Canonical Allele Identifier: CA467424229

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134398448C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523061C>A , CM000671.2:g.131523061C>A	GRCh38
NC_000009.11:g.134398448C>A , CM000671.1:g.134398448C>A	GRCh37
NC_000009.10:g.133388269C>A	NCBI36
NG_008896.1:g.25160C>A
NG_008896.2:g.25160C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1971C>A	ENSP00000343034.7:p.Ala657=
ENST00000404875.7:n.2673C>A
ENST00000423007.6:c.2190C>A	ENSP00000404119.2:p.Ala730=
ENST00000677295.2:c.*2477C>A	ENSP00000504346.2:n.*2477C>A
ENST00000678264.2:c.*2316C>A	ENSP00000503157.2:n.*2316C>A
ENST00000682070.1:n.2443C>A
ENST00000682639.1:c.130C>A
ENST00000682813.1:n.2530C>A
ENST00000683231.1:c.130C>A
ENST00000683392.1:n.4725C>A
ENST00000683712.1:n.2538C>A
ENST00000683900.1:n.4033C>A
ENST00000684062.1:n.2799C>A
ENST00000684399.1:c.130C>A
ENST00000684579.1:n.3979C>A
ENST00000341012.12:c.1971C>A	ENSP00000343034.7:p.Ala657=
ENST00000372220.5:c.1002C>A	ENSP00000361294.5:p.Ala334=
ENST00000372228.9:c.2199C>A	ENSP00000361302.3:p.Ala733=
ENST00000402686.8:c.2133C>A MANE Select	ENSP00000385797.4:p.Ala711=
ENST00000676640.1:c.2133C>A	ENSP00000503281.1:p.Ala711=
ENST00000676803.1:c.1194C>A	ENSP00000503093.1:p.Ala398=
ENST00000676835.1:c.*1348C>A	ENSP00000502911.1:n.*1348C>A
ENST00000677029.1:c.1677C>A	ENSP00000502936.1:p.Ala559=
ENST00000677099.1:c.*1843C>A	ENSP00000504553.1:n.*1843C>A
ENST00000677216.1:c.1782C>A	ENSP00000503772.1:p.Ala594=
ENST00000677295.1:c.*1355C>A	ENSP00000504346.1:n.*1355C>A
ENST00000677444.1:c.2078C>A
ENST00000677586.1:n.1500C>A
ENST00000677626.1:c.1782C>A	ENSP00000503552.1:p.Ala594=
ENST00000677853.1:c.*1141C>A	ENSP00000503488.1:n.*1141C>A
ENST00000678264.1:c.*1510C>A	ENSP00000503157.1:n.*1510C>A
ENST00000678303.1:c.2043C>A	ENSP00000503696.1:p.Ala681=
ENST00000678366.1:c.*2382C>A	ENSP00000504353.1:n.*2382C>A
ENST00000678546.1:c.*2078C>A	ENSP00000503062.1:n.*2078C>A
ENST00000678548.1:c.*2272C>A	ENSP00000503934.1:n.*2272C>A
ENST00000678626.1:n.1969C>A
ENST00000678739.1:c.*2299C>A	ENSP00000503806.1:n.*2299C>A
ENST00000678833.1:c.*1885C>A	ENSP00000503893.1:n.*1885C>A
ENST00000679023.1:c.1971C>A	ENSP00000503718.1:p.Ala657=
ENST00000679076.1:c.1752C>A
ENST00000679111.1:c.*889C>A	ENSP00000504257.1:n.*889C>A
ENST00000679189.1:c.1782C>A	ENSP00000503356.1:p.Ala594=
ENST00000341012.11:c.1971C>A	ENSP00000343034.7:p.Ala657=
ENST00000372220.4:c.996C>A	ENSP00000361294.4:p.Ala332=
ENST00000372228.7:c.2199C>A	ENSP00000361302.3:p.Ala733=
ENST00000402686.7:c.2133C>A	ENSP00000385797.3:p.Ala711=
ENST00000404875.6:c.1782C>A	ENSP00000384531.2:p.Ala594=
ENST00000423007.5:c.2133C>A	ENSP00000404119.1:p.Ala711=
ENST00000485278.5:n.2683C>A
NM_001077365.1:c.2133C>A	NP_001070833.1:p.Ala711=
NM_001077366.1:c.1971C>A	NP_001070834.1:p.Ala657=
NM_001136113.1:c.2133C>A	NP_001129585.1:p.Ala711=
NM_001136114.1:c.1782C>A	NP_001129586.1:p.Ala594=
NM_007171.3:c.2199C>A	NP_009102.3:p.Ala733=
XM_005272156.1:c.2199C>A	XP_005272213.1:p.Ala733=
XM_005272158.1:c.2037C>A	XP_005272215.1:p.Ala679=
XM_005272159.1:c.1848C>A	XP_005272216.1:p.Ala616=
XM_005272162.1:c.1002C>A	XP_005272219.1:p.Ala334=
XM_006716932.1:c.1848C>A	XP_006716995.1:p.Ala616=
XM_011518140.1:c.2052C>A	XP_011516442.1:p.Ala684=
XM_011518141.1:c.1986C>A	XP_011516443.1:p.Ala662=
XM_011518142.1:c.1890C>A	XP_011516444.1:p.Ala630=
XM_011518143.1:c.1884C>A	XP_011516445.1:p.Ala628=
XM_011518145.1:c.1743C>A	XP_011516447.1:p.Ala581=
XM_011518147.1:c.1071C>A	XP_011516449.1:p.Ala357=
XR_929703.1:n.2375C>A
NM_001353193.1:c.2199C>A	NP_001340122.1:p.Ala733=
NM_001353194.1:c.1971C>A	NP_001340123.1:p.Ala657=
NM_001353195.1:c.1782C>A	NP_001340124.1:p.Ala594=
NM_001353196.1:c.2043C>A	NP_001340125.1:p.Ala681=
NM_001353197.1:c.2037C>A	NP_001340126.1:p.Ala679=
NM_001353198.1:c.2037C>A	NP_001340127.1:p.Ala679=
NM_001353199.1:c.1848C>A	NP_001340128.1:p.Ala616=
NM_001353200.1:c.1677C>A	NP_001340129.1:p.Ala559=
NR_148391.1:n.2183C>A
NR_148392.1:n.2401C>A
NR_148393.1:n.2322C>A
NR_148394.1:n.2076C>A
NR_148395.1:n.2474C>A
NR_148396.1:n.2108C>A
NR_148397.1:n.2233C>A
NR_148398.1:n.2188C>A
NR_148399.1:n.2714C>A
NR_148400.1:n.2313C>A
XM_005272162.3:c.1002C>A	XP_005272219.1:p.Ala334=
XM_006716932.2:c.1848C>A	XP_006716995.1:p.Ala616=
XM_011518140.2:c.2052C>A	XP_011516442.1:p.Ala684=
XM_011518141.2:c.1986C>A	XP_011516443.1:p.Ala662=
XM_011518142.2:c.1890C>A	XP_011516444.1:p.Ala630=
XM_011518143.2:c.1884C>A	XP_011516445.1:p.Ala628=
XM_011518145.2:c.1743C>A	XP_011516447.1:p.Ala581=
XM_017014205.2:c.1002C>A	XP_016869694.1:p.Ala334=
XM_024447380.1:c.1002C>A	XP_024303148.1:p.Ala334=
XM_024447381.1:c.1308C>A	XP_024303149.1:p.Ala436=
XM_024447382.1:c.1002C>A	XP_024303150.1:p.Ala334=
XR_001746160.2:n.2303C>A
XR_001746162.2:n.2508C>A
XR_001746164.1:n.2225C>A
XR_001746166.2:n.2520C>A
NM_001077365.2:c.2133C>A MANE Select	NP_001070833.1:p.Ala711=
NM_001077366.2:c.1971C>A	NP_001070834.1:p.Ala657=
NM_001136113.2:c.2133C>A	NP_001129585.1:p.Ala711=
NM_001136114.2:c.1782C>A	NP_001129586.1:p.Ala594=
NM_001353193.2:c.2199C>A	NP_001340122.2:p.Ala733=
NM_001353194.2:c.1971C>A	NP_001340123.1:p.Ala657=
NM_001353195.2:c.1782C>A	NP_001340124.1:p.Ala594=
NM_001353196.2:c.2043C>A	NP_001340125.1:p.Ala681=
NM_001353197.2:c.2037C>A	NP_001340126.2:p.Ala679=
NM_001353198.2:c.2037C>A	NP_001340127.2:p.Ala679=
NM_001353199.2:c.1848C>A	NP_001340128.2:p.Ala616=
NM_001353200.2:c.1677C>A	NP_001340129.1:p.Ala559=
NM_001374689.1:c.2121C>A	NP_001361618.1:p.Ala707=
NM_001374690.1:c.1914C>A	NP_001361619.1:p.Ala638=
NM_001374691.1:c.1782C>A	NP_001361620.1:p.Ala594=
NM_001374692.1:c.1782C>A	NP_001361621.1:p.Ala594=
NM_001374693.1:c.1782C>A	NP_001361622.1:p.Ala594=
NM_001374695.1:c.1743C>A	NP_001361624.1:p.Ala581=
NM_007171.4:c.2199C>A	NP_009102.4:p.Ala733=
NR_148391.2:n.2167C>A
NR_148392.2:n.2385C>A
NR_148393.2:n.2306C>A
NR_148394.2:n.2060C>A
NR_148395.2:n.2458C>A
NR_148396.2:n.2092C>A
NR_148397.2:n.2217C>A
NR_148398.2:n.2172C>A
NR_148399.2:n.2698C>A
NR_148400.2:n.2297C>A