Canonical Allele Identifier: CA5293351

Gene: POMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131509888G>C , CM000671.2:g.131509888G>C	GRCh38
NC_000009.11:g.134385275G>C , CM000671.1:g.134385275G>C	GRCh37
NC_000009.10:g.133375096G>C	NCBI36
NG_008896.1:g.11987G>C
NG_008896.2:g.11987G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001077365.2:c.606-15G>C MANE Select	NP_001070833.1:n.606-15G>C
ENST00000402686.8:c.606-15G>C MANE Select	ENSP00000385797.4:n.606-15G>C
NM_001077365.1:c.606-15G>C	NP_001070833.1:n.606-15G>C
NM_001077366.1:c.444-15G>C	NP_001070834.1:n.444-15G>C
NM_001077366.2:c.444-15G>C	NP_001070834.1:n.444-15G>C
NM_001136113.1:c.606-15G>C	NP_001129585.1:n.606-15G>C
NM_001136113.2:c.606-15G>C	NP_001129585.1:n.606-15G>C
NM_001136114.1:c.255-15G>C	NP_001129586.1:n.255-15G>C
NM_001136114.2:c.255-15G>C	NP_001129586.1:n.255-15G>C
NM_001353193.1:c.606-15G>C	NP_001340122.1:n.606-15G>C
NM_001353193.2:c.606-15G>C	NP_001340122.2:n.606-15G>C
NM_001353194.1:c.444-15G>C	NP_001340123.1:n.444-15G>C
NM_001353194.2:c.444-15G>C	NP_001340123.1:n.444-15G>C
NM_001353195.1:c.255-15G>C	NP_001340124.1:n.255-15G>C
NM_001353195.2:c.255-15G>C	NP_001340124.1:n.255-15G>C
NM_001353196.1:c.516-15G>C	NP_001340125.1:n.516-15G>C
NM_001353196.2:c.516-15G>C	NP_001340125.1:n.516-15G>C
NM_001353197.1:c.444-15G>C	NP_001340126.1:n.444-15G>C
NM_001353197.2:c.444-15G>C	NP_001340126.2:n.444-15G>C
NM_001353198.1:c.444-15G>C	NP_001340127.1:n.444-15G>C
NM_001353198.2:c.444-15G>C	NP_001340127.2:n.444-15G>C
NM_001353199.1:c.255-15G>C	NP_001340128.1:n.255-15G>C
NM_001353199.2:c.255-15G>C	NP_001340128.2:n.255-15G>C
NM_001353200.1:c.150-15G>C	NP_001340129.1:n.150-15G>C
NM_001353200.2:c.150-15G>C	NP_001340129.1:n.150-15G>C
NM_001374689.1:c.444-15G>C	NP_001361618.1:n.444-15G>C
NM_001374690.1:c.606-15G>C	NP_001361619.1:n.606-15G>C
NM_001374691.1:c.255-15G>C	NP_001361620.1:n.255-15G>C
NM_001374692.1:c.255-15G>C	NP_001361621.1:n.255-15G>C
NM_001374693.1:c.444-15G>C	NP_001361622.1:n.444-15G>C
NM_001374695.1:c.150-15G>C	NP_001361624.1:n.150-15G>C
NM_007171.3:c.606-15G>C	NP_009102.3:n.606-15G>C
NM_007171.4:c.606-15G>C	NP_009102.4:n.606-15G>C
NR_148391.1:n.656-15G>C
NR_148391.2:n.640-15G>C
NR_148392.1:n.808-15G>C
NR_148392.2:n.792-15G>C
NR_148393.1:n.656-15G>C
NR_148393.2:n.640-15G>C
NR_148394.1:n.544-15G>C
NR_148394.2:n.528-15G>C
NR_148395.1:n.808-15G>C
NR_148395.2:n.792-15G>C
NR_148396.1:n.437-15G>C
NR_148396.2:n.421-15G>C
NR_148397.1:n.701-15G>C
NR_148397.2:n.685-15G>C
NR_148398.1:n.656-15G>C
NR_148398.2:n.640-15G>C
NR_148399.1:n.1048-15G>C
NR_148399.2:n.1032-15G>C
NR_148400.1:n.642-15G>C
NR_148400.2:n.626-15G>C
ENST00000341012.11:c.444-15G>C	ENSP00000343034.7:n.444-15G>C
ENST00000341012.12:c.444-15G>C	ENSP00000343034.7:n.444-15G>C
ENST00000341012.13:c.444-15G>C	ENSP00000343034.7:n.444-15G>C
ENST00000372220.5:c.-145-2153G>C	ENSP00000361294.5:n.-145-2153G>C
ENST00000372228.7:c.606-15G>C	ENSP00000361302.3:n.606-15G>C
ENST00000372228.9:c.606-15G>C	ENSP00000361302.3:n.606-15G>C
ENST00000402686.7:c.606-15G>C	ENSP00000385797.3:n.606-15G>C
ENST00000404875.6:c.255-15G>C	ENSP00000384531.2:n.255-15G>C
ENST00000404875.7:n.715-15G>C
ENST00000415075.5:c.189-469G>C	ENSP00000405149.1:n.189-469G>C
ENST00000415075.6:c.*250-469G>C	ENSP00000405149.2:n.*250-469G>C
ENST00000423007.5:c.606-15G>C	ENSP00000404119.1:n.606-15G>C
ENST00000423007.6:c.597-15G>C	ENSP00000404119.2:n.597-15G>C
ENST00000430619.1:c.255-15G>C	ENSP00000402083.1:n.255-15G>C
ENST00000430619.2:c.150-15G>C	ENSP00000402083.2:n.150-15G>C
ENST00000441334.5:c.255-15G>C	ENSP00000395060.1:n.255-15G>C
ENST00000448212.5:c.444-15G>C	ENSP00000403736.1:n.444-15G>C
ENST00000462375.5:n.164-15G>C
ENST00000462375.6:n.430-15G>C
ENST00000462375.7:n.113-15G>C
ENST00000676640.1:c.606-15G>C	ENSP00000503281.1:n.606-15G>C
ENST00000676803.1:c.-126-372G>C	ENSP00000503093.1:n.-126-372G>C
ENST00000676835.1:c.189-372G>C	ENSP00000502911.1:n.189-372G>C
ENST00000676915.1:c.459-15G>C	ENSP00000504628.1:n.459-15G>C
ENST00000677028.1:c.*53-15G>C	ENSP00000503896.1:n.*53-15G>C
ENST00000677029.1:c.150-15G>C	ENSP00000502936.1:n.150-15G>C
ENST00000677099.1:c.*316-15G>C	ENSP00000504553.1:n.*316-15G>C
ENST00000677216.1:c.255-15G>C	ENSP00000503772.1:n.255-15G>C
ENST00000677293.1:c.-29-469G>C	ENSP00000504278.1:n.-29-469G>C
ENST00000677295.1:c.444-15G>C	ENSP00000504346.1:n.444-15G>C
ENST00000677295.2:c.*682-15G>C	ENSP00000504346.2:n.*682-15G>C
ENST00000677444.1:c.149-15G>C
ENST00000677586.1:n.181-372G>C
ENST00000677626.1:c.444-15G>C	ENSP00000503552.1:n.444-15G>C
ENST00000677677.1:n.566-15G>C
ENST00000677729.1:c.*53-15G>C	ENSP00000503581.1:n.*53-15G>C
ENST00000677853.1:c.378-469G>C	ENSP00000503488.1:n.378-469G>C
ENST00000677944.1:c.59-469G>C
ENST00000678264.1:c.606-15G>C	ENSP00000503157.1:n.606-15G>C
ENST00000678264.2:c.*789-15G>C	ENSP00000503157.2:n.*789-15G>C
ENST00000678303.1:c.516-15G>C	ENSP00000503696.1:n.516-15G>C
ENST00000678366.1:c.*789-15G>C	ENSP00000504353.1:n.*789-15G>C
ENST00000678546.1:c.444-15G>C	ENSP00000503062.1:n.444-15G>C
ENST00000678548.1:c.*395G>C	ENSP00000503934.1:n.*395G>C
ENST00000678626.1:n.298-15G>C
ENST00000678693.1:n.289-15G>C
ENST00000678707.1:n.244-15G>C
ENST00000678739.1:c.*664-15G>C	ENSP00000503806.1:n.*664-15G>C
ENST00000678833.1:c.*53-15G>C	ENSP00000503893.1:n.*53-15G>C
ENST00000678942.2:c.301-15G>C	ENSP00000504690.2:n.301-15G>C
ENST00000679023.1:c.444-15G>C	ENSP00000503718.1:n.444-15G>C
ENST00000679076.1:c.317-15G>C
ENST00000679111.1:c.606-15G>C	ENSP00000504257.1:n.606-15G>C
ENST00000679189.1:c.255-15G>C	ENSP00000503356.1:n.255-15G>C
ENST00000682070.1:n.803-15G>C
ENST00000682813.1:n.608-15G>C
ENST00000683134.1:c.66+80G>C
ENST00000683392.1:n.3090-15G>C
ENST00000683712.1:n.743-15G>C
ENST00000683900.1:n.1670-15G>C
ENST00000684062.1:n.994G>C
ENST00000684579.1:n.2184-15G>C
XM_005272156.1:c.606-15G>C	XP_005272213.1:n.606-15G>C
XM_005272158.1:c.444-15G>C	XP_005272215.1:n.444-15G>C
XM_005272159.1:c.255-15G>C	XP_005272216.1:n.255-15G>C
XM_005272162.1:c.-794-15G>C	XP_005272219.1:n.-794-15G>C
XM_005272162.3:c.-794-15G>C	XP_005272219.1:n.-794-15G>C
XM_006716932.1:c.255-15G>C	XP_006716995.1:n.255-15G>C
XM_006716932.2:c.255-15G>C	XP_006716995.1:n.255-15G>C
XM_011518140.1:c.459-15G>C	XP_011516442.1:n.459-15G>C
XM_011518140.2:c.459-15G>C	XP_011516442.1:n.459-15G>C
XM_011518141.1:c.459-15G>C	XP_011516443.1:n.459-15G>C
XM_011518141.2:c.459-15G>C	XP_011516443.1:n.459-15G>C
XM_011518142.1:c.297-15G>C	XP_011516444.1:n.297-15G>C
XM_011518142.2:c.297-15G>C	XP_011516444.1:n.297-15G>C
XM_011518143.1:c.352-15G>C	XP_011516445.1:n.352-15G>C
XM_011518143.2:c.352-15G>C	XP_011516445.1:n.352-15G>C
XM_011518144.1:c.606-15G>C	XP_011516446.1:n.606-15G>C
XM_011518145.1:c.150-15G>C	XP_011516447.1:n.150-15G>C
XM_011518145.2:c.150-15G>C	XP_011516447.1:n.150-15G>C
XM_011518146.1:c.352-15G>C	XP_011516448.1:n.352-15G>C
XM_017014205.2:c.-597-15G>C	XP_016869694.1:n.-597-15G>C
XM_024447380.1:c.-531-15G>C	XP_024303148.1:n.-531-15G>C
XM_024447381.1:c.-483-15G>C	XP_024303149.1:n.-483-15G>C
XM_024447382.1:c.-794-15G>C	XP_024303150.1:n.-794-15G>C
XR_001746160.2:n.776-15G>C
XR_001746162.2:n.776-15G>C
XR_001746164.1:n.554-15G>C
XR_001746166.2:n.730-15G>C
XR_929703.1:n.782-15G>C