Canonical Allele Identifier: CA375315243

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134398414G>C (hg19) ; chr9:g.131523027G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523027G>C , CM000671.2:g.131523027G>C	GRCh38
NC_000009.11:g.134398414G>C , CM000671.1:g.134398414G>C	GRCh37
NC_000009.10:g.133388235G>C	NCBI36
NG_008896.1:g.25126G>C
NG_008896.2:g.25126G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1937G>C	ENSP00000343034.7:p.Gly646Ala
ENST00000404875.7:n.2639G>C
ENST00000423007.6:c.2156G>C	ENSP00000404119.2:p.Gly719Ala
ENST00000677295.2:c.*2443G>C	ENSP00000504346.2:n.*2443G>C
ENST00000678264.2:c.*2282G>C	ENSP00000503157.2:n.*2282G>C
ENST00000682070.1:n.2409G>C
ENST00000682639.1:c.96G>C
ENST00000682813.1:n.2496G>C
ENST00000683231.1:c.96G>C
ENST00000683392.1:n.4691G>C
ENST00000683712.1:n.2504G>C
ENST00000683900.1:n.3999G>C
ENST00000684062.1:n.2765G>C
ENST00000684399.1:c.96G>C
ENST00000684579.1:n.3945G>C
ENST00000341012.12:c.1937G>C	ENSP00000343034.7:p.Gly646Ala
ENST00000372220.5:c.968G>C	ENSP00000361294.5:p.Gly323Ala
ENST00000372228.9:c.2165G>C	ENSP00000361302.3:p.Gly722Ala
ENST00000402686.8:c.2099G>C MANE Select	ENSP00000385797.4:p.Gly700Ala
ENST00000676640.1:c.2099G>C	ENSP00000503281.1:p.Gly700Ala
ENST00000676803.1:c.1160G>C	ENSP00000503093.1:p.Gly387Ala
ENST00000676835.1:c.*1314G>C	ENSP00000502911.1:n.*1314G>C
ENST00000677029.1:c.1643G>C	ENSP00000502936.1:p.Gly548Ala
ENST00000677099.1:c.*1809G>C	ENSP00000504553.1:n.*1809G>C
ENST00000677216.1:c.1748G>C	ENSP00000503772.1:p.Gly583Ala
ENST00000677295.1:c.*1321G>C	ENSP00000504346.1:n.*1321G>C
ENST00000677444.1:c.2044G>C
ENST00000677586.1:n.1466G>C
ENST00000677626.1:c.1748G>C	ENSP00000503552.1:p.Gly583Ala
ENST00000677853.1:c.*1107G>C	ENSP00000503488.1:n.*1107G>C
ENST00000678264.1:c.*1476G>C	ENSP00000503157.1:n.*1476G>C
ENST00000678303.1:c.2009G>C	ENSP00000503696.1:p.Gly670Ala
ENST00000678366.1:c.*2348G>C	ENSP00000504353.1:n.*2348G>C
ENST00000678546.1:c.*2044G>C	ENSP00000503062.1:n.*2044G>C
ENST00000678548.1:c.*2238G>C	ENSP00000503934.1:n.*2238G>C
ENST00000678626.1:n.1935G>C
ENST00000678739.1:c.*2265G>C	ENSP00000503806.1:n.*2265G>C
ENST00000678833.1:c.*1851G>C	ENSP00000503893.1:n.*1851G>C
ENST00000679023.1:c.1937G>C	ENSP00000503718.1:p.Gly646Ala
ENST00000679076.1:c.1718G>C
ENST00000679111.1:c.*855G>C	ENSP00000504257.1:n.*855G>C
ENST00000679189.1:c.1748G>C	ENSP00000503356.1:p.Gly583Ala
ENST00000341012.11:c.1937G>C	ENSP00000343034.7:p.Gly646Ala
ENST00000372220.4:c.962G>C	ENSP00000361294.4:p.Gly321Ala
ENST00000372228.7:c.2165G>C	ENSP00000361302.3:p.Gly722Ala
ENST00000402686.7:c.2099G>C	ENSP00000385797.3:p.Gly700Ala
ENST00000404875.6:c.1748G>C	ENSP00000384531.2:p.Gly583Ala
ENST00000423007.5:c.2099G>C	ENSP00000404119.1:p.Gly700Ala
ENST00000485278.5:n.2649G>C
NM_001077365.1:c.2099G>C	NP_001070833.1:p.Gly700Ala
NM_001077366.1:c.1937G>C	NP_001070834.1:p.Gly646Ala
NM_001136113.1:c.2099G>C	NP_001129585.1:p.Gly700Ala
NM_001136114.1:c.1748G>C	NP_001129586.1:p.Gly583Ala
NM_007171.3:c.2165G>C	NP_009102.3:p.Gly722Ala
XM_005272156.1:c.2165G>C	XP_005272213.1:p.Gly722Ala
XM_005272158.1:c.2003G>C	XP_005272215.1:p.Gly668Ala
XM_005272159.1:c.1814G>C	XP_005272216.1:p.Gly605Ala
XM_005272162.1:c.968G>C	XP_005272219.1:p.Gly323Ala
XM_006716932.1:c.1814G>C	XP_006716995.1:p.Gly605Ala
XM_011518140.1:c.2018G>C	XP_011516442.1:p.Gly673Ala
XM_011518141.1:c.1952G>C	XP_011516443.1:p.Gly651Ala
XM_011518142.1:c.1856G>C	XP_011516444.1:p.Gly619Ala
XM_011518143.1:c.1850G>C	XP_011516445.1:p.Gly617Ala
XM_011518145.1:c.1709G>C	XP_011516447.1:p.Gly570Ala
XM_011518147.1:c.1037G>C	XP_011516449.1:p.Gly346Ala
XR_929703.1:n.2341G>C
NM_001353193.1:c.2165G>C	NP_001340122.1:p.Gly722Ala
NM_001353194.1:c.1937G>C	NP_001340123.1:p.Gly646Ala
NM_001353195.1:c.1748G>C	NP_001340124.1:p.Gly583Ala
NM_001353196.1:c.2009G>C	NP_001340125.1:p.Gly670Ala
NM_001353197.1:c.2003G>C	NP_001340126.1:p.Gly668Ala
NM_001353198.1:c.2003G>C	NP_001340127.1:p.Gly668Ala
NM_001353199.1:c.1814G>C	NP_001340128.1:p.Gly605Ala
NM_001353200.1:c.1643G>C	NP_001340129.1:p.Gly548Ala
NR_148391.1:n.2149G>C
NR_148392.1:n.2367G>C
NR_148393.1:n.2288G>C
NR_148394.1:n.2042G>C
NR_148395.1:n.2440G>C
NR_148396.1:n.2074G>C
NR_148397.1:n.2199G>C
NR_148398.1:n.2154G>C
NR_148399.1:n.2680G>C
NR_148400.1:n.2279G>C
XM_005272162.3:c.968G>C	XP_005272219.1:p.Gly323Ala
XM_006716932.2:c.1814G>C	XP_006716995.1:p.Gly605Ala
XM_011518140.2:c.2018G>C	XP_011516442.1:p.Gly673Ala
XM_011518141.2:c.1952G>C	XP_011516443.1:p.Gly651Ala
XM_011518142.2:c.1856G>C	XP_011516444.1:p.Gly619Ala
XM_011518143.2:c.1850G>C	XP_011516445.1:p.Gly617Ala
XM_011518145.2:c.1709G>C	XP_011516447.1:p.Gly570Ala
XM_017014205.2:c.968G>C	XP_016869694.1:p.Gly323Ala
XM_024447380.1:c.968G>C	XP_024303148.1:p.Gly323Ala
XM_024447381.1:c.1274G>C	XP_024303149.1:p.Gly425Ala
XM_024447382.1:c.968G>C	XP_024303150.1:p.Gly323Ala
XR_001746160.2:n.2269G>C
XR_001746162.2:n.2474G>C
XR_001746164.1:n.2191G>C
XR_001746166.2:n.2486G>C
NM_001077365.2:c.2099G>C MANE Select	NP_001070833.1:p.Gly700Ala
NM_001077366.2:c.1937G>C	NP_001070834.1:p.Gly646Ala
NM_001136113.2:c.2099G>C	NP_001129585.1:p.Gly700Ala
NM_001136114.2:c.1748G>C	NP_001129586.1:p.Gly583Ala
NM_001353193.2:c.2165G>C	NP_001340122.2:p.Gly722Ala
NM_001353194.2:c.1937G>C	NP_001340123.1:p.Gly646Ala
NM_001353195.2:c.1748G>C	NP_001340124.1:p.Gly583Ala
NM_001353196.2:c.2009G>C	NP_001340125.1:p.Gly670Ala
NM_001353197.2:c.2003G>C	NP_001340126.2:p.Gly668Ala
NM_001353198.2:c.2003G>C	NP_001340127.2:p.Gly668Ala
NM_001353199.2:c.1814G>C	NP_001340128.2:p.Gly605Ala
NM_001353200.2:c.1643G>C	NP_001340129.1:p.Gly548Ala
NM_001374689.1:c.2087G>C	NP_001361618.1:p.Gly696Ala
NM_001374690.1:c.1880G>C	NP_001361619.1:p.Gly627Ala
NM_001374691.1:c.1748G>C	NP_001361620.1:p.Gly583Ala
NM_001374692.1:c.1748G>C	NP_001361621.1:p.Gly583Ala
NM_001374693.1:c.1748G>C	NP_001361622.1:p.Gly583Ala
NM_001374695.1:c.1709G>C	NP_001361624.1:p.Gly570Ala
NM_007171.4:c.2165G>C	NP_009102.4:p.Gly722Ala
NR_148391.2:n.2133G>C
NR_148392.2:n.2351G>C
NR_148393.2:n.2272G>C
NR_148394.2:n.2026G>C
NR_148395.2:n.2424G>C
NR_148396.2:n.2058G>C
NR_148397.2:n.2183G>C
NR_148398.2:n.2138G>C
NR_148399.2:n.2664G>C
NR_148400.2:n.2263G>C