Canonical Allele Identifier: CA2692221440

Gene: POMT1

Linked Data

• gnomAD v4: 9-131522989-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522990dup , CM000671.2:g.131522990dup	GRCh38
NC_000009.11:g.134398377dup , CM000671.1:g.134398377dup	GRCh37
NC_000009.10:g.133388198dup	NCBI36
NG_008896.1:g.25089dup
NG_008896.2:g.25089dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1900dup	ENSP00000343034.7:p.Cys634LeufsTer21
ENST00000404875.7:n.2602dup
ENST00000423007.6:c.2119dup	ENSP00000404119.2:p.Cys707LeufsTer21
ENST00000677295.2:c.*2406dup	ENSP00000504346.2:n.*2406dup
ENST00000678264.2:c.*2245dup	ENSP00000503157.2:n.*2245dup
ENST00000682070.1:n.2372dup
ENST00000682639.1:c.59dup
ENST00000682813.1:n.2459dup
ENST00000683231.1:c.59dup
ENST00000683392.1:n.4654dup
ENST00000683712.1:n.2467dup
ENST00000683900.1:n.3962dup
ENST00000684062.1:n.2728dup
ENST00000684399.1:c.59dup
ENST00000684579.1:n.3908dup
ENST00000341012.12:c.1900dup	ENSP00000343034.7:p.Cys634LeufsTer21
ENST00000372220.5:c.931dup	ENSP00000361294.5:p.Cys311LeufsTer21
ENST00000372228.9:c.2128dup	ENSP00000361302.3:p.Cys710LeufsTer21
ENST00000402686.8:c.2062dup MANE Select	ENSP00000385797.4:p.Cys688LeufsTer21
ENST00000676640.1:c.2062dup	ENSP00000503281.1:p.Cys688LeufsTer21
ENST00000676803.1:c.1123dup	ENSP00000503093.1:p.Cys375LeufsTer21
ENST00000676835.1:c.*1277dup	ENSP00000502911.1:n.*1277dup
ENST00000677029.1:c.1606dup	ENSP00000502936.1:p.Cys536LeufsTer21
ENST00000677099.1:c.*1772dup	ENSP00000504553.1:n.*1772dup
ENST00000677216.1:c.1711dup	ENSP00000503772.1:p.Cys571LeufsTer21
ENST00000677221.1:n.1087dup
ENST00000677295.1:c.*1284dup	ENSP00000504346.1:n.*1284dup
ENST00000677444.1:c.2007dup
ENST00000677586.1:n.1429dup
ENST00000677626.1:c.1711dup	ENSP00000503552.1:p.Cys571LeufsTer21
ENST00000677853.1:c.*1070dup	ENSP00000503488.1:n.*1070dup
ENST00000678264.1:c.*1439dup	ENSP00000503157.1:n.*1439dup
ENST00000678303.1:c.1972dup	ENSP00000503696.1:p.Cys658LeufsTer21
ENST00000678366.1:c.*2311dup	ENSP00000504353.1:n.*2311dup
ENST00000678546.1:c.*2007dup	ENSP00000503062.1:n.*2007dup
ENST00000678548.1:c.*2201dup	ENSP00000503934.1:n.*2201dup
ENST00000678626.1:n.1898dup
ENST00000678739.1:c.*2228dup	ENSP00000503806.1:n.*2228dup
ENST00000678833.1:c.*1814dup	ENSP00000503893.1:n.*1814dup
ENST00000679023.1:c.1900dup	ENSP00000503718.1:p.Cys634LeufsTer21
ENST00000679076.1:c.1681dup
ENST00000679111.1:c.*818dup	ENSP00000504257.1:n.*818dup
ENST00000679189.1:c.1711dup	ENSP00000503356.1:p.Cys571LeufsTer21
ENST00000341012.11:c.1900dup	ENSP00000343034.7:p.Cys634LeufsTer21
ENST00000372220.4:c.925dup	ENSP00000361294.4:p.Cys309LeufsTer21
ENST00000372228.7:c.2128dup	ENSP00000361302.3:p.Cys710LeufsTer21
ENST00000402686.7:c.2062dup	ENSP00000385797.3:p.Cys688LeufsTer21
ENST00000404875.6:c.1711dup	ENSP00000384531.2:p.Cys571LeufsTer21
ENST00000423007.5:c.2062dup	ENSP00000404119.1:p.Cys688LeufsTer21
ENST00000485278.5:n.2612dup
NM_001077365.1:c.2062dup	NP_001070833.1:p.Cys688LeufsTer21
NM_001077366.1:c.1900dup	NP_001070834.1:p.Cys634LeufsTer21
NM_001136113.1:c.2062dup	NP_001129585.1:p.Cys688LeufsTer21
NM_001136114.1:c.1711dup	NP_001129586.1:p.Cys571LeufsTer21
NM_007171.3:c.2128dup	NP_009102.3:p.Cys710LeufsTer21
XM_005272156.1:c.2128dup	XP_005272213.1:p.Cys710LeufsTer21
XM_005272158.1:c.1966dup	XP_005272215.1:p.Cys656LeufsTer21
XM_005272159.1:c.1777dup	XP_005272216.1:p.Cys593LeufsTer21
XM_005272162.1:c.931dup	XP_005272219.1:p.Cys311LeufsTer21
XM_006716932.1:c.1777dup	XP_006716995.1:p.Cys593LeufsTer21
XM_011518140.1:c.1981dup	XP_011516442.1:p.Cys661LeufsTer21
XM_011518141.1:c.1915dup	XP_011516443.1:p.Cys639LeufsTer21
XM_011518142.1:c.1819dup	XP_011516444.1:p.Cys607LeufsTer21
XM_011518143.1:c.1813dup	XP_011516445.1:p.Cys605LeufsTer21
XM_011518145.1:c.1672dup	XP_011516447.1:p.Cys558LeufsTer21
XM_011518147.1:c.1000dup	XP_011516449.1:p.Cys334LeufsTer21
XR_929703.1:n.2304dup
NM_001353193.1:c.2128dup	NP_001340122.1:p.Cys710LeufsTer21
NM_001353194.1:c.1900dup	NP_001340123.1:p.Cys634LeufsTer21
NM_001353195.1:c.1711dup	NP_001340124.1:p.Cys571LeufsTer21
NM_001353196.1:c.1972dup	NP_001340125.1:p.Cys658LeufsTer21
NM_001353197.1:c.1966dup	NP_001340126.1:p.Cys656LeufsTer21
NM_001353198.1:c.1966dup	NP_001340127.1:p.Cys656LeufsTer21
NM_001353199.1:c.1777dup	NP_001340128.1:p.Cys593LeufsTer21
NM_001353200.1:c.1606dup	NP_001340129.1:p.Cys536LeufsTer21
NR_148391.1:n.2112dup
NR_148392.1:n.2330dup
NR_148393.1:n.2251dup
NR_148394.1:n.2005dup
NR_148395.1:n.2403dup
NR_148396.1:n.2037dup
NR_148397.1:n.2162dup
NR_148398.1:n.2117dup
NR_148399.1:n.2643dup
NR_148400.1:n.2242dup
XM_005272162.3:c.931dup	XP_005272219.1:p.Cys311LeufsTer21
XM_006716932.2:c.1777dup	XP_006716995.1:p.Cys593LeufsTer21
XM_011518140.2:c.1981dup	XP_011516442.1:p.Cys661LeufsTer21
XM_011518141.2:c.1915dup	XP_011516443.1:p.Cys639LeufsTer21
XM_011518142.2:c.1819dup	XP_011516444.1:p.Cys607LeufsTer21
XM_011518143.2:c.1813dup	XP_011516445.1:p.Cys605LeufsTer21
XM_011518145.2:c.1672dup	XP_011516447.1:p.Cys558LeufsTer21
XM_017014205.2:c.931dup	XP_016869694.1:p.Cys311LeufsTer21
XM_024447380.1:c.931dup	XP_024303148.1:p.Cys311LeufsTer21
XM_024447381.1:c.1237dup	XP_024303149.1:p.Cys413LeufsTer21
XM_024447382.1:c.931dup	XP_024303150.1:p.Cys311LeufsTer21
XR_001746160.2:n.2232dup
XR_001746162.2:n.2437dup
XR_001746164.1:n.2154dup
XR_001746166.2:n.2449dup
NM_001077365.2:c.2062dup MANE Select	NP_001070833.1:p.Cys688LeufsTer21
NM_001077366.2:c.1900dup	NP_001070834.1:p.Cys634LeufsTer21
NM_001136113.2:c.2062dup	NP_001129585.1:p.Cys688LeufsTer21
NM_001136114.2:c.1711dup	NP_001129586.1:p.Cys571LeufsTer21
NM_001353193.2:c.2128dup	NP_001340122.2:p.Cys710LeufsTer21
NM_001353194.2:c.1900dup	NP_001340123.1:p.Cys634LeufsTer21
NM_001353195.2:c.1711dup	NP_001340124.1:p.Cys571LeufsTer21
NM_001353196.2:c.1972dup	NP_001340125.1:p.Cys658LeufsTer21
NM_001353197.2:c.1966dup	NP_001340126.2:p.Cys656LeufsTer21
NM_001353198.2:c.1966dup	NP_001340127.2:p.Cys656LeufsTer21
NM_001353199.2:c.1777dup	NP_001340128.2:p.Cys593LeufsTer21
NM_001353200.2:c.1606dup	NP_001340129.1:p.Cys536LeufsTer21
NM_001374689.1:c.2050dup	NP_001361618.1:p.Cys684LeufsTer21
NM_001374690.1:c.1843dup	NP_001361619.1:p.Cys615LeufsTer21
NM_001374691.1:c.1711dup	NP_001361620.1:p.Cys571LeufsTer21
NM_001374692.1:c.1711dup	NP_001361621.1:p.Cys571LeufsTer21
NM_001374693.1:c.1711dup	NP_001361622.1:p.Cys571LeufsTer21
NM_001374695.1:c.1672dup	NP_001361624.1:p.Cys558LeufsTer21
NM_007171.4:c.2128dup	NP_009102.4:p.Cys710LeufsTer21
NR_148391.2:n.2096dup
NR_148392.2:n.2314dup
NR_148393.2:n.2235dup
NR_148394.2:n.1989dup
NR_148395.2:n.2387dup
NR_148396.2:n.2021dup
NR_148397.2:n.2146dup
NR_148398.2:n.2101dup
NR_148399.2:n.2627dup
NR_148400.2:n.2226dup