Canonical Allele Identifier: CA375315413

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134398462A>T (hg19) ; chr9:g.131523075A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523075A>T , CM000671.2:g.131523075A>T	GRCh38
NC_000009.11:g.134398462A>T , CM000671.1:g.134398462A>T	GRCh37
NC_000009.10:g.133388283A>T	NCBI36
NG_008896.1:g.25174A>T
NG_008896.2:g.25174A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.1985A>T	ENSP00000343034.7:p.Asp662Val
ENST00000404875.7:n.2687A>T
ENST00000423007.6:c.2204A>T	ENSP00000404119.2:p.Asp735Val
ENST00000677295.2:c.*2491A>T	ENSP00000504346.2:n.*2491A>T
ENST00000678264.2:c.*2330A>T	ENSP00000503157.2:n.*2330A>T
ENST00000682070.1:n.2457A>T
ENST00000682639.1:c.144A>T
ENST00000682813.1:n.2544A>T
ENST00000683231.1:c.144A>T
ENST00000683392.1:n.4739A>T
ENST00000683712.1:n.2552A>T
ENST00000683900.1:n.4047A>T
ENST00000684062.1:n.2813A>T
ENST00000684399.1:c.144A>T
ENST00000684579.1:n.3993A>T
ENST00000341012.12:c.1985A>T	ENSP00000343034.7:p.Asp662Val
ENST00000372220.5:c.1016A>T	ENSP00000361294.5:p.Asp339Val
ENST00000372228.9:c.2213A>T	ENSP00000361302.3:p.Asp738Val
ENST00000402686.8:c.2147A>T MANE Select	ENSP00000385797.4:p.Asp716Val
ENST00000676640.1:c.2147A>T	ENSP00000503281.1:p.Asp716Val
ENST00000676803.1:c.1208A>T	ENSP00000503093.1:p.Asp403Val
ENST00000676835.1:c.*1362A>T	ENSP00000502911.1:n.*1362A>T
ENST00000677029.1:c.1691A>T	ENSP00000502936.1:p.Asp564Val
ENST00000677099.1:c.*1857A>T	ENSP00000504553.1:n.*1857A>T
ENST00000677216.1:c.1796A>T	ENSP00000503772.1:p.Asp599Val
ENST00000677295.1:c.*1369A>T	ENSP00000504346.1:n.*1369A>T
ENST00000677444.1:c.2092A>T
ENST00000677586.1:n.1514A>T
ENST00000677626.1:c.1796A>T	ENSP00000503552.1:p.Asp599Val
ENST00000677853.1:c.*1155A>T	ENSP00000503488.1:n.*1155A>T
ENST00000678264.1:c.*1524A>T	ENSP00000503157.1:n.*1524A>T
ENST00000678303.1:c.2057A>T	ENSP00000503696.1:p.Asp686Val
ENST00000678366.1:c.*2396A>T	ENSP00000504353.1:n.*2396A>T
ENST00000678546.1:c.*2092A>T	ENSP00000503062.1:n.*2092A>T
ENST00000678548.1:c.*2286A>T	ENSP00000503934.1:n.*2286A>T
ENST00000678626.1:n.1983A>T
ENST00000678739.1:c.*2313A>T	ENSP00000503806.1:n.*2313A>T
ENST00000678833.1:c.*1899A>T	ENSP00000503893.1:n.*1899A>T
ENST00000679023.1:c.1985A>T	ENSP00000503718.1:p.Asp662Val
ENST00000679076.1:c.1766A>T
ENST00000679111.1:c.*903A>T	ENSP00000504257.1:n.*903A>T
ENST00000679189.1:c.1796A>T	ENSP00000503356.1:p.Asp599Val
ENST00000341012.11:c.1985A>T	ENSP00000343034.7:p.Asp662Val
ENST00000372220.4:c.1010A>T	ENSP00000361294.4:p.Asp337Val
ENST00000372228.7:c.2213A>T	ENSP00000361302.3:p.Asp738Val
ENST00000402686.7:c.2147A>T	ENSP00000385797.3:p.Asp716Val
ENST00000404875.6:c.1796A>T	ENSP00000384531.2:p.Asp599Val
ENST00000423007.5:c.2147A>T	ENSP00000404119.1:p.Asp716Val
ENST00000485278.5:n.2697A>T
NM_001077365.1:c.2147A>T	NP_001070833.1:p.Asp716Val
NM_001077366.1:c.1985A>T	NP_001070834.1:p.Asp662Val
NM_001136113.1:c.2147A>T	NP_001129585.1:p.Asp716Val
NM_001136114.1:c.1796A>T	NP_001129586.1:p.Asp599Val
NM_007171.3:c.2213A>T	NP_009102.3:p.Asp738Val
XM_005272156.1:c.2213A>T	XP_005272213.1:p.Asp738Val
XM_005272158.1:c.2051A>T	XP_005272215.1:p.Asp684Val
XM_005272159.1:c.1862A>T	XP_005272216.1:p.Asp621Val
XM_005272162.1:c.1016A>T	XP_005272219.1:p.Asp339Val
XM_006716932.1:c.1862A>T	XP_006716995.1:p.Asp621Val
XM_011518140.1:c.2066A>T	XP_011516442.1:p.Asp689Val
XM_011518141.1:c.2000A>T	XP_011516443.1:p.Asp667Val
XM_011518142.1:c.1904A>T	XP_011516444.1:p.Asp635Val
XM_011518143.1:c.1898A>T	XP_011516445.1:p.Asp633Val
XM_011518145.1:c.1757A>T	XP_011516447.1:p.Asp586Val
XM_011518147.1:c.1085A>T	XP_011516449.1:p.Asp362Val
XR_929703.1:n.2389A>T
NM_001353193.1:c.2213A>T	NP_001340122.1:p.Asp738Val
NM_001353194.1:c.1985A>T	NP_001340123.1:p.Asp662Val
NM_001353195.1:c.1796A>T	NP_001340124.1:p.Asp599Val
NM_001353196.1:c.2057A>T	NP_001340125.1:p.Asp686Val
NM_001353197.1:c.2051A>T	NP_001340126.1:p.Asp684Val
NM_001353198.1:c.2051A>T	NP_001340127.1:p.Asp684Val
NM_001353199.1:c.1862A>T	NP_001340128.1:p.Asp621Val
NM_001353200.1:c.1691A>T	NP_001340129.1:p.Asp564Val
NR_148391.1:n.2197A>T
NR_148392.1:n.2415A>T
NR_148393.1:n.2336A>T
NR_148394.1:n.2090A>T
NR_148395.1:n.2488A>T
NR_148396.1:n.2122A>T
NR_148397.1:n.2247A>T
NR_148398.1:n.2202A>T
NR_148399.1:n.2728A>T
NR_148400.1:n.2327A>T
XM_005272162.3:c.1016A>T	XP_005272219.1:p.Asp339Val
XM_006716932.2:c.1862A>T	XP_006716995.1:p.Asp621Val
XM_011518140.2:c.2066A>T	XP_011516442.1:p.Asp689Val
XM_011518141.2:c.2000A>T	XP_011516443.1:p.Asp667Val
XM_011518142.2:c.1904A>T	XP_011516444.1:p.Asp635Val
XM_011518143.2:c.1898A>T	XP_011516445.1:p.Asp633Val
XM_011518145.2:c.1757A>T	XP_011516447.1:p.Asp586Val
XM_017014205.2:c.1016A>T	XP_016869694.1:p.Asp339Val
XM_024447380.1:c.1016A>T	XP_024303148.1:p.Asp339Val
XM_024447381.1:c.1322A>T	XP_024303149.1:p.Asp441Val
XM_024447382.1:c.1016A>T	XP_024303150.1:p.Asp339Val
XR_001746160.2:n.2317A>T
XR_001746162.2:n.2522A>T
XR_001746164.1:n.2239A>T
XR_001746166.2:n.2534A>T
NM_001077365.2:c.2147A>T MANE Select	NP_001070833.1:p.Asp716Val
NM_001077366.2:c.1985A>T	NP_001070834.1:p.Asp662Val
NM_001136113.2:c.2147A>T	NP_001129585.1:p.Asp716Val
NM_001136114.2:c.1796A>T	NP_001129586.1:p.Asp599Val
NM_001353193.2:c.2213A>T	NP_001340122.2:p.Asp738Val
NM_001353194.2:c.1985A>T	NP_001340123.1:p.Asp662Val
NM_001353195.2:c.1796A>T	NP_001340124.1:p.Asp599Val
NM_001353196.2:c.2057A>T	NP_001340125.1:p.Asp686Val
NM_001353197.2:c.2051A>T	NP_001340126.2:p.Asp684Val
NM_001353198.2:c.2051A>T	NP_001340127.2:p.Asp684Val
NM_001353199.2:c.1862A>T	NP_001340128.2:p.Asp621Val
NM_001353200.2:c.1691A>T	NP_001340129.1:p.Asp564Val
NM_001374689.1:c.2135A>T	NP_001361618.1:p.Asp712Val
NM_001374690.1:c.1928A>T	NP_001361619.1:p.Asp643Val
NM_001374691.1:c.1796A>T	NP_001361620.1:p.Asp599Val
NM_001374692.1:c.1796A>T	NP_001361621.1:p.Asp599Val
NM_001374693.1:c.1796A>T	NP_001361622.1:p.Asp599Val
NM_001374695.1:c.1757A>T	NP_001361624.1:p.Asp586Val
NM_007171.4:c.2213A>T	NP_009102.4:p.Asp738Val
NR_148391.2:n.2181A>T
NR_148392.2:n.2399A>T
NR_148393.2:n.2320A>T
NR_148394.2:n.2074A>T
NR_148395.2:n.2472A>T
NR_148396.2:n.2106A>T
NR_148397.2:n.2231A>T
NR_148398.2:n.2186A>T
NR_148399.2:n.2712A>T
NR_148400.2:n.2311A>T