Canonical Allele Identifier: CA1881760444

Gene: POMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523051A= , CM000671.2:g.131523051A=	GRCh38
NC_000009.11:g.134398438A= , CM000671.1:g.134398438A=	GRCh37
NC_000009.10:g.133388259A=	NCBI36
NG_008896.1:g.25150A=
NG_008896.2:g.25150A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1961A=	ENSP00000343034.7:p.Glu654=
ENST00000404875.7:n.2663A=
ENST00000423007.6:c.2180A=	ENSP00000404119.2:p.Glu727=
ENST00000677295.2:c.*2467A=	ENSP00000504346.2:n.*2467A=
ENST00000678264.2:c.*2306A=	ENSP00000503157.2:n.*2306A=
ENST00000682070.1:n.2433A=
ENST00000682639.1:c.120A=
ENST00000682813.1:n.2520A=
ENST00000683231.1:c.120A=
ENST00000683392.1:n.4715A=
ENST00000683712.1:n.2528A=
ENST00000683900.1:n.4023A=
ENST00000684062.1:n.2789A=
ENST00000684399.1:c.120A=
ENST00000684579.1:n.3969A=
ENST00000341012.12:c.1961A=	ENSP00000343034.7:p.Glu654=
ENST00000372220.5:c.992A=	ENSP00000361294.5:p.Glu331=
ENST00000372228.9:c.2189A=	ENSP00000361302.3:p.Glu730=
ENST00000402686.8:c.2123A= MANE Select	ENSP00000385797.4:p.Glu708=
ENST00000676640.1:c.2123A=	ENSP00000503281.1:p.Glu708=
ENST00000676803.1:c.1184A=	ENSP00000503093.1:p.Glu395=
ENST00000676835.1:c.*1338A=	ENSP00000502911.1:n.*1338A=
ENST00000677029.1:c.1667A=	ENSP00000502936.1:p.Glu556=
ENST00000677099.1:c.*1833A=	ENSP00000504553.1:n.*1833A=
ENST00000677216.1:c.1772A=	ENSP00000503772.1:p.Glu591=
ENST00000677295.1:c.*1345A=	ENSP00000504346.1:n.*1345A=
ENST00000677444.1:c.2068A=
ENST00000677586.1:n.1490A=
ENST00000677626.1:c.1772A=	ENSP00000503552.1:p.Glu591=
ENST00000677853.1:c.*1131A=	ENSP00000503488.1:n.*1131A=
ENST00000678264.1:c.*1500A=	ENSP00000503157.1:n.*1500A=
ENST00000678303.1:c.2033A=	ENSP00000503696.1:p.Glu678=
ENST00000678366.1:c.*2372A=	ENSP00000504353.1:n.*2372A=
ENST00000678546.1:c.*2068A=	ENSP00000503062.1:n.*2068A=
ENST00000678548.1:c.*2262A=	ENSP00000503934.1:n.*2262A=
ENST00000678626.1:n.1959A=
ENST00000678739.1:c.*2289A=	ENSP00000503806.1:n.*2289A=
ENST00000678833.1:c.*1875A=	ENSP00000503893.1:n.*1875A=
ENST00000679023.1:c.1961A=	ENSP00000503718.1:p.Glu654=
ENST00000679076.1:c.1742A=
ENST00000679111.1:c.*879A=	ENSP00000504257.1:n.*879A=
ENST00000679189.1:c.1772A=	ENSP00000503356.1:p.Glu591=
ENST00000341012.11:c.1961A=	ENSP00000343034.7:p.Glu654=
ENST00000372220.4:c.986A=	ENSP00000361294.4:p.Glu329=
ENST00000372228.7:c.2189A=	ENSP00000361302.3:p.Glu730=
ENST00000402686.7:c.2123A=	ENSP00000385797.3:p.Glu708=
ENST00000404875.6:c.1772A=	ENSP00000384531.2:p.Glu591=
ENST00000423007.5:c.2123A=	ENSP00000404119.1:p.Glu708=
ENST00000485278.5:n.2673A=
NM_001077365.1:c.2123A=	NP_001070833.1:p.Glu708=
NM_001077366.1:c.1961A=	NP_001070834.1:p.Glu654=
NM_001136113.1:c.2123A=	NP_001129585.1:p.Glu708=
NM_001136114.1:c.1772A=	NP_001129586.1:p.Glu591=
NM_007171.3:c.2189A=	NP_009102.3:p.Glu730=
XM_005272156.1:c.2189A=	XP_005272213.1:p.Glu730=
XM_005272158.1:c.2027A=	XP_005272215.1:p.Glu676=
XM_005272159.1:c.1838A=	XP_005272216.1:p.Glu613=
XM_005272162.1:c.992A=	XP_005272219.1:p.Glu331=
XM_006716932.1:c.1838A=	XP_006716995.1:p.Glu613=
XM_011518140.1:c.2042A=	XP_011516442.1:p.Glu681=
XM_011518141.1:c.1976A=	XP_011516443.1:p.Glu659=
XM_011518142.1:c.1880A=	XP_011516444.1:p.Glu627=
XM_011518143.1:c.1874A=	XP_011516445.1:p.Glu625=
XM_011518145.1:c.1733A=	XP_011516447.1:p.Glu578=
XM_011518147.1:c.1061A=	XP_011516449.1:p.Glu354=
XR_929703.1:n.2365A=
NM_001353193.1:c.2189A=	NP_001340122.1:p.Glu730=
NM_001353194.1:c.1961A=	NP_001340123.1:p.Glu654=
NM_001353195.1:c.1772A=	NP_001340124.1:p.Glu591=
NM_001353196.1:c.2033A=	NP_001340125.1:p.Glu678=
NM_001353197.1:c.2027A=	NP_001340126.1:p.Glu676=
NM_001353198.1:c.2027A=	NP_001340127.1:p.Glu676=
NM_001353199.1:c.1838A=	NP_001340128.1:p.Glu613=
NM_001353200.1:c.1667A=	NP_001340129.1:p.Glu556=
NR_148391.1:n.2173A=
NR_148392.1:n.2391A=
NR_148393.1:n.2312A=
NR_148394.1:n.2066A=
NR_148395.1:n.2464A=
NR_148396.1:n.2098A=
NR_148397.1:n.2223A=
NR_148398.1:n.2178A=
NR_148399.1:n.2704A=
NR_148400.1:n.2303A=
XM_005272162.3:c.992A=	XP_005272219.1:p.Glu331=
XM_006716932.2:c.1838A=	XP_006716995.1:p.Glu613=
XM_011518140.2:c.2042A=	XP_011516442.1:p.Glu681=
XM_011518141.2:c.1976A=	XP_011516443.1:p.Glu659=
XM_011518142.2:c.1880A=	XP_011516444.1:p.Glu627=
XM_011518143.2:c.1874A=	XP_011516445.1:p.Glu625=
XM_011518145.2:c.1733A=	XP_011516447.1:p.Glu578=
XM_017014205.2:c.992A=	XP_016869694.1:p.Glu331=
XM_024447380.1:c.992A=	XP_024303148.1:p.Glu331=
XM_024447381.1:c.1298A=	XP_024303149.1:p.Glu433=
XM_024447382.1:c.992A=	XP_024303150.1:p.Glu331=
XR_001746160.2:n.2293A=
XR_001746162.2:n.2498A=
XR_001746164.1:n.2215A=
XR_001746166.2:n.2510A=
NM_001077365.2:c.2123A= MANE Select	NP_001070833.1:p.Glu708=
NM_001077366.2:c.1961A=	NP_001070834.1:p.Glu654=
NM_001136113.2:c.2123A=	NP_001129585.1:p.Glu708=
NM_001136114.2:c.1772A=	NP_001129586.1:p.Glu591=
NM_001353193.2:c.2189A=	NP_001340122.2:p.Glu730=
NM_001353194.2:c.1961A=	NP_001340123.1:p.Glu654=
NM_001353195.2:c.1772A=	NP_001340124.1:p.Glu591=
NM_001353196.2:c.2033A=	NP_001340125.1:p.Glu678=
NM_001353197.2:c.2027A=	NP_001340126.2:p.Glu676=
NM_001353198.2:c.2027A=	NP_001340127.2:p.Glu676=
NM_001353199.2:c.1838A=	NP_001340128.2:p.Glu613=
NM_001353200.2:c.1667A=	NP_001340129.1:p.Glu556=
NM_001374689.1:c.2111A=	NP_001361618.1:p.Glu704=
NM_001374690.1:c.1904A=	NP_001361619.1:p.Glu635=
NM_001374691.1:c.1772A=	NP_001361620.1:p.Glu591=
NM_001374692.1:c.1772A=	NP_001361621.1:p.Glu591=
NM_001374693.1:c.1772A=	NP_001361622.1:p.Glu591=
NM_001374695.1:c.1733A=	NP_001361624.1:p.Glu578=
NM_007171.4:c.2189A=	NP_009102.4:p.Glu730=
NR_148391.2:n.2157A=
NR_148392.2:n.2375A=
NR_148393.2:n.2296A=
NR_148394.2:n.2050A=
NR_148395.2:n.2448A=
NR_148396.2:n.2082A=
NR_148397.2:n.2207A=
NR_148398.2:n.2162A=
NR_148399.2:n.2688A=
NR_148400.2:n.2287A=