Canonical Allele Identifier: CA375315326

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134398438A>C (hg19) ; chr9:g.131523051A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1961A>C	ENSP00000343034.7:p.Glu654Ala
ENST00000404875.7:n.2663A>C
ENST00000423007.6:c.2180A>C	ENSP00000404119.2:p.Glu727Ala
ENST00000677295.2:c.*2467A>C	ENSP00000504346.2:n.*2467A>C
ENST00000678264.2:c.*2306A>C	ENSP00000503157.2:n.*2306A>C
ENST00000682070.1:n.2433A>C
ENST00000682639.1:c.120A>C
ENST00000682813.1:n.2520A>C
ENST00000683231.1:c.120A>C
ENST00000683392.1:n.4715A>C
ENST00000683712.1:n.2528A>C
ENST00000683900.1:n.4023A>C
ENST00000684062.1:n.2789A>C
ENST00000684399.1:c.120A>C
ENST00000684579.1:n.3969A>C
ENST00000341012.12:c.1961A>C	ENSP00000343034.7:p.Glu654Ala
ENST00000372220.5:c.992A>C	ENSP00000361294.5:p.Glu331Ala
ENST00000372228.9:c.2189A>C	ENSP00000361302.3:p.Glu730Ala
ENST00000402686.8:c.2123A>C MANE Select	ENSP00000385797.4:p.Glu708Ala
ENST00000676640.1:c.2123A>C	ENSP00000503281.1:p.Glu708Ala
ENST00000676803.1:c.1184A>C	ENSP00000503093.1:p.Glu395Ala
ENST00000676835.1:c.*1338A>C	ENSP00000502911.1:n.*1338A>C
ENST00000677029.1:c.1667A>C	ENSP00000502936.1:p.Glu556Ala
ENST00000677099.1:c.*1833A>C	ENSP00000504553.1:n.*1833A>C
ENST00000677216.1:c.1772A>C	ENSP00000503772.1:p.Glu591Ala
ENST00000677295.1:c.*1345A>C	ENSP00000504346.1:n.*1345A>C
ENST00000677444.1:c.2068A>C
ENST00000677586.1:n.1490A>C
ENST00000677626.1:c.1772A>C	ENSP00000503552.1:p.Glu591Ala
ENST00000677853.1:c.*1131A>C	ENSP00000503488.1:n.*1131A>C
ENST00000678264.1:c.*1500A>C	ENSP00000503157.1:n.*1500A>C
ENST00000678303.1:c.2033A>C	ENSP00000503696.1:p.Glu678Ala
ENST00000678366.1:c.*2372A>C	ENSP00000504353.1:n.*2372A>C
ENST00000678546.1:c.*2068A>C	ENSP00000503062.1:n.*2068A>C
ENST00000678548.1:c.*2262A>C	ENSP00000503934.1:n.*2262A>C
ENST00000678626.1:n.1959A>C
ENST00000678739.1:c.*2289A>C	ENSP00000503806.1:n.*2289A>C
ENST00000678833.1:c.*1875A>C	ENSP00000503893.1:n.*1875A>C
ENST00000679023.1:c.1961A>C	ENSP00000503718.1:p.Glu654Ala
ENST00000679076.1:c.1742A>C
ENST00000679111.1:c.*879A>C	ENSP00000504257.1:n.*879A>C
ENST00000679189.1:c.1772A>C	ENSP00000503356.1:p.Glu591Ala
ENST00000341012.11:c.1961A>C	ENSP00000343034.7:p.Glu654Ala
ENST00000372220.4:c.986A>C	ENSP00000361294.4:p.Glu329Ala
ENST00000372228.7:c.2189A>C	ENSP00000361302.3:p.Glu730Ala
ENST00000402686.7:c.2123A>C	ENSP00000385797.3:p.Glu708Ala
ENST00000404875.6:c.1772A>C	ENSP00000384531.2:p.Glu591Ala
ENST00000423007.5:c.2123A>C	ENSP00000404119.1:p.Glu708Ala
ENST00000485278.5:n.2673A>C
NM_001077365.1:c.2123A>C	NP_001070833.1:p.Glu708Ala
NM_001077366.1:c.1961A>C	NP_001070834.1:p.Glu654Ala
NM_001136113.1:c.2123A>C	NP_001129585.1:p.Glu708Ala
NM_001136114.1:c.1772A>C	NP_001129586.1:p.Glu591Ala
NM_007171.3:c.2189A>C	NP_009102.3:p.Glu730Ala
XM_005272156.1:c.2189A>C	XP_005272213.1:p.Glu730Ala
XM_005272158.1:c.2027A>C	XP_005272215.1:p.Glu676Ala
XM_005272159.1:c.1838A>C	XP_005272216.1:p.Glu613Ala
XM_005272162.1:c.992A>C	XP_005272219.1:p.Glu331Ala
XM_006716932.1:c.1838A>C	XP_006716995.1:p.Glu613Ala
XM_011518140.1:c.2042A>C	XP_011516442.1:p.Glu681Ala
XM_011518141.1:c.1976A>C	XP_011516443.1:p.Glu659Ala
XM_011518142.1:c.1880A>C	XP_011516444.1:p.Glu627Ala
XM_011518143.1:c.1874A>C	XP_011516445.1:p.Glu625Ala
XM_011518145.1:c.1733A>C	XP_011516447.1:p.Glu578Ala
XM_011518147.1:c.1061A>C	XP_011516449.1:p.Glu354Ala
XR_929703.1:n.2365A>C
NM_001353193.1:c.2189A>C	NP_001340122.1:p.Glu730Ala
NM_001353194.1:c.1961A>C	NP_001340123.1:p.Glu654Ala
NM_001353195.1:c.1772A>C	NP_001340124.1:p.Glu591Ala
NM_001353196.1:c.2033A>C	NP_001340125.1:p.Glu678Ala
NM_001353197.1:c.2027A>C	NP_001340126.1:p.Glu676Ala
NM_001353198.1:c.2027A>C	NP_001340127.1:p.Glu676Ala
NM_001353199.1:c.1838A>C	NP_001340128.1:p.Glu613Ala
NM_001353200.1:c.1667A>C	NP_001340129.1:p.Glu556Ala
NR_148391.1:n.2173A>C
NR_148392.1:n.2391A>C
NR_148393.1:n.2312A>C
NR_148394.1:n.2066A>C
NR_148395.1:n.2464A>C
NR_148396.1:n.2098A>C
NR_148397.1:n.2223A>C
NR_148398.1:n.2178A>C
NR_148399.1:n.2704A>C
NR_148400.1:n.2303A>C
XM_005272162.3:c.992A>C	XP_005272219.1:p.Glu331Ala
XM_006716932.2:c.1838A>C	XP_006716995.1:p.Glu613Ala
XM_011518140.2:c.2042A>C	XP_011516442.1:p.Glu681Ala
XM_011518141.2:c.1976A>C	XP_011516443.1:p.Glu659Ala
XM_011518142.2:c.1880A>C	XP_011516444.1:p.Glu627Ala
XM_011518143.2:c.1874A>C	XP_011516445.1:p.Glu625Ala
XM_011518145.2:c.1733A>C	XP_011516447.1:p.Glu578Ala
XM_017014205.2:c.992A>C	XP_016869694.1:p.Glu331Ala
XM_024447380.1:c.992A>C	XP_024303148.1:p.Glu331Ala
XM_024447381.1:c.1298A>C	XP_024303149.1:p.Glu433Ala
XM_024447382.1:c.992A>C	XP_024303150.1:p.Glu331Ala
XR_001746160.2:n.2293A>C
XR_001746162.2:n.2498A>C
XR_001746164.1:n.2215A>C
XR_001746166.2:n.2510A>C
NM_001077365.2:c.2123A>C MANE Select	NP_001070833.1:p.Glu708Ala
NM_001077366.2:c.1961A>C	NP_001070834.1:p.Glu654Ala
NM_001136113.2:c.2123A>C	NP_001129585.1:p.Glu708Ala
NM_001136114.2:c.1772A>C	NP_001129586.1:p.Glu591Ala
NM_001353193.2:c.2189A>C	NP_001340122.2:p.Glu730Ala
NM_001353194.2:c.1961A>C	NP_001340123.1:p.Glu654Ala
NM_001353195.2:c.1772A>C	NP_001340124.1:p.Glu591Ala
NM_001353196.2:c.2033A>C	NP_001340125.1:p.Glu678Ala
NM_001353197.2:c.2027A>C	NP_001340126.2:p.Glu676Ala
NM_001353198.2:c.2027A>C	NP_001340127.2:p.Glu676Ala
NM_001353199.2:c.1838A>C	NP_001340128.2:p.Glu613Ala
NM_001353200.2:c.1667A>C	NP_001340129.1:p.Glu556Ala
NM_001374689.1:c.2111A>C	NP_001361618.1:p.Glu704Ala
NM_001374690.1:c.1904A>C	NP_001361619.1:p.Glu635Ala
NM_001374691.1:c.1772A>C	NP_001361620.1:p.Glu591Ala
NM_001374692.1:c.1772A>C	NP_001361621.1:p.Glu591Ala
NM_001374693.1:c.1772A>C	NP_001361622.1:p.Glu591Ala
NM_001374695.1:c.1733A>C	NP_001361624.1:p.Glu578Ala
NM_007171.4:c.2189A>C	NP_009102.4:p.Glu730Ala
NR_148391.2:n.2157A>C
NR_148392.2:n.2375A>C
NR_148393.2:n.2296A>C
NR_148394.2:n.2050A>C
NR_148395.2:n.2448A>C
NR_148396.2:n.2082A>C
NR_148397.2:n.2207A>C
NR_148398.2:n.2162A>C
NR_148399.2:n.2688A>C
NR_148400.2:n.2287A>C