Canonical Allele Identifier: CA375315476

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134398476T>A (hg19) ; chr9:g.131523089T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523089T>A , CM000671.2:g.131523089T>A	GRCh38
NC_000009.11:g.134398476T>A , CM000671.1:g.134398476T>A	GRCh37
NC_000009.10:g.133388297T>A	NCBI36
NG_008896.1:g.25188T>A
NG_008896.2:g.25188T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1999T>A	ENSP00000343034.7:p.Leu667Met
ENST00000404875.7:n.2701T>A
ENST00000423007.6:c.2218T>A	ENSP00000404119.2:p.Leu740Met
ENST00000677295.2:c.*2505T>A	ENSP00000504346.2:n.*2505T>A
ENST00000678264.2:c.*2344T>A	ENSP00000503157.2:n.*2344T>A
ENST00000682070.1:n.2471T>A
ENST00000682639.1:c.158T>A
ENST00000682813.1:n.2558T>A
ENST00000683231.1:c.158T>A
ENST00000683392.1:n.4753T>A
ENST00000683712.1:n.2566T>A
ENST00000683900.1:n.4061T>A
ENST00000684062.1:n.2827T>A
ENST00000684399.1:c.158T>A
ENST00000684579.1:n.4007T>A
ENST00000341012.12:c.1999T>A	ENSP00000343034.7:p.Leu667Met
ENST00000372220.5:c.1030T>A	ENSP00000361294.5:p.Leu344Met
ENST00000372228.9:c.2227T>A	ENSP00000361302.3:p.Leu743Met
ENST00000402686.8:c.2161T>A MANE Select	ENSP00000385797.4:p.Leu721Met
ENST00000676640.1:c.2161T>A	ENSP00000503281.1:p.Leu721Met
ENST00000676803.1:c.1222T>A	ENSP00000503093.1:p.Leu408Met
ENST00000676835.1:c.*1376T>A	ENSP00000502911.1:n.*1376T>A
ENST00000677029.1:c.1705T>A	ENSP00000502936.1:p.Leu569Met
ENST00000677099.1:c.*1871T>A	ENSP00000504553.1:n.*1871T>A
ENST00000677216.1:c.1810T>A	ENSP00000503772.1:p.Leu604Met
ENST00000677295.1:c.*1383T>A	ENSP00000504346.1:n.*1383T>A
ENST00000677444.1:c.2106T>A
ENST00000677586.1:n.1528T>A
ENST00000677626.1:c.1810T>A	ENSP00000503552.1:p.Leu604Met
ENST00000677853.1:c.*1169T>A	ENSP00000503488.1:n.*1169T>A
ENST00000678264.1:c.*1538T>A	ENSP00000503157.1:n.*1538T>A
ENST00000678303.1:c.2071T>A	ENSP00000503696.1:p.Leu691Met
ENST00000678366.1:c.*2410T>A	ENSP00000504353.1:n.*2410T>A
ENST00000678546.1:c.*2106T>A	ENSP00000503062.1:n.*2106T>A
ENST00000678548.1:c.*2300T>A	ENSP00000503934.1:n.*2300T>A
ENST00000678626.1:n.1997T>A
ENST00000678739.1:c.*2327T>A	ENSP00000503806.1:n.*2327T>A
ENST00000678833.1:c.*1913T>A	ENSP00000503893.1:n.*1913T>A
ENST00000679023.1:c.1999T>A	ENSP00000503718.1:p.Leu667Met
ENST00000679076.1:c.1780T>A
ENST00000679111.1:c.*917T>A	ENSP00000504257.1:n.*917T>A
ENST00000679189.1:c.1810T>A	ENSP00000503356.1:p.Leu604Met
ENST00000341012.11:c.1999T>A	ENSP00000343034.7:p.Leu667Met
ENST00000372220.4:c.1024T>A	ENSP00000361294.4:p.Leu342Met
ENST00000372228.7:c.2227T>A	ENSP00000361302.3:p.Leu743Met
ENST00000402686.7:c.2161T>A	ENSP00000385797.3:p.Leu721Met
ENST00000404875.6:c.1810T>A	ENSP00000384531.2:p.Leu604Met
ENST00000423007.5:c.2161T>A	ENSP00000404119.1:p.Leu721Met
ENST00000485278.5:n.2711T>A
NM_001077365.1:c.2161T>A	NP_001070833.1:p.Leu721Met
NM_001077366.1:c.1999T>A	NP_001070834.1:p.Leu667Met
NM_001136113.1:c.2161T>A	NP_001129585.1:p.Leu721Met
NM_001136114.1:c.1810T>A	NP_001129586.1:p.Leu604Met
NM_007171.3:c.2227T>A	NP_009102.3:p.Leu743Met
XM_005272156.1:c.2227T>A	XP_005272213.1:p.Leu743Met
XM_005272158.1:c.2065T>A	XP_005272215.1:p.Leu689Met
XM_005272159.1:c.1876T>A	XP_005272216.1:p.Leu626Met
XM_005272162.1:c.1030T>A	XP_005272219.1:p.Leu344Met
XM_006716932.1:c.1876T>A	XP_006716995.1:p.Leu626Met
XM_011518140.1:c.2080T>A	XP_011516442.1:p.Leu694Met
XM_011518141.1:c.2014T>A	XP_011516443.1:p.Leu672Met
XM_011518142.1:c.1918T>A	XP_011516444.1:p.Leu640Met
XM_011518143.1:c.1912T>A	XP_011516445.1:p.Leu638Met
XM_011518145.1:c.1771T>A	XP_011516447.1:p.Leu591Met
XM_011518147.1:c.1099T>A	XP_011516449.1:p.Leu367Met
XR_929703.1:n.2403T>A
NM_001353193.1:c.2227T>A	NP_001340122.1:p.Leu743Met
NM_001353194.1:c.1999T>A	NP_001340123.1:p.Leu667Met
NM_001353195.1:c.1810T>A	NP_001340124.1:p.Leu604Met
NM_001353196.1:c.2071T>A	NP_001340125.1:p.Leu691Met
NM_001353197.1:c.2065T>A	NP_001340126.1:p.Leu689Met
NM_001353198.1:c.2065T>A	NP_001340127.1:p.Leu689Met
NM_001353199.1:c.1876T>A	NP_001340128.1:p.Leu626Met
NM_001353200.1:c.1705T>A	NP_001340129.1:p.Leu569Met
NR_148391.1:n.2211T>A
NR_148392.1:n.2429T>A
NR_148393.1:n.2350T>A
NR_148394.1:n.2104T>A
NR_148395.1:n.2502T>A
NR_148396.1:n.2136T>A
NR_148397.1:n.2261T>A
NR_148398.1:n.2216T>A
NR_148399.1:n.2742T>A
NR_148400.1:n.2341T>A
XM_005272162.3:c.1030T>A	XP_005272219.1:p.Leu344Met
XM_006716932.2:c.1876T>A	XP_006716995.1:p.Leu626Met
XM_011518140.2:c.2080T>A	XP_011516442.1:p.Leu694Met
XM_011518141.2:c.2014T>A	XP_011516443.1:p.Leu672Met
XM_011518142.2:c.1918T>A	XP_011516444.1:p.Leu640Met
XM_011518143.2:c.1912T>A	XP_011516445.1:p.Leu638Met
XM_011518145.2:c.1771T>A	XP_011516447.1:p.Leu591Met
XM_017014205.2:c.1030T>A	XP_016869694.1:p.Leu344Met
XM_024447380.1:c.1030T>A	XP_024303148.1:p.Leu344Met
XM_024447381.1:c.1336T>A	XP_024303149.1:p.Leu446Met
XM_024447382.1:c.1030T>A	XP_024303150.1:p.Leu344Met
XR_001746160.2:n.2331T>A
XR_001746162.2:n.2536T>A
XR_001746164.1:n.2253T>A
XR_001746166.2:n.2548T>A
NM_001077365.2:c.2161T>A MANE Select	NP_001070833.1:p.Leu721Met
NM_001077366.2:c.1999T>A	NP_001070834.1:p.Leu667Met
NM_001136113.2:c.2161T>A	NP_001129585.1:p.Leu721Met
NM_001136114.2:c.1810T>A	NP_001129586.1:p.Leu604Met
NM_001353193.2:c.2227T>A	NP_001340122.2:p.Leu743Met
NM_001353194.2:c.1999T>A	NP_001340123.1:p.Leu667Met
NM_001353195.2:c.1810T>A	NP_001340124.1:p.Leu604Met
NM_001353196.2:c.2071T>A	NP_001340125.1:p.Leu691Met
NM_001353197.2:c.2065T>A	NP_001340126.2:p.Leu689Met
NM_001353198.2:c.2065T>A	NP_001340127.2:p.Leu689Met
NM_001353199.2:c.1876T>A	NP_001340128.2:p.Leu626Met
NM_001353200.2:c.1705T>A	NP_001340129.1:p.Leu569Met
NM_001374689.1:c.2149T>A	NP_001361618.1:p.Leu717Met
NM_001374690.1:c.1942T>A	NP_001361619.1:p.Leu648Met
NM_001374691.1:c.1810T>A	NP_001361620.1:p.Leu604Met
NM_001374692.1:c.1810T>A	NP_001361621.1:p.Leu604Met
NM_001374693.1:c.1810T>A	NP_001361622.1:p.Leu604Met
NM_001374695.1:c.1771T>A	NP_001361624.1:p.Leu591Met
NM_007171.4:c.2227T>A	NP_009102.4:p.Leu743Met
NR_148391.2:n.2195T>A
NR_148392.2:n.2413T>A
NR_148393.2:n.2334T>A
NR_148394.2:n.2088T>A
NR_148395.2:n.2486T>A
NR_148396.2:n.2120T>A
NR_148397.2:n.2245T>A
NR_148398.2:n.2200T>A
NR_148399.2:n.2726T>A
NR_148400.2:n.2325T>A