Canonical Allele Identifier: CA375312022

Gene: POMT1

Linked Data

• gnomAD v4: 9-131518919-G-C
• MyVariant Identifiers: chr9:g.134394306G>C (hg19) ; chr9:g.131518919G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518919G>C , CM000671.2:g.131518919G>C	GRCh38
NC_000009.11:g.134394306G>C , CM000671.1:g.134394306G>C	GRCh37
NC_000009.10:g.133384127G>C	NCBI36
NG_008896.1:g.21018G>C
NG_008896.2:g.21018G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1286G>C	ENSP00000343034.7:p.Ser429Thr
ENST00000404875.7:n.1988G>C
ENST00000423007.6:c.1505G>C	ENSP00000404119.2:p.Ser502Thr
ENST00000677295.2:c.*1792G>C	ENSP00000504346.2:n.*1792G>C
ENST00000678264.2:c.*1631G>C	ENSP00000503157.2:n.*1631G>C
ENST00000682070.1:n.1913G>C
ENST00000682539.1:c.386G>C
ENST00000682813.1:n.1852G>C
ENST00000683392.1:n.4195G>C
ENST00000683712.1:n.1853G>C
ENST00000683900.1:n.3348G>C
ENST00000684062.1:n.2114G>C
ENST00000684579.1:n.3294G>C
ENST00000684679.1:n.675G>C
ENST00000341012.12:c.1286G>C	ENSP00000343034.7:p.Ser429Thr
ENST00000372220.5:c.317G>C	ENSP00000361294.5:p.Ser106Thr
ENST00000372228.9:c.1514G>C	ENSP00000361302.3:p.Ser505Thr
ENST00000402686.8:c.1448G>C MANE Select	ENSP00000385797.4:p.Ser483Thr
ENST00000676640.1:c.1448G>C	ENSP00000503281.1:p.Ser483Thr
ENST00000676803.1:c.623G>C	ENSP00000503093.1:p.Ser208Thr
ENST00000676835.1:c.*663G>C	ENSP00000502911.1:n.*663G>C
ENST00000677029.1:c.992G>C	ENSP00000502936.1:p.Ser331Thr
ENST00000677099.1:c.*1158G>C	ENSP00000504553.1:n.*1158G>C
ENST00000677216.1:c.1097G>C	ENSP00000503772.1:p.Ser366Thr
ENST00000677221.1:n.473G>C
ENST00000677295.1:c.*825G>C	ENSP00000504346.1:n.*825G>C
ENST00000677444.1:c.1393G>C
ENST00000677586.1:n.929G>C
ENST00000677626.1:c.1097G>C	ENSP00000503552.1:p.Ser366Thr
ENST00000677677.1:n.1408G>C
ENST00000677853.1:c.*456G>C	ENSP00000503488.1:n.*456G>C
ENST00000678202.1:n.607G>C
ENST00000678264.1:c.*825G>C	ENSP00000503157.1:n.*825G>C
ENST00000678303.1:c.1358G>C	ENSP00000503696.1:p.Ser453Thr
ENST00000678366.1:c.*1697G>C	ENSP00000504353.1:n.*1697G>C
ENST00000678546.1:c.*1393G>C	ENSP00000503062.1:n.*1393G>C
ENST00000678548.1:c.*1520G>C	ENSP00000503934.1:n.*1520G>C
ENST00000678626.1:n.1284G>C
ENST00000678733.1:c.529G>C
ENST00000678739.1:c.*1774G>C	ENSP00000503806.1:n.*1774G>C
ENST00000678833.1:c.*895G>C	ENSP00000503893.1:n.*895G>C
ENST00000679023.1:c.1286G>C	ENSP00000503718.1:p.Ser429Thr
ENST00000679076.1:c.1067G>C
ENST00000679111.1:c.*204G>C	ENSP00000504257.1:n.*204G>C
ENST00000679189.1:c.1097G>C	ENSP00000503356.1:p.Ser366Thr
ENST00000341012.11:c.1286G>C	ENSP00000343034.7:p.Ser429Thr
ENST00000372220.4:c.311G>C	ENSP00000361294.4:p.Ser104Thr
ENST00000372228.7:c.1514G>C	ENSP00000361302.3:p.Ser505Thr
ENST00000402686.7:c.1448G>C	ENSP00000385797.3:p.Ser483Thr
ENST00000404875.6:c.1097G>C	ENSP00000384531.2:p.Ser366Thr
ENST00000423007.5:c.1448G>C	ENSP00000404119.1:p.Ser483Thr
ENST00000467848.1:n.152G>C
ENST00000485278.5:n.2003G>C
NM_001077365.1:c.1448G>C	NP_001070833.1:p.Ser483Thr
NM_001077366.1:c.1286G>C	NP_001070834.1:p.Ser429Thr
NM_001136113.1:c.1448G>C	NP_001129585.1:p.Ser483Thr
NM_001136114.1:c.1097G>C	NP_001129586.1:p.Ser366Thr
NM_007171.3:c.1514G>C	NP_009102.3:p.Ser505Thr
XM_005272156.1:c.1514G>C	XP_005272213.1:p.Ser505Thr
XM_005272158.1:c.1352G>C	XP_005272215.1:p.Ser451Thr
XM_005272159.1:c.1163G>C	XP_005272216.1:p.Ser388Thr
XM_005272162.1:c.317G>C	XP_005272219.1:p.Ser106Thr
XM_006716932.1:c.1163G>C	XP_006716995.1:p.Ser388Thr
XM_011518140.1:c.1367G>C	XP_011516442.1:p.Ser456Thr
XM_011518141.1:c.1301G>C	XP_011516443.1:p.Ser434Thr
XM_011518142.1:c.1205G>C	XP_011516444.1:p.Ser402Thr
XM_011518143.1:c.1199G>C	XP_011516445.1:p.Ser400Thr
XM_011518145.1:c.1058G>C	XP_011516447.1:p.Ser353Thr
XM_011518147.1:c.386G>C	XP_011516449.1:p.Ser129Thr
XR_929703.1:n.1690G>C
NM_001353193.1:c.1514G>C	NP_001340122.1:p.Ser505Thr
NM_001353194.1:c.1286G>C	NP_001340123.1:p.Ser429Thr
NM_001353195.1:c.1097G>C	NP_001340124.1:p.Ser366Thr
NM_001353196.1:c.1358G>C	NP_001340125.1:p.Ser453Thr
NM_001353197.1:c.1352G>C	NP_001340126.1:p.Ser451Thr
NM_001353198.1:c.1352G>C	NP_001340127.1:p.Ser451Thr
NM_001353199.1:c.1163G>C	NP_001340128.1:p.Ser388Thr
NM_001353200.1:c.992G>C	NP_001340129.1:p.Ser331Thr
NR_148391.1:n.1498G>C
NR_148392.1:n.1716G>C
NR_148393.1:n.1637G>C
NR_148394.1:n.1391G>C
NR_148395.1:n.1789G>C
NR_148396.1:n.1423G>C
NR_148397.1:n.1548G>C
NR_148398.1:n.1503G>C
NR_148399.1:n.2029G>C
NR_148400.1:n.1628G>C
XM_005272162.3:c.317G>C	XP_005272219.1:p.Ser106Thr
XM_006716932.2:c.1163G>C	XP_006716995.1:p.Ser388Thr
XM_011518140.2:c.1367G>C	XP_011516442.1:p.Ser456Thr
XM_011518141.2:c.1301G>C	XP_011516443.1:p.Ser434Thr
XM_011518142.2:c.1205G>C	XP_011516444.1:p.Ser402Thr
XM_011518143.2:c.1199G>C	XP_011516445.1:p.Ser400Thr
XM_011518145.2:c.1058G>C	XP_011516447.1:p.Ser353Thr
XM_017014205.2:c.317G>C	XP_016869694.1:p.Ser106Thr
XM_024447380.1:c.317G>C	XP_024303148.1:p.Ser106Thr
XM_024447381.1:c.623G>C	XP_024303149.1:p.Ser208Thr
XM_024447382.1:c.317G>C	XP_024303150.1:p.Ser106Thr
XR_001746160.2:n.1618G>C
XR_001746162.2:n.1823G>C
XR_001746164.1:n.1540G>C
XR_001746166.2:n.1835G>C
NM_001077365.2:c.1448G>C MANE Select	NP_001070833.1:p.Ser483Thr
NM_001077366.2:c.1286G>C	NP_001070834.1:p.Ser429Thr
NM_001136113.2:c.1448G>C	NP_001129585.1:p.Ser483Thr
NM_001136114.2:c.1097G>C	NP_001129586.1:p.Ser366Thr
NM_001353193.2:c.1514G>C	NP_001340122.2:p.Ser505Thr
NM_001353194.2:c.1286G>C	NP_001340123.1:p.Ser429Thr
NM_001353195.2:c.1097G>C	NP_001340124.1:p.Ser366Thr
NM_001353196.2:c.1358G>C	NP_001340125.1:p.Ser453Thr
NM_001353197.2:c.1352G>C	NP_001340126.2:p.Ser451Thr
NM_001353198.2:c.1352G>C	NP_001340127.2:p.Ser451Thr
NM_001353199.2:c.1163G>C	NP_001340128.2:p.Ser388Thr
NM_001353200.2:c.992G>C	NP_001340129.1:p.Ser331Thr
NM_001374689.1:c.1436G>C	NP_001361618.1:p.Ser479Thr
NM_001374690.1:c.1365+382G>C	NP_001361619.1:n.1365+382G>C
NM_001374691.1:c.1097G>C	NP_001361620.1:p.Ser366Thr
NM_001374692.1:c.1097G>C	NP_001361621.1:p.Ser366Thr
NM_001374693.1:c.1097G>C	NP_001361622.1:p.Ser366Thr
NM_001374695.1:c.1058G>C	NP_001361624.1:p.Ser353Thr
NM_007171.4:c.1514G>C	NP_009102.4:p.Ser505Thr
NR_148391.2:n.1482G>C
NR_148392.2:n.1700G>C
NR_148393.2:n.1621G>C
NR_148394.2:n.1375G>C
NR_148395.2:n.1773G>C
NR_148396.2:n.1407G>C
NR_148397.2:n.1532G>C
NR_148398.2:n.1487G>C
NR_148399.2:n.2013G>C
NR_148400.2:n.1612G>C