Canonical Allele Identifier: CA375308966

Gene: POMT1

Linked Data

• ClinVar Variation Id: 1699978
• ClinVar RCV Id: RCV002273918
• dbSNP Id: rs2131683729
• MyVariant Identifiers: chr9:g.134387525T>C (hg19) ; chr9:g.131512138T>C (hg38)
• MutSpliceDB: CA375308966

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131512138T>C , CM000671.2:g.131512138T>C	GRCh38
NC_000009.11:g.134387525T>C , CM000671.1:g.134387525T>C	GRCh37
NC_000009.10:g.133377346T>C	NCBI36
NG_008896.1:g.14237T>C
NG_008896.2:g.14237T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.920+2T>C	ENSP00000343034.7:n.920+2T>C
ENST00000404875.7:n.1622+2T>C
ENST00000423007.6:c.1139+2T>C	ENSP00000404119.2:n.1139+2T>C
ENST00000677295.2:c.*1426+2T>C	ENSP00000504346.2:n.*1426+2T>C
ENST00000678264.2:c.*1265+2T>C	ENSP00000503157.2:n.*1265+2T>C
ENST00000678942.2:c.*635+2T>C	ENSP00000504690.2:n.*635+2T>C
ENST00000682070.1:n.1547+2T>C
ENST00000682813.1:n.1347+2T>C
ENST00000683392.1:n.3829+2T>C
ENST00000683712.1:n.1487+2T>C
ENST00000683900.1:n.2982+2T>C
ENST00000684062.1:n.1748+2T>C
ENST00000684579.1:n.2928+2T>C
ENST00000341012.12:c.920+2T>C	ENSP00000343034.7:n.920+2T>C
ENST00000372220.5:c.-50+2T>C	ENSP00000361294.5:n.-50+2T>C
ENST00000372228.9:c.1148+2T>C	ENSP00000361302.3:n.1148+2T>C
ENST00000402686.8:c.1082+2T>C MANE Select	ENSP00000385797.4:n.1082+2T>C
ENST00000676640.1:c.1082+2T>C	ENSP00000503281.1:n.1082+2T>C
ENST00000676803.1:c.257+2T>C	ENSP00000503093.1:n.257+2T>C
ENST00000676835.1:c.*297+2T>C	ENSP00000502911.1:n.*297+2T>C
ENST00000677029.1:c.626+2T>C	ENSP00000502936.1:n.626+2T>C
ENST00000677099.1:c.*792+2T>C	ENSP00000504553.1:n.*792+2T>C
ENST00000677216.1:c.731+2T>C	ENSP00000503772.1:n.731+2T>C
ENST00000677293.1:c.257+2T>C	ENSP00000504278.1:n.257+2T>C
ENST00000677295.1:c.*459+2T>C	ENSP00000504346.1:n.*459+2T>C
ENST00000677444.1:c.888+2T>C
ENST00000677586.1:n.563+2T>C
ENST00000677626.1:c.824+671T>C	ENSP00000503552.1:n.824+671T>C
ENST00000677677.1:n.1042+2T>C
ENST00000677853.1:c.*90+2T>C	ENSP00000503488.1:n.*90+2T>C
ENST00000677944.1:c.344+2T>C
ENST00000678264.1:c.*459+2T>C	ENSP00000503157.1:n.*459+2T>C
ENST00000678303.1:c.992+2T>C	ENSP00000503696.1:n.992+2T>C
ENST00000678366.1:c.*1331+2T>C	ENSP00000504353.1:n.*1331+2T>C
ENST00000678546.1:c.*1027+2T>C	ENSP00000503062.1:n.*1027+2T>C
ENST00000678548.1:c.*1154+2T>C	ENSP00000503934.1:n.*1154+2T>C
ENST00000678626.1:n.779+2T>C
ENST00000678733.1:c.256+2T>C
ENST00000678739.1:c.*1408+2T>C	ENSP00000503806.1:n.*1408+2T>C
ENST00000678795.1:n.169+2T>C
ENST00000678833.1:c.*529+2T>C	ENSP00000503893.1:n.*529+2T>C
ENST00000678942.1:c.262+2T>C	ENSP00000504690.1:n.262+2T>C
ENST00000679023.1:c.920+2T>C	ENSP00000503718.1:n.920+2T>C
ENST00000679073.1:c.460+2T>C	ENSP00000504356.1:n.460+2T>C
ENST00000679076.1:c.701+2T>C
ENST00000679111.1:c.1082+2T>C	ENSP00000504257.1:n.1082+2T>C
ENST00000679189.1:c.731+2T>C	ENSP00000503356.1:n.731+2T>C
ENST00000341012.11:c.920+2T>C	ENSP00000343034.7:n.920+2T>C
ENST00000372228.7:c.1148+2T>C	ENSP00000361302.3:n.1148+2T>C
ENST00000402686.7:c.1082+2T>C	ENSP00000385797.3:n.1082+2T>C
ENST00000404875.6:c.731+2T>C	ENSP00000384531.2:n.731+2T>C
ENST00000423007.5:c.1082+2T>C	ENSP00000404119.1:n.1082+2T>C
ENST00000441334.5:c.797+2T>C	ENSP00000395060.1:n.797+2T>C
ENST00000462375.5:n.908+2T>C
ENST00000485278.5:n.1637+2T>C
NM_001077365.1:c.1082+2T>C	NP_001070833.1:n.1082+2T>C
NM_001077366.1:c.920+2T>C	NP_001070834.1:n.920+2T>C
NM_001136113.1:c.1082+2T>C	NP_001129585.1:n.1082+2T>C
NM_001136114.1:c.731+2T>C	NP_001129586.1:n.731+2T>C
NM_007171.3:c.1148+2T>C	NP_009102.3:n.1148+2T>C
XM_005272156.1:c.1148+2T>C	XP_005272213.1:n.1148+2T>C
XM_005272158.1:c.986+2T>C	XP_005272215.1:n.986+2T>C
XM_005272159.1:c.797+2T>C	XP_005272216.1:n.797+2T>C
XM_005272162.1:c.-50+2T>C	XP_005272219.1:n.-50+2T>C
XM_006716932.1:c.797+2T>C	XP_006716995.1:n.797+2T>C
XM_011518140.1:c.1001+2T>C	XP_011516442.1:n.1001+2T>C
XM_011518141.1:c.935+2T>C	XP_011516443.1:n.935+2T>C
XM_011518142.1:c.839+2T>C	XP_011516444.1:n.839+2T>C
XM_011518143.1:c.833+2T>C	XP_011516445.1:n.833+2T>C
XM_011518144.1:c.1148+2T>C	XP_011516446.1:n.1148+2T>C
XM_011518145.1:c.692+2T>C	XP_011516447.1:n.692+2T>C
XM_011518146.1:c.833+2T>C	XP_011516448.1:n.833+2T>C
XR_929703.1:n.1324+2T>C
NM_001353193.1:c.1148+2T>C	NP_001340122.1:n.1148+2T>C
NM_001353194.1:c.920+2T>C	NP_001340123.1:n.920+2T>C
NM_001353195.1:c.731+2T>C	NP_001340124.1:n.731+2T>C
NM_001353196.1:c.992+2T>C	NP_001340125.1:n.992+2T>C
NM_001353197.1:c.986+2T>C	NP_001340126.1:n.986+2T>C
NM_001353198.1:c.986+2T>C	NP_001340127.1:n.986+2T>C
NM_001353199.1:c.797+2T>C	NP_001340128.1:n.797+2T>C
NM_001353200.1:c.626+2T>C	NP_001340129.1:n.626+2T>C
NR_148391.1:n.1132+2T>C
NR_148392.1:n.1350+2T>C
NR_148393.1:n.1132+2T>C
NR_148394.1:n.1025+2T>C
NR_148395.1:n.1284+2T>C
NR_148396.1:n.918+2T>C
NR_148397.1:n.1182+2T>C
NR_148398.1:n.1137+2T>C
NR_148399.1:n.1524+2T>C
NR_148400.1:n.1123+2T>C
XM_005272162.3:c.-50+2T>C	XP_005272219.1:n.-50+2T>C
XM_006716932.2:c.797+2T>C	XP_006716995.1:n.797+2T>C
XM_011518140.2:c.1001+2T>C	XP_011516442.1:n.1001+2T>C
XM_011518141.2:c.935+2T>C	XP_011516443.1:n.935+2T>C
XM_011518142.2:c.839+2T>C	XP_011516444.1:n.839+2T>C
XM_011518143.2:c.833+2T>C	XP_011516445.1:n.833+2T>C
XM_011518145.2:c.692+2T>C	XP_011516447.1:n.692+2T>C
XM_017014205.2:c.-50+2T>C	XP_016869694.1:n.-50+2T>C
XM_024447380.1:c.-50+2T>C	XP_024303148.1:n.-50+2T>C
XM_024447381.1:c.257+2T>C	XP_024303149.1:n.257+2T>C
XM_024447382.1:c.-50+2T>C	XP_024303150.1:n.-50+2T>C
XR_001746160.2:n.1252+2T>C
XR_001746162.2:n.1318+2T>C
XR_001746164.1:n.1035+2T>C
XR_001746166.2:n.1469+2T>C
NM_001077365.2:c.1082+2T>C MANE Select	NP_001070833.1:n.1082+2T>C
NM_001077366.2:c.920+2T>C	NP_001070834.1:n.920+2T>C
NM_001136113.2:c.1082+2T>C	NP_001129585.1:n.1082+2T>C
NM_001136114.2:c.731+2T>C	NP_001129586.1:n.731+2T>C
NM_001353193.2:c.1148+2T>C	NP_001340122.2:n.1148+2T>C
NM_001353194.2:c.920+2T>C	NP_001340123.1:n.920+2T>C
NM_001353195.2:c.731+2T>C	NP_001340124.1:n.731+2T>C
NM_001353196.2:c.992+2T>C	NP_001340125.1:n.992+2T>C
NM_001353197.2:c.986+2T>C	NP_001340126.2:n.986+2T>C
NM_001353198.2:c.986+2T>C	NP_001340127.2:n.986+2T>C
NM_001353199.2:c.797+2T>C	NP_001340128.2:n.797+2T>C
NM_001353200.2:c.626+2T>C	NP_001340129.1:n.626+2T>C
NM_001374689.1:c.1070+2T>C	NP_001361618.1:n.1070+2T>C
NM_001374690.1:c.1082+2T>C	NP_001361619.1:n.1082+2T>C
NM_001374691.1:c.731+2T>C	NP_001361620.1:n.731+2T>C
NM_001374692.1:c.731+2T>C	NP_001361621.1:n.731+2T>C
NM_001374693.1:c.824+671T>C	NP_001361622.1:n.824+671T>C
NM_001374695.1:c.692+2T>C	NP_001361624.1:n.692+2T>C
NM_007171.4:c.1148+2T>C	NP_009102.4:n.1148+2T>C
NR_148391.2:n.1116+2T>C
NR_148392.2:n.1334+2T>C
NR_148393.2:n.1116+2T>C
NR_148394.2:n.1009+2T>C
NR_148395.2:n.1268+2T>C
NR_148396.2:n.902+2T>C
NR_148397.2:n.1166+2T>C
NR_148398.2:n.1121+2T>C
NR_148399.2:n.1508+2T>C
NR_148400.2:n.1107+2T>C