:n.1351A>C
XM_005272162.3:c.179A>C	XP_005272219.1:p.Lys60Thr
XM_006716932.2:c.1025A>C	XP_006716995.1:p.Lys342Thr
XM_011518140.2:c.1229A>C	XP_011516442.1:p.Lys410Thr
XM_011518141.2:c.1163A>C	XP_011516443.1:p.Lys388Thr
XM_011518142.2:c.1067A>C	XP_011516444.1:p.Lys356Thr
XM_011518143.2:c.1061A>C	XP_011516445.1:p.Lys354Thr
XM_011518145.2:c.920A>C	XP_011516447.1:p.Lys307Thr
XM_017014205.2:c.179A>C	XP_016869694.1:p.Lys60Thr
XM_024447380.1:c.179A>C	XP_024303148.1:p.Lys60Thr
XM_024447381.1:c.485A>C	XP_024303149.1:p.Lys162Thr
XM_024447382.1:c.179A>C	XP_024303150.1:p.Lys60Thr
XR_001746160.2:n.1480A>C
XR_001746162.2:n.1546A>C
XR_001746164.1:n.1263A>C
XR_001746166.2:n.1697A>C
NM_001077365.2:c.1310A>C MANE Select	NP_001070833.1:p.Lys437Thr
NM_001077366.2:c.1148A>C	NP_001070834.1:p.Lys383Thr
NM_001136113.2:c.1310A>C	NP_001129585.1:p.Lys437Thr
NM_001136114.2:c.959A>C	NP_001129586.1:p.Lys320Thr
NM_001353193.2:c.1376A>C	NP_001340122.2:p.Lys459Thr
NM_001353194.2:c.1148A>C	NP_001340123.1:p.Lys383Thr
NM_001353195.2:c.959A>C	NP_001340124.1:p.Lys320Thr
NM_001353196.2:c.1220A>C	NP_001340125.1:p.Lys407Thr
NM_001353197.2:c.1214A>C	NP_001340126.2:p.Lys405Thr
NM_001353198.2:c.1214A>C	NP_001340127.2:p.Lys405Thr
NM_001353199.2:c.1025A>C	NP_001340128.2:p.Lys342Thr
NM_001353200.2:c.854A>C	NP_001340129.1:p.Lys285Thr
NM_001374689.1:c.1298A>C	NP_001361618.1:p.Lys433Thr
NM_001374690.1:c.1310A>C	NP_001361619.1:p.Lys437Thr
NM_001374691.1:c.959A>C	NP_001361620.1:p.Lys320Thr
NM_001374692.1:c.959A>C	NP_001361621.1:p.Lys320Thr
NM_001374693.1:c.959A>C	NP_001361622.1:p.Lys320Thr
NM_001374695.1:c.920A>C	NP_001361624.1:p.Lys307Thr
NM_007171.4:c.1376A>C	NP_009102.4:p.Lys459Thr
NR_148391.2:n.1344A>C
NR_148392.2:n.1562A>C
NR_148393.2:n.1344A>C
NR_148394.2:n.1237A>C
NR_148395.2:n.1496A>C
NR_148396.2:n.1130A>C
NR_148397.2:n.1394A>C
NR_148398.2:n.1349A>C
NR_148399.2:n.1736A>C
NR_148400.2:n.1335A>C