Canonical Allele Identifier: CA5293225
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 391225
ClinVar RCV Id: RCV000442385 RCV001861627
dbSNP Id: rs367743923
ExAC: 9:134382750 T / C
gnomAD v2: 9-134382750-T-C
gnomAD v3: 9-131507363-T-C
gnomAD v4: 9-131507363-T-C
MyVariant Identifiers: chr9:g.134382750T>C (hg19) chr9:g.131507363T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131507363T>C , CM000671.2:g.131507363T>C GRCh38
NC_000009.11:g.134382750T>C , CM000671.1:g.134382750T>C GRCh37
NC_000009.10:g.133372571T>C NCBI36
NG_008896.1:g.9462T>C
NG_008896.2:g.9462T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000341012.13:c.119-5T>C ENSP00000343034.7:n.119-5T>C
ENST00000404875.7:n.390-5T>C
ENST00000423007.6:c.272-5T>C ENSP00000404119.2:n.272-5T>C
ENST00000677295.2:c.*357-5T>C ENSP00000504346.2:n.*357-5T>C
ENST00000678264.2:c.*464-5T>C ENSP00000503157.2:n.*464-5T>C
ENST00000678942.2:c.123-1548T>C ENSP00000504690.2:n.123-1548T>C
ENST00000682070.1:n.478-5T>C
ENST00000682813.1:n.283-5T>C
ENST00000683229.1:c.-29-1548T>C ENSP00000506964.1:n.-29-1548T>C
ENST00000683392.1:n.1364T>C
ENST00000683712.1:n.418-5T>C
ENST00000683900.1:n.1457-5T>C
ENST00000684579.1:n.463-5T>C
ENST00000341012.12:c.119-5T>C ENSP00000343034.7:n.119-5T>C
ENST00000372220.5:c.-146+4290T>C ENSP00000361294.5:n.-146+4290T>C
ENST00000372228.9:c.281-5T>C ENSP00000361302.3:n.281-5T>C
ENST00000402686.8:c.281-5T>C MANE Select ENSP00000385797.4:n.281-5T>C
ENST00000415075.6:c.174-5T>C ENSP00000405149.2:n.174-5T>C
ENST00000418774.6:c.212-5T>C ENSP00000390737.2:n.212-5T>C
ENST00000430619.2:c.-30+910T>C ENSP00000402083.2:n.-30+910T>C
ENST00000676640.1:c.281-5T>C ENSP00000503281.1:n.281-5T>C
ENST00000676803.1:c.-126-2897T>C ENSP00000503093.1:n.-126-2897T>C
ENST00000676835.1:c.-71-5T>C ENSP00000502911.1:n.-71-5T>C
ENST00000676915.1:c.280+910T>C ENSP00000504628.1:n.280+910T>C
ENST00000677028.1:c.119-5T>C ENSP00000503896.1:n.119-5T>C
ENST00000677029.1:c.-30+910T>C ENSP00000502936.1:n.-30+910T>C
ENST00000677099.1:c.123-5T>C ENSP00000504553.1:n.123-5T>C
ENST00000677167.1:c.281-5T>C ENSP00000503307.1:n.281-5T>C
ENST00000677216.1:c.-71-5T>C ENSP00000503772.1:n.-71-5T>C
ENST00000677293.1:c.-29-2994T>C ENSP00000504278.1:n.-29-2994T>C
ENST00000677295.1:c.119-5T>C ENSP00000504346.1:n.119-5T>C
ENST00000677586.1:n.180+910T>C
ENST00000677626.1:c.119-5T>C ENSP00000503552.1:n.119-5T>C
ENST00000677677.1:n.241-5T>C
ENST00000677729.1:c.281-5T>C ENSP00000503581.1:n.281-5T>C
ENST00000677853.1:c.119-5T>C ENSP00000503488.1:n.119-5T>C
ENST00000678264.1:c.281-5T>C ENSP00000503157.1:n.281-5T>C
ENST00000678303.1:c.186T>C ENSP00000503696.1:p.Phe62=
ENST00000678366.1:c.*464-5T>C ENSP00000504353.1:n.*464-5T>C
ENST00000678546.1:c.119-5T>C ENSP00000503062.1:n.119-5T>C
ENST00000678548.1:c.174-5T>C ENSP00000503934.1:n.174-5T>C
ENST00000678626.1:n.119+910T>C
ENST00000678707.1:n.177+910T>C
ENST00000678739.1:c.*339-5T>C ENSP00000503806.1:n.*339-5T>C
ENST00000678785.1:c.119-5T>C ENSP00000504231.1:n.119-5T>C
ENST00000678833.1:c.281-5T>C ENSP00000503893.1:n.281-5T>C
ENST00000679023.1:c.119-5T>C ENSP00000503718.1:n.119-5T>C
ENST00000679111.1:c.281-5T>C ENSP00000504257.1:n.281-5T>C
ENST00000679189.1:c.-71-5T>C ENSP00000503356.1:n.-71-5T>C
ENST00000679221.1:c.-71-5T>C ENSP00000504422.1:n.-71-5T>C
ENST00000341012.11:c.119-5T>C ENSP00000343034.7:n.119-5T>C
ENST00000372228.7:c.281-5T>C ENSP00000361302.3:n.281-5T>C
ENST00000402686.7:c.281-5T>C ENSP00000385797.3:n.281-5T>C
ENST00000404875.6:c.-71-5T>C ENSP00000384531.2:n.-71-5T>C
ENST00000415075.5:c.-71-5T>C ENSP00000405149.1:n.-71-5T>C
ENST00000418774.5:c.281-5T>C ENSP00000390737.1:n.281-5T>C
ENST00000423007.5:c.281-5T>C ENSP00000404119.1:n.281-5T>C
ENST00000430619.1:c.-71-5T>C ENSP00000402083.1:n.-71-5T>C
ENST00000441334.5:c.-71-5T>C ENSP00000395060.1:n.-71-5T>C
ENST00000448212.5:c.119-5T>C ENSP00000403736.1:n.119-5T>C
NM_001077365.1:c.281-5T>C NP_001070833.1:n.281-5T>C
NM_001077366.1:c.119-5T>C NP_001070834.1:n.119-5T>C
NM_001136113.1:c.281-5T>C NP_001129585.1:n.281-5T>C
NM_001136114.1:c.-71-5T>C NP_001129586.1:n.-71-5T>C
NM_007171.3:c.281-5T>C NP_009102.3:n.281-5T>C
XM_005272156.1:c.281-5T>C XP_005272213.1:n.281-5T>C
XM_005272158.1:c.119-5T>C XP_005272215.1:n.119-5T>C
XM_005272159.1:c.-71-5T>C XP_005272216.1:n.-71-5T>C
XM_005272162.1:c.-1119-5T>C XP_005272219.1:n.-1119-5T>C
XM_006716932.1:c.-71-5T>C XP_006716995.1:n.-71-5T>C
XM_011518140.1:c.280+910T>C XP_011516442.1:n.280+910T>C
XM_011518141.1:c.280+910T>C XP_011516443.1:n.280+910T>C
XM_011518142.1:c.118+910T>C XP_011516444.1:n.118+910T>C
XM_011518143.1:c.173+910T>C XP_011516445.1:n.173+910T>C
XM_011518144.1:c.281-5T>C XP_011516446.1:n.281-5T>C
XM_011518145.1:c.-30+910T>C XP_011516447.1:n.-30+910T>C
XM_011518146.1:c.173+910T>C XP_011516448.1:n.173+910T>C
XR_929703.1:n.457-5T>C
NM_001353193.1:c.281-5T>C NP_001340122.1:n.281-5T>C
NM_001353194.1:c.119-5T>C NP_001340123.1:n.119-5T>C
NM_001353195.1:c.-71-5T>C NP_001340124.1:n.-71-5T>C
NM_001353196.1:c.186T>C NP_001340125.1:p.Phe62=
NM_001353197.1:c.119-5T>C NP_001340126.1:n.119-5T>C
NM_001353198.1:c.119-5T>C NP_001340127.1:n.119-5T>C
NM_001353199.1:c.-71-5T>C NP_001340128.1:n.-71-5T>C
NM_001353200.1:c.-30+910T>C NP_001340129.1:n.-30+910T>C
NR_148391.1:n.331-5T>C
NR_148392.1:n.483-5T>C
NR_148393.1:n.331-5T>C
NR_148394.1:n.331-5T>C
NR_148395.1:n.483-5T>C
NR_148396.1:n.224-5T>C
NR_148397.1:n.376-5T>C
NR_148398.1:n.331-5T>C
NR_148399.1:n.723-5T>C
NR_148400.1:n.463+910T>C
XM_005272162.3:c.-1119-5T>C XP_005272219.1:n.-1119-5T>C
XM_006716932.2:c.-71-5T>C XP_006716995.1:n.-71-5T>C
XM_011518140.2:c.280+910T>C XP_011516442.1:n.280+910T>C
XM_011518141.2:c.280+910T>C XP_011516443.1:n.280+910T>C
XM_011518142.2:c.118+910T>C XP_011516444.1:n.118+910T>C
XM_011518143.2:c.173+910T>C XP_011516445.1:n.173+910T>C
XM_011518145.2:c.-30+910T>C XP_011516447.1:n.-30+910T>C
XM_017014205.2:c.-922-5T>C XP_016869694.1:n.-922-5T>C
XM_024447380.1:c.-710+910T>C XP_024303148.1:n.-710+910T>C
XM_024447381.1:c.-808-5T>C XP_024303149.1:n.-808-5T>C
XM_024447382.1:c.-2515-5T>C XP_024303150.1:n.-2515-5T>C
XR_001746160.2:n.451-5T>C
XR_001746162.2:n.451-5T>C
XR_001746164.1:n.375+910T>C
XR_001746166.2:n.405-5T>C
NM_001077365.2:c.281-5T>C MANE Select NP_001070833.1:n.281-5T>C
NM_001077366.2:c.119-5T>C NP_001070834.1:n.119-5T>C
NM_001136113.2:c.281-5T>C NP_001129585.1:n.281-5T>C
NM_001136114.2:c.-71-5T>C NP_001129586.1:n.-71-5T>C
NM_001353193.2:c.281-5T>C NP_001340122.2:n.281-5T>C
NM_001353194.2:c.119-5T>C NP_001340123.1:n.119-5T>C
NM_001353195.2:c.-71-5T>C NP_001340124.1:n.-71-5T>C
NM_001353196.2:c.186T>C NP_001340125.1:p.Phe62=
NM_001353197.2:c.119-5T>C NP_001340126.2:n.119-5T>C
NM_001353198.2:c.119-5T>C NP_001340127.2:n.119-5T>C
NM_001353199.2:c.-71-5T>C NP_001340128.2:n.-71-5T>C
NM_001353200.2:c.-30+910T>C NP_001340129.1:n.-30+910T>C
NM_001374689.1:c.119-5T>C NP_001361618.1:n.119-5T>C
NM_001374690.1:c.281-5T>C NP_001361619.1:n.281-5T>C
NM_001374691.1:c.-71-5T>C NP_001361620.1:n.-71-5T>C
NM_001374692.1:c.-71-5T>C NP_001361621.1:n.-71-5T>C
NM_001374693.1:c.119-5T>C NP_001361622.1:n.119-5T>C
NM_001374695.1:c.-29-1548T>C NP_001361624.1:n.-29-1548T>C
NM_007171.4:c.281-5T>C NP_009102.4:n.281-5T>C
NR_148391.2:n.315-5T>C
NR_148392.2:n.467-5T>C
NR_148393.2:n.315-5T>C
NR_148394.2:n.315-5T>C
NR_148395.2:n.467-5T>C
NR_148396.2:n.208-5T>C
NR_148397.2:n.360-5T>C
NR_148398.2:n.315-5T>C
NR_148399.2:n.707-5T>C
NR_148400.2:n.447+910T>C
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