Canonical Allele Identifier: CA375315407

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134398461G>T (hg19) ; chr9:g.131523074G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523074G>T , CM000671.2:g.131523074G>T	GRCh38
NC_000009.11:g.134398461G>T , CM000671.1:g.134398461G>T	GRCh37
NC_000009.10:g.133388282G>T	NCBI36
NG_008896.1:g.25173G>T
NG_008896.2:g.25173G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.1984G>T	ENSP00000343034.7:p.Asp662Tyr
ENST00000404875.7:n.2686G>T
ENST00000423007.6:c.2203G>T	ENSP00000404119.2:p.Asp735Tyr
ENST00000677295.2:c.*2490G>T	ENSP00000504346.2:n.*2490G>T
ENST00000678264.2:c.*2329G>T	ENSP00000503157.2:n.*2329G>T
ENST00000682070.1:n.2456G>T
ENST00000682639.1:c.143G>T
ENST00000682813.1:n.2543G>T
ENST00000683231.1:c.143G>T
ENST00000683392.1:n.4738G>T
ENST00000683712.1:n.2551G>T
ENST00000683900.1:n.4046G>T
ENST00000684062.1:n.2812G>T
ENST00000684399.1:c.143G>T
ENST00000684579.1:n.3992G>T
ENST00000341012.12:c.1984G>T	ENSP00000343034.7:p.Asp662Tyr
ENST00000372220.5:c.1015G>T	ENSP00000361294.5:p.Asp339Tyr
ENST00000372228.9:c.2212G>T	ENSP00000361302.3:p.Asp738Tyr
ENST00000402686.8:c.2146G>T MANE Select	ENSP00000385797.4:p.Asp716Tyr
ENST00000676640.1:c.2146G>T	ENSP00000503281.1:p.Asp716Tyr
ENST00000676803.1:c.1207G>T	ENSP00000503093.1:p.Asp403Tyr
ENST00000676835.1:c.*1361G>T	ENSP00000502911.1:n.*1361G>T
ENST00000677029.1:c.1690G>T	ENSP00000502936.1:p.Asp564Tyr
ENST00000677099.1:c.*1856G>T	ENSP00000504553.1:n.*1856G>T
ENST00000677216.1:c.1795G>T	ENSP00000503772.1:p.Asp599Tyr
ENST00000677295.1:c.*1368G>T	ENSP00000504346.1:n.*1368G>T
ENST00000677444.1:c.2091G>T
ENST00000677586.1:n.1513G>T
ENST00000677626.1:c.1795G>T	ENSP00000503552.1:p.Asp599Tyr
ENST00000677853.1:c.*1154G>T	ENSP00000503488.1:n.*1154G>T
ENST00000678264.1:c.*1523G>T	ENSP00000503157.1:n.*1523G>T
ENST00000678303.1:c.2056G>T	ENSP00000503696.1:p.Asp686Tyr
ENST00000678366.1:c.*2395G>T	ENSP00000504353.1:n.*2395G>T
ENST00000678546.1:c.*2091G>T	ENSP00000503062.1:n.*2091G>T
ENST00000678548.1:c.*2285G>T	ENSP00000503934.1:n.*2285G>T
ENST00000678626.1:n.1982G>T
ENST00000678739.1:c.*2312G>T	ENSP00000503806.1:n.*2312G>T
ENST00000678833.1:c.*1898G>T	ENSP00000503893.1:n.*1898G>T
ENST00000679023.1:c.1984G>T	ENSP00000503718.1:p.Asp662Tyr
ENST00000679076.1:c.1765G>T
ENST00000679111.1:c.*902G>T	ENSP00000504257.1:n.*902G>T
ENST00000679189.1:c.1795G>T	ENSP00000503356.1:p.Asp599Tyr
ENST00000341012.11:c.1984G>T	ENSP00000343034.7:p.Asp662Tyr
ENST00000372220.4:c.1009G>T	ENSP00000361294.4:p.Asp337Tyr
ENST00000372228.7:c.2212G>T	ENSP00000361302.3:p.Asp738Tyr
ENST00000402686.7:c.2146G>T	ENSP00000385797.3:p.Asp716Tyr
ENST00000404875.6:c.1795G>T	ENSP00000384531.2:p.Asp599Tyr
ENST00000423007.5:c.2146G>T	ENSP00000404119.1:p.Asp716Tyr
ENST00000485278.5:n.2696G>T
NM_001077365.1:c.2146G>T	NP_001070833.1:p.Asp716Tyr
NM_001077366.1:c.1984G>T	NP_001070834.1:p.Asp662Tyr
NM_001136113.1:c.2146G>T	NP_001129585.1:p.Asp716Tyr
NM_001136114.1:c.1795G>T	NP_001129586.1:p.Asp599Tyr
NM_007171.3:c.2212G>T	NP_009102.3:p.Asp738Tyr
XM_005272156.1:c.2212G>T	XP_005272213.1:p.Asp738Tyr
XM_005272158.1:c.2050G>T	XP_005272215.1:p.Asp684Tyr
XM_005272159.1:c.1861G>T	XP_005272216.1:p.Asp621Tyr
XM_005272162.1:c.1015G>T	XP_005272219.1:p.Asp339Tyr
XM_006716932.1:c.1861G>T	XP_006716995.1:p.Asp621Tyr
XM_011518140.1:c.2065G>T	XP_011516442.1:p.Asp689Tyr
XM_011518141.1:c.1999G>T	XP_011516443.1:p.Asp667Tyr
XM_011518142.1:c.1903G>T	XP_011516444.1:p.Asp635Tyr
XM_011518143.1:c.1897G>T	XP_011516445.1:p.Asp633Tyr
XM_011518145.1:c.1756G>T	XP_011516447.1:p.Asp586Tyr
XM_011518147.1:c.1084G>T	XP_011516449.1:p.Asp362Tyr
XR_929703.1:n.2388G>T
NM_001353193.1:c.2212G>T	NP_001340122.1:p.Asp738Tyr
NM_001353194.1:c.1984G>T	NP_001340123.1:p.Asp662Tyr
NM_001353195.1:c.1795G>T	NP_001340124.1:p.Asp599Tyr
NM_001353196.1:c.2056G>T	NP_001340125.1:p.Asp686Tyr
NM_001353197.1:c.2050G>T	NP_001340126.1:p.Asp684Tyr
NM_001353198.1:c.2050G>T	NP_001340127.1:p.Asp684Tyr
NM_001353199.1:c.1861G>T	NP_001340128.1:p.Asp621Tyr
NM_001353200.1:c.1690G>T	NP_001340129.1:p.Asp564Tyr
NR_148391.1:n.2196G>T
NR_148392.1:n.2414G>T
NR_148393.1:n.2335G>T
NR_148394.1:n.2089G>T
NR_148395.1:n.2487G>T
NR_148396.1:n.2121G>T
NR_148397.1:n.2246G>T
NR_148398.1:n.2201G>T
NR_148399.1:n.2727G>T
NR_148400.1:n.2326G>T
XM_005272162.3:c.1015G>T	XP_005272219.1:p.Asp339Tyr
XM_006716932.2:c.1861G>T	XP_006716995.1:p.Asp621Tyr
XM_011518140.2:c.2065G>T	XP_011516442.1:p.Asp689Tyr
XM_011518141.2:c.1999G>T	XP_011516443.1:p.Asp667Tyr
XM_011518142.2:c.1903G>T	XP_011516444.1:p.Asp635Tyr
XM_011518143.2:c.1897G>T	XP_011516445.1:p.Asp633Tyr
XM_011518145.2:c.1756G>T	XP_011516447.1:p.Asp586Tyr
XM_017014205.2:c.1015G>T	XP_016869694.1:p.Asp339Tyr
XM_024447380.1:c.1015G>T	XP_024303148.1:p.Asp339Tyr
XM_024447381.1:c.1321G>T	XP_024303149.1:p.Asp441Tyr
XM_024447382.1:c.1015G>T	XP_024303150.1:p.Asp339Tyr
XR_001746160.2:n.2316G>T
XR_001746162.2:n.2521G>T
XR_001746164.1:n.2238G>T
XR_001746166.2:n.2533G>T
NM_001077365.2:c.2146G>T MANE Select	NP_001070833.1:p.Asp716Tyr
NM_001077366.2:c.1984G>T	NP_001070834.1:p.Asp662Tyr
NM_001136113.2:c.2146G>T	NP_001129585.1:p.Asp716Tyr
NM_001136114.2:c.1795G>T	NP_001129586.1:p.Asp599Tyr
NM_001353193.2:c.2212G>T	NP_001340122.2:p.Asp738Tyr
NM_001353194.2:c.1984G>T	NP_001340123.1:p.Asp662Tyr
NM_001353195.2:c.1795G>T	NP_001340124.1:p.Asp599Tyr
NM_001353196.2:c.2056G>T	NP_001340125.1:p.Asp686Tyr
NM_001353197.2:c.2050G>T	NP_001340126.2:p.Asp684Tyr
NM_001353198.2:c.2050G>T	NP_001340127.2:p.Asp684Tyr
NM_001353199.2:c.1861G>T	NP_001340128.2:p.Asp621Tyr
NM_001353200.2:c.1690G>T	NP_001340129.1:p.Asp564Tyr
NM_001374689.1:c.2134G>T	NP_001361618.1:p.Asp712Tyr
NM_001374690.1:c.1927G>T	NP_001361619.1:p.Asp643Tyr
NM_001374691.1:c.1795G>T	NP_001361620.1:p.Asp599Tyr
NM_001374692.1:c.1795G>T	NP_001361621.1:p.Asp599Tyr
NM_001374693.1:c.1795G>T	NP_001361622.1:p.Asp599Tyr
NM_001374695.1:c.1756G>T	NP_001361624.1:p.Asp586Tyr
NM_007171.4:c.2212G>T	NP_009102.4:p.Asp738Tyr
NR_148391.2:n.2180G>T
NR_148392.2:n.2398G>T
NR_148393.2:n.2319G>T
NR_148394.2:n.2073G>T
NR_148395.2:n.2471G>T
NR_148396.2:n.2105G>T
NR_148397.2:n.2230G>T
NR_148398.2:n.2185G>T
NR_148399.2:n.2711G>T
NR_148400.2:n.2310G>T