Canonical Allele Identifier: CA375309918

Gene: POMT1

Linked Data

• gnomAD v4: 9-131515465-G-C
• MyVariant Identifiers: chr9:g.134390852G>C (hg19) ; chr9:g.131515465G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131515465G>C , CM000671.2:g.131515465G>C	GRCh38
NC_000009.11:g.134390852G>C , CM000671.1:g.134390852G>C	GRCh37
NC_000009.10:g.133380673G>C	NCBI36
NG_008896.1:g.17564G>C
NG_008896.2:g.17564G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1053G>C	ENSP00000343034.7:p.Glu351Asp
ENST00000404875.7:n.1755G>C
ENST00000423007.6:c.1272G>C	ENSP00000404119.2:p.Glu424Asp
ENST00000677295.2:c.*1559G>C	ENSP00000504346.2:n.*1559G>C
ENST00000678264.2:c.*1398G>C	ENSP00000503157.2:n.*1398G>C
ENST00000682070.1:n.1680G>C
ENST00000682539.1:c.40G>C
ENST00000682813.1:n.1480G>C
ENST00000683392.1:n.3962G>C
ENST00000683712.1:n.1620G>C
ENST00000683900.1:n.3115G>C
ENST00000684062.1:n.1881G>C
ENST00000684579.1:n.3061G>C
ENST00000341012.12:c.1053G>C	ENSP00000343034.7:p.Glu351Asp
ENST00000372220.5:c.84G>C	ENSP00000361294.5:p.Glu28Asp
ENST00000372228.9:c.1281G>C	ENSP00000361302.3:p.Glu427Asp
ENST00000402686.8:c.1215G>C MANE Select	ENSP00000385797.4:p.Glu405Asp
ENST00000676640.1:c.1215G>C	ENSP00000503281.1:p.Glu405Asp
ENST00000676803.1:c.390G>C	ENSP00000503093.1:p.Glu130Asp
ENST00000676835.1:c.*430G>C	ENSP00000502911.1:n.*430G>C
ENST00000677029.1:c.759G>C	ENSP00000502936.1:p.Glu253Asp
ENST00000677099.1:c.*925G>C	ENSP00000504553.1:n.*925G>C
ENST00000677216.1:c.864G>C	ENSP00000503772.1:p.Glu288Asp
ENST00000677295.1:c.*592G>C	ENSP00000504346.1:n.*592G>C
ENST00000677444.1:c.1021G>C
ENST00000677586.1:n.696G>C
ENST00000677626.1:c.864G>C	ENSP00000503552.1:p.Glu288Asp
ENST00000677677.1:n.1175G>C
ENST00000677853.1:c.*223G>C	ENSP00000503488.1:n.*223G>C
ENST00000677944.1:c.477G>C
ENST00000678264.1:c.*592G>C	ENSP00000503157.1:n.*592G>C
ENST00000678303.1:c.1125G>C	ENSP00000503696.1:p.Glu375Asp
ENST00000678366.1:c.*1464G>C	ENSP00000504353.1:n.*1464G>C
ENST00000678546.1:c.*1160G>C	ENSP00000503062.1:n.*1160G>C
ENST00000678548.1:c.*1287G>C	ENSP00000503934.1:n.*1287G>C
ENST00000678626.1:n.912G>C
ENST00000678733.1:c.296G>C
ENST00000678739.1:c.*1541G>C	ENSP00000503806.1:n.*1541G>C
ENST00000678795.1:n.302G>C
ENST00000678833.1:c.*662G>C	ENSP00000503893.1:n.*662G>C
ENST00000678942.1:c.395G>C	ENSP00000504690.1:n.395G>C
ENST00000679023.1:c.1053G>C	ENSP00000503718.1:p.Glu351Asp
ENST00000679076.1:c.834G>C
ENST00000679111.1:c.1215G>C	ENSP00000504257.1:p.Glu405Asp
ENST00000679189.1:c.864G>C	ENSP00000503356.1:p.Glu288Asp
ENST00000341012.11:c.1053G>C	ENSP00000343034.7:p.Glu351Asp
ENST00000372228.7:c.1281G>C	ENSP00000361302.3:p.Glu427Asp
ENST00000402686.7:c.1215G>C	ENSP00000385797.3:p.Glu405Asp
ENST00000404875.6:c.864G>C	ENSP00000384531.2:p.Glu288Asp
ENST00000423007.5:c.1215G>C	ENSP00000404119.1:p.Glu405Asp
ENST00000485278.5:n.1770G>C
NM_001077365.1:c.1215G>C	NP_001070833.1:p.Glu405Asp
NM_001077366.1:c.1053G>C	NP_001070834.1:p.Glu351Asp
NM_001136113.1:c.1215G>C	NP_001129585.1:p.Glu405Asp
NM_001136114.1:c.864G>C	NP_001129586.1:p.Glu288Asp
NM_007171.3:c.1281G>C	NP_009102.3:p.Glu427Asp
XM_005272156.1:c.1281G>C	XP_005272213.1:p.Glu427Asp
XM_005272158.1:c.1119G>C	XP_005272215.1:p.Glu373Asp
XM_005272159.1:c.930G>C	XP_005272216.1:p.Glu310Asp
XM_005272162.1:c.84G>C	XP_005272219.1:p.Glu28Asp
XM_006716932.1:c.930G>C	XP_006716995.1:p.Glu310Asp
XM_011518140.1:c.1134G>C	XP_011516442.1:p.Glu378Asp
XM_011518141.1:c.1068G>C	XP_011516443.1:p.Glu356Asp
XM_011518142.1:c.972G>C	XP_011516444.1:p.Glu324Asp
XM_011518143.1:c.966G>C	XP_011516445.1:p.Glu322Asp
XM_011518144.1:c.1281G>C	XP_011516446.1:p.Glu427Asp
XM_011518145.1:c.825G>C	XP_011516447.1:p.Glu275Asp
XM_011518146.1:c.966G>C	XP_011516448.1:p.Glu322Asp
XR_929703.1:n.1457G>C
NM_001353193.1:c.1281G>C	NP_001340122.1:p.Glu427Asp
NM_001353194.1:c.1053G>C	NP_001340123.1:p.Glu351Asp
NM_001353195.1:c.864G>C	NP_001340124.1:p.Glu288Asp
NM_001353196.1:c.1125G>C	NP_001340125.1:p.Glu375Asp
NM_001353197.1:c.1119G>C	NP_001340126.1:p.Glu373Asp
NM_001353198.1:c.1119G>C	NP_001340127.1:p.Glu373Asp
NM_001353199.1:c.930G>C	NP_001340128.1:p.Glu310Asp
NM_001353200.1:c.759G>C	NP_001340129.1:p.Glu253Asp
NR_148391.1:n.1265G>C
NR_148392.1:n.1483G>C
NR_148393.1:n.1265G>C
NR_148394.1:n.1158G>C
NR_148395.1:n.1417G>C
NR_148396.1:n.1051G>C
NR_148397.1:n.1315G>C
NR_148398.1:n.1270G>C
NR_148399.1:n.1657G>C
NR_148400.1:n.1256G>C
XM_005272162.3:c.84G>C	XP_005272219.1:p.Glu28Asp
XM_006716932.2:c.930G>C	XP_006716995.1:p.Glu310Asp
XM_011518140.2:c.1134G>C	XP_011516442.1:p.Glu378Asp
XM_011518141.2:c.1068G>C	XP_011516443.1:p.Glu356Asp
XM_011518142.2:c.972G>C	XP_011516444.1:p.Glu324Asp
XM_011518143.2:c.966G>C	XP_011516445.1:p.Glu322Asp
XM_011518145.2:c.825G>C	XP_011516447.1:p.Glu275Asp
XM_017014205.2:c.84G>C	XP_016869694.1:p.Glu28Asp
XM_024447380.1:c.84G>C	XP_024303148.1:p.Glu28Asp
XM_024447381.1:c.390G>C	XP_024303149.1:p.Glu130Asp
XM_024447382.1:c.84G>C	XP_024303150.1:p.Glu28Asp
XR_001746160.2:n.1385G>C
XR_001746162.2:n.1451G>C
XR_001746164.1:n.1168G>C
XR_001746166.2:n.1602G>C
NM_001077365.2:c.1215G>C MANE Select	NP_001070833.1:p.Glu405Asp
NM_001077366.2:c.1053G>C	NP_001070834.1:p.Glu351Asp
NM_001136113.2:c.1215G>C	NP_001129585.1:p.Glu405Asp
NM_001136114.2:c.864G>C	NP_001129586.1:p.Glu288Asp
NM_001353193.2:c.1281G>C	NP_001340122.2:p.Glu427Asp
NM_001353194.2:c.1053G>C	NP_001340123.1:p.Glu351Asp
NM_001353195.2:c.864G>C	NP_001340124.1:p.Glu288Asp
NM_001353196.2:c.1125G>C	NP_001340125.1:p.Glu375Asp
NM_001353197.2:c.1119G>C	NP_001340126.2:p.Glu373Asp
NM_001353198.2:c.1119G>C	NP_001340127.2:p.Glu373Asp
NM_001353199.2:c.930G>C	NP_001340128.2:p.Glu310Asp
NM_001353200.2:c.759G>C	NP_001340129.1:p.Glu253Asp
NM_001374689.1:c.1203G>C	NP_001361618.1:p.Glu401Asp
NM_001374690.1:c.1215G>C	NP_001361619.1:p.Glu405Asp
NM_001374691.1:c.864G>C	NP_001361620.1:p.Glu288Asp
NM_001374692.1:c.864G>C	NP_001361621.1:p.Glu288Asp
NM_001374693.1:c.864G>C	NP_001361622.1:p.Glu288Asp
NM_001374695.1:c.825G>C	NP_001361624.1:p.Glu275Asp
NM_007171.4:c.1281G>C	NP_009102.4:p.Glu427Asp
NR_148391.2:n.1249G>C
NR_148392.2:n.1467G>C
NR_148393.2:n.1249G>C
NR_148394.2:n.1142G>C
NR_148395.2:n.1401G>C
NR_148396.2:n.1035G>C
NR_148397.2:n.1299G>C
NR_148398.2:n.1254G>C
NR_148399.2:n.1641G>C
NR_148400.2:n.1240G>C