Canonical Allele Identifier: CA200798652

Gene: POMT1

Linked Data

• dbSNP Id: rs544907569
• gnomAD v3: 9-131523255-A-G
• gnomAD v4: 9-131523255-A-G
• MyVariant Identifiers: chr9:g.134398642A>G (hg19) ; chr9:g.131523255A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523255A>G , CM000671.2:g.131523255A>G	GRCh38
NC_000009.11:g.134398642A>G , CM000671.1:g.134398642A>G	GRCh37
NC_000009.10:g.133388463A>G	NCBI36
NG_008896.1:g.25354A>G
NG_008896.2:g.25354A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.*149A>G	ENSP00000343034.7:n.*149A>G
ENST00000404875.7:n.2867A>G
ENST00000677295.2:c.*2671A>G	ENSP00000504346.2:n.*2671A>G
ENST00000678264.2:c.*2510A>G	ENSP00000503157.2:n.*2510A>G
ENST00000682070.1:n.2637A>G
ENST00000682639.1:c.239+85A>G
ENST00000682813.1:n.2724A>G
ENST00000683231.1:c.240-63A>G
ENST00000683392.1:n.4919A>G
ENST00000683900.1:n.4227A>G
ENST00000684062.1:n.2993A>G
ENST00000684399.1:c.239+85A>G
ENST00000684579.1:n.4173A>G
ENST00000341012.12:c.*149A>G	ENSP00000343034.7:n.*149A>G
ENST00000372220.5:c.*149A>G	ENSP00000361294.5:n.*149A>G
ENST00000372228.9:c.*149A>G	ENSP00000361302.3:n.*149A>G
ENST00000402686.8:c.*149A>G MANE Select	ENSP00000385797.4:n.*149A>G
ENST00000676640.1:c.*149A>G	ENSP00000503281.1:n.*149A>G
ENST00000676803.1:c.*149A>G	ENSP00000503093.1:n.*149A>G
ENST00000676835.1:c.*1542A>G	ENSP00000502911.1:n.*1542A>G
ENST00000677029.1:c.*149A>G	ENSP00000502936.1:n.*149A>G
ENST00000677099.1:c.*2037A>G	ENSP00000504553.1:n.*2037A>G
ENST00000677216.1:c.*149A>G	ENSP00000503772.1:n.*149A>G
ENST00000677295.1:c.*1549A>G	ENSP00000504346.1:n.*1549A>G
ENST00000677444.1:c.2272A>G
ENST00000677626.1:c.*149A>G	ENSP00000503552.1:n.*149A>G
ENST00000677853.1:c.*1335A>G	ENSP00000503488.1:n.*1335A>G
ENST00000678303.1:c.*149A>G	ENSP00000503696.1:n.*149A>G
ENST00000678366.1:c.*2576A>G	ENSP00000504353.1:n.*2576A>G
ENST00000678546.1:c.*2272A>G	ENSP00000503062.1:n.*2272A>G
ENST00000678548.1:c.*2466A>G	ENSP00000503934.1:n.*2466A>G
ENST00000678626.1:n.2163A>G
ENST00000678739.1:c.*2493A>G	ENSP00000503806.1:n.*2493A>G
ENST00000678833.1:c.*2079A>G	ENSP00000503893.1:n.*2079A>G
ENST00000679023.1:c.*64+85A>G	ENSP00000503718.1:n.*64+85A>G
ENST00000679076.1:c.1946A>G
ENST00000679111.1:c.*1083A>G	ENSP00000504257.1:n.*1083A>G
ENST00000679189.1:c.*149A>G	ENSP00000503356.1:n.*149A>G
ENST00000341012.11:c.*149A>G	ENSP00000343034.7:n.*149A>G
ENST00000372220.4:c.1190A>G	ENSP00000361294.4:n.1190A>G
ENST00000372228.7:c.*149A>G	ENSP00000361302.3:n.*149A>G
ENST00000402686.7:c.*149A>G	ENSP00000385797.3:n.*149A>G
ENST00000404875.6:c.*149A>G	ENSP00000384531.2:n.*149A>G
ENST00000423007.5:c.*149A>G	ENSP00000404119.1:n.*149A>G
ENST00000485278.5:n.2877A>G
NM_001077365.1:c.*149A>G	NP_001070833.1:n.*149A>G
NM_001077366.1:c.*149A>G	NP_001070834.1:n.*149A>G
NM_001136113.1:c.*149A>G	NP_001129585.1:n.*149A>G
NM_001136114.1:c.*149A>G	NP_001129586.1:n.*149A>G
NM_007171.3:c.*149A>G	NP_009102.3:n.*149A>G
XM_005272156.1:c.*149A>G	XP_005272213.1:n.*149A>G
XM_005272158.1:c.*149A>G	XP_005272215.1:n.*149A>G
XM_005272159.1:c.*149A>G	XP_005272216.1:n.*149A>G
XM_005272162.1:c.*149A>G	XP_005272219.1:n.*149A>G
XM_006716932.1:c.*149A>G	XP_006716995.1:n.*149A>G
XM_011518140.1:c.*149A>G	XP_011516442.1:n.*149A>G
XM_011518141.1:c.*149A>G	XP_011516443.1:n.*149A>G
XM_011518142.1:c.*149A>G	XP_011516444.1:n.*149A>G
XM_011518143.1:c.*149A>G	XP_011516445.1:n.*149A>G
XM_011518145.1:c.*149A>G	XP_011516447.1:n.*149A>G
XM_011518147.1:c.*149A>G	XP_011516449.1:n.*149A>G
XR_929703.1:n.2484+85A>G
NM_001353193.1:c.*149A>G	NP_001340122.1:n.*149A>G
NM_001353194.1:c.*149A>G	NP_001340123.1:n.*149A>G
NM_001353195.1:c.*149A>G	NP_001340124.1:n.*149A>G
NM_001353196.1:c.*149A>G	NP_001340125.1:n.*149A>G
NM_001353197.1:c.*149A>G	NP_001340126.1:n.*149A>G
NM_001353198.1:c.*149A>G	NP_001340127.1:n.*149A>G
NM_001353199.1:c.*149A>G	NP_001340128.1:n.*149A>G
NM_001353200.1:c.*149A>G	NP_001340129.1:n.*149A>G
NR_148391.1:n.2292+85A>G
NR_148392.1:n.2510+85A>G
NR_148393.1:n.2516A>G
NR_148394.1:n.2270A>G
NR_148395.1:n.2668A>G
NR_148396.1:n.2302A>G
NR_148397.1:n.2427A>G
NR_148398.1:n.2382A>G
NR_148399.1:n.2823+85A>G
NR_148400.1:n.2507A>G
XM_005272162.3:c.*149A>G	XP_005272219.1:n.*149A>G
XM_006716932.2:c.*149A>G	XP_006716995.1:n.*149A>G
XM_011518140.2:c.*149A>G	XP_011516442.1:n.*149A>G
XM_011518141.2:c.*149A>G	XP_011516443.1:n.*149A>G
XM_011518142.2:c.*149A>G	XP_011516444.1:n.*149A>G
XM_011518143.2:c.*149A>G	XP_011516445.1:n.*149A>G
XM_011518145.2:c.*149A>G	XP_011516447.1:n.*149A>G
XM_017014205.2:c.*149A>G	XP_016869694.1:n.*149A>G
XM_024447380.1:c.*149A>G	XP_024303148.1:n.*149A>G
XM_024447381.1:c.*149A>G	XP_024303149.1:n.*149A>G
XM_024447382.1:c.*149A>G	XP_024303150.1:n.*149A>G
XR_001746160.2:n.2412+85A>G
XR_001746162.2:n.2702A>G
XR_001746164.1:n.2419A>G
XR_001746166.2:n.2629+85A>G
NM_001077365.2:c.*149A>G MANE Select	NP_001070833.1:n.*149A>G
NM_001077366.2:c.*149A>G	NP_001070834.1:n.*149A>G
NM_001136113.2:c.*149A>G	NP_001129585.1:n.*149A>G
NM_001136114.2:c.*149A>G	NP_001129586.1:n.*149A>G
NM_001353193.2:c.*149A>G	NP_001340122.2:n.*149A>G
NM_001353194.2:c.*149A>G	NP_001340123.1:n.*149A>G
NM_001353195.2:c.*149A>G	NP_001340124.1:n.*149A>G
NM_001353196.2:c.*149A>G	NP_001340125.1:n.*149A>G
NM_001353197.2:c.*149A>G	NP_001340126.2:n.*149A>G
NM_001353198.2:c.*149A>G	NP_001340127.2:n.*149A>G
NM_001353199.2:c.*149A>G	NP_001340128.2:n.*149A>G
NM_001353200.2:c.*149A>G	NP_001340129.1:n.*149A>G
NM_001374689.1:c.*149A>G	NP_001361618.1:n.*149A>G
NM_001374690.1:c.*149A>G	NP_001361619.1:n.*149A>G
NM_001374691.1:c.*149A>G	NP_001361620.1:n.*149A>G
NM_001374692.1:c.*149A>G	NP_001361621.1:n.*149A>G
NM_001374693.1:c.*149A>G	NP_001361622.1:n.*149A>G
NM_001374695.1:c.*149A>G	NP_001361624.1:n.*149A>G
NM_007171.4:c.*149A>G	NP_009102.4:n.*149A>G
NR_148391.2:n.2276+85A>G
NR_148392.2:n.2494+85A>G
NR_148393.2:n.2500A>G
NR_148394.2:n.2254A>G
NR_148395.2:n.2652A>G
NR_148396.2:n.2286A>G
NR_148397.2:n.2411A>G
NR_148398.2:n.2366A>G
NR_148399.2:n.2807+85A>G
NR_148400.2:n.2491A>G