Canonical Allele Identifier: CA467424237

Gene: POMT1

Linked Data

• dbSNP Id: rs1950293151
• MyVariant Identifiers: chr9:g.134398460A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523073A>G , CM000671.2:g.131523073A>G	GRCh38
NC_000009.11:g.134398460A>G , CM000671.1:g.134398460A>G	GRCh37
NC_000009.10:g.133388281A>G	NCBI36
NG_008896.1:g.25172A>G
NG_008896.2:g.25172A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.1983A>G	ENSP00000343034.7:p.Lys661=
ENST00000404875.7:n.2685A>G
ENST00000423007.6:c.2202A>G	ENSP00000404119.2:p.Lys734=
ENST00000677295.2:c.*2489A>G	ENSP00000504346.2:n.*2489A>G
ENST00000678264.2:c.*2328A>G	ENSP00000503157.2:n.*2328A>G
ENST00000682070.1:n.2455A>G
ENST00000682639.1:c.142A>G
ENST00000682813.1:n.2542A>G
ENST00000683231.1:c.142A>G
ENST00000683392.1:n.4737A>G
ENST00000683712.1:n.2550A>G
ENST00000683900.1:n.4045A>G
ENST00000684062.1:n.2811A>G
ENST00000684399.1:c.142A>G
ENST00000684579.1:n.3991A>G
ENST00000341012.12:c.1983A>G	ENSP00000343034.7:p.Lys661=
ENST00000372220.5:c.1014A>G	ENSP00000361294.5:p.Lys338=
ENST00000372228.9:c.2211A>G	ENSP00000361302.3:p.Lys737=
ENST00000402686.8:c.2145A>G MANE Select	ENSP00000385797.4:p.Lys715=
ENST00000676640.1:c.2145A>G	ENSP00000503281.1:p.Lys715=
ENST00000676803.1:c.1206A>G	ENSP00000503093.1:p.Lys402=
ENST00000676835.1:c.*1360A>G	ENSP00000502911.1:n.*1360A>G
ENST00000677029.1:c.1689A>G	ENSP00000502936.1:p.Lys563=
ENST00000677099.1:c.*1855A>G	ENSP00000504553.1:n.*1855A>G
ENST00000677216.1:c.1794A>G	ENSP00000503772.1:p.Lys598=
ENST00000677295.1:c.*1367A>G	ENSP00000504346.1:n.*1367A>G
ENST00000677444.1:c.2090A>G
ENST00000677586.1:n.1512A>G
ENST00000677626.1:c.1794A>G	ENSP00000503552.1:p.Lys598=
ENST00000677853.1:c.*1153A>G	ENSP00000503488.1:n.*1153A>G
ENST00000678264.1:c.*1522A>G	ENSP00000503157.1:n.*1522A>G
ENST00000678303.1:c.2055A>G	ENSP00000503696.1:p.Lys685=
ENST00000678366.1:c.*2394A>G	ENSP00000504353.1:n.*2394A>G
ENST00000678546.1:c.*2090A>G	ENSP00000503062.1:n.*2090A>G
ENST00000678548.1:c.*2284A>G	ENSP00000503934.1:n.*2284A>G
ENST00000678626.1:n.1981A>G
ENST00000678739.1:c.*2311A>G	ENSP00000503806.1:n.*2311A>G
ENST00000678833.1:c.*1897A>G	ENSP00000503893.1:n.*1897A>G
ENST00000679023.1:c.1983A>G	ENSP00000503718.1:p.Lys661=
ENST00000679076.1:c.1764A>G
ENST00000679111.1:c.*901A>G	ENSP00000504257.1:n.*901A>G
ENST00000679189.1:c.1794A>G	ENSP00000503356.1:p.Lys598=
ENST00000341012.11:c.1983A>G	ENSP00000343034.7:p.Lys661=
ENST00000372220.4:c.1008A>G	ENSP00000361294.4:p.Lys336=
ENST00000372228.7:c.2211A>G	ENSP00000361302.3:p.Lys737=
ENST00000402686.7:c.2145A>G	ENSP00000385797.3:p.Lys715=
ENST00000404875.6:c.1794A>G	ENSP00000384531.2:p.Lys598=
ENST00000423007.5:c.2145A>G	ENSP00000404119.1:p.Lys715=
ENST00000485278.5:n.2695A>G
NM_001077365.1:c.2145A>G	NP_001070833.1:p.Lys715=
NM_001077366.1:c.1983A>G	NP_001070834.1:p.Lys661=
NM_001136113.1:c.2145A>G	NP_001129585.1:p.Lys715=
NM_001136114.1:c.1794A>G	NP_001129586.1:p.Lys598=
NM_007171.3:c.2211A>G	NP_009102.3:p.Lys737=
XM_005272156.1:c.2211A>G	XP_005272213.1:p.Lys737=
XM_005272158.1:c.2049A>G	XP_005272215.1:p.Lys683=
XM_005272159.1:c.1860A>G	XP_005272216.1:p.Lys620=
XM_005272162.1:c.1014A>G	XP_005272219.1:p.Lys338=
XM_006716932.1:c.1860A>G	XP_006716995.1:p.Lys620=
XM_011518140.1:c.2064A>G	XP_011516442.1:p.Lys688=
XM_011518141.1:c.1998A>G	XP_011516443.1:p.Lys666=
XM_011518142.1:c.1902A>G	XP_011516444.1:p.Lys634=
XM_011518143.1:c.1896A>G	XP_011516445.1:p.Lys632=
XM_011518145.1:c.1755A>G	XP_011516447.1:p.Lys585=
XM_011518147.1:c.1083A>G	XP_011516449.1:p.Lys361=
XR_929703.1:n.2387A>G
NM_001353193.1:c.2211A>G	NP_001340122.1:p.Lys737=
NM_001353194.1:c.1983A>G	NP_001340123.1:p.Lys661=
NM_001353195.1:c.1794A>G	NP_001340124.1:p.Lys598=
NM_001353196.1:c.2055A>G	NP_001340125.1:p.Lys685=
NM_001353197.1:c.2049A>G	NP_001340126.1:p.Lys683=
NM_001353198.1:c.2049A>G	NP_001340127.1:p.Lys683=
NM_001353199.1:c.1860A>G	NP_001340128.1:p.Lys620=
NM_001353200.1:c.1689A>G	NP_001340129.1:p.Lys563=
NR_148391.1:n.2195A>G
NR_148392.1:n.2413A>G
NR_148393.1:n.2334A>G
NR_148394.1:n.2088A>G
NR_148395.1:n.2486A>G
NR_148396.1:n.2120A>G
NR_148397.1:n.2245A>G
NR_148398.1:n.2200A>G
NR_148399.1:n.2726A>G
NR_148400.1:n.2325A>G
XM_005272162.3:c.1014A>G	XP_005272219.1:p.Lys338=
XM_006716932.2:c.1860A>G	XP_006716995.1:p.Lys620=
XM_011518140.2:c.2064A>G	XP_011516442.1:p.Lys688=
XM_011518141.2:c.1998A>G	XP_011516443.1:p.Lys666=
XM_011518142.2:c.1902A>G	XP_011516444.1:p.Lys634=
XM_011518143.2:c.1896A>G	XP_011516445.1:p.Lys632=
XM_011518145.2:c.1755A>G	XP_011516447.1:p.Lys585=
XM_017014205.2:c.1014A>G	XP_016869694.1:p.Lys338=
XM_024447380.1:c.1014A>G	XP_024303148.1:p.Lys338=
XM_024447381.1:c.1320A>G	XP_024303149.1:p.Lys440=
XM_024447382.1:c.1014A>G	XP_024303150.1:p.Lys338=
XR_001746160.2:n.2315A>G
XR_001746162.2:n.2520A>G
XR_001746164.1:n.2237A>G
XR_001746166.2:n.2532A>G
NM_001077365.2:c.2145A>G MANE Select	NP_001070833.1:p.Lys715=
NM_001077366.2:c.1983A>G	NP_001070834.1:p.Lys661=
NM_001136113.2:c.2145A>G	NP_001129585.1:p.Lys715=
NM_001136114.2:c.1794A>G	NP_001129586.1:p.Lys598=
NM_001353193.2:c.2211A>G	NP_001340122.2:p.Lys737=
NM_001353194.2:c.1983A>G	NP_001340123.1:p.Lys661=
NM_001353195.2:c.1794A>G	NP_001340124.1:p.Lys598=
NM_001353196.2:c.2055A>G	NP_001340125.1:p.Lys685=
NM_001353197.2:c.2049A>G	NP_001340126.2:p.Lys683=
NM_001353198.2:c.2049A>G	NP_001340127.2:p.Lys683=
NM_001353199.2:c.1860A>G	NP_001340128.2:p.Lys620=
NM_001353200.2:c.1689A>G	NP_001340129.1:p.Lys563=
NM_001374689.1:c.2133A>G	NP_001361618.1:p.Lys711=
NM_001374690.1:c.1926A>G	NP_001361619.1:p.Lys642=
NM_001374691.1:c.1794A>G	NP_001361620.1:p.Lys598=
NM_001374692.1:c.1794A>G	NP_001361621.1:p.Lys598=
NM_001374693.1:c.1794A>G	NP_001361622.1:p.Lys598=
NM_001374695.1:c.1755A>G	NP_001361624.1:p.Lys585=
NM_007171.4:c.2211A>G	NP_009102.4:p.Lys737=
NR_148391.2:n.2179A>G
NR_148392.2:n.2397A>G
NR_148393.2:n.2318A>G
NR_148394.2:n.2072A>G
NR_148395.2:n.2470A>G
NR_148396.2:n.2104A>G
NR_148397.2:n.2229A>G
NR_148398.2:n.2184A>G
NR_148399.2:n.2710A>G
NR_148400.2:n.2309A>G