Canonical Allele Identifier: CA2740092903

Gene: POMT1

Linked Data

• ClinVar Variation Id: 2951161
• ClinVar RCV Id: RCV003802423

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522068_131522086dup , CM000671.2:g.131522068_131522086dup	GRCh38
NC_000009.11:g.134397455_134397473dup , CM000671.1:g.134397455_134397473dup	GRCh37
NC_000009.10:g.133387276_133387294dup	NCBI36
NG_008896.1:g.24167_24185dup
NG_008896.2:g.24167_24185dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.1685_1703dup	ENSP00000343034.7:p.Gly570TrpfsTer?
ENST00000404875.7:n.2387_2405dup
ENST00000423007.6:c.1904_1922dup	ENSP00000404119.2:p.Gly643TrpfsTer?
ENST00000677295.2:c.*2191_*2209dup	ENSP00000504346.2:n.*2191_*2209dup
ENST00000678264.2:c.*2030_*2048dup	ENSP00000503157.2:n.*2030_*2048dup
ENST00000682070.1:n.2291-134_2291-116dup
ENST00000682813.1:n.2251_2269dup
ENST00000683392.1:n.4573-134_4573-116dup
ENST00000683712.1:n.2252_2270dup
ENST00000683900.1:n.3747_3765dup
ENST00000684062.1:n.2513_2531dup
ENST00000684579.1:n.3693_3711dup
ENST00000684679.1:n.1074_1092dup
ENST00000341012.12:c.1685_1703dup	ENSP00000343034.7:p.Gly570TrpfsTer?
ENST00000372220.5:c.716_734dup	ENSP00000361294.5:p.Gly247TrpfsTer?
ENST00000372228.9:c.1913_1931dup	ENSP00000361302.3:p.Gly646TrpfsTer?
ENST00000402686.8:c.1847_1865dup MANE Select	ENSP00000385797.4:p.Gly624TrpfsTer?
ENST00000676640.1:c.1847_1865dup	ENSP00000503281.1:p.Gly624TrpfsTer?
ENST00000676803.1:c.908_926dup	ENSP00000503093.1:p.Gly311TrpfsTer?
ENST00000676835.1:c.*1062_*1080dup	ENSP00000502911.1:n.*1062_*1080dup
ENST00000677029.1:c.1391_1409dup	ENSP00000502936.1:p.Gly472TrpfsTer?
ENST00000677099.1:c.*1557_*1575dup	ENSP00000504553.1:n.*1557_*1575dup
ENST00000677216.1:c.1496_1514dup	ENSP00000503772.1:p.Gly507TrpfsTer?
ENST00000677221.1:n.872_890dup
ENST00000677295.1:c.*1203-134_*1203-116dup	ENSP00000504346.1:n.*1203-134_*1203-116du...
ENST00000677444.1:c.1792_1810dup
ENST00000677586.1:n.1214_1232dup
ENST00000677626.1:c.1496_1514dup	ENSP00000503552.1:p.Gly507TrpfsTer?
ENST00000677853.1:c.*855_*873dup	ENSP00000503488.1:n.*855_*873dup
ENST00000678202.1:n.1006_1024dup
ENST00000678264.1:c.*1224_*1242dup	ENSP00000503157.1:n.*1224_*1242dup
ENST00000678303.1:c.1757_1775dup	ENSP00000503696.1:p.Gly594TrpfsTer?
ENST00000678366.1:c.*2096_*2114dup	ENSP00000504353.1:n.*2096_*2114dup
ENST00000678546.1:c.*1792_*1810dup	ENSP00000503062.1:n.*1792_*1810dup
ENST00000678548.1:c.*1986_*2004dup	ENSP00000503934.1:n.*1986_*2004dup
ENST00000678626.1:n.1683_1701dup
ENST00000678739.1:c.*2147-134_*2147-116dup	ENSP00000503806.1:n.*2147-134_*2147-116du...
ENST00000678833.1:c.*1599_*1617dup	ENSP00000503893.1:n.*1599_*1617dup
ENST00000679023.1:c.1685_1703dup	ENSP00000503718.1:p.Gly570TrpfsTer?
ENST00000679076.1:c.1466_1484dup
ENST00000679111.1:c.*603_*621dup	ENSP00000504257.1:n.*603_*621dup
ENST00000679189.1:c.1496_1514dup	ENSP00000503356.1:p.Gly507TrpfsTer?
ENST00000341012.11:c.1685_1703dup	ENSP00000343034.7:p.Gly570TrpfsTer?
ENST00000372220.4:c.710_728dup	ENSP00000361294.4:p.Gly245TrpfsTer?
ENST00000372228.7:c.1913_1931dup	ENSP00000361302.3:p.Gly646TrpfsTer?
ENST00000402686.7:c.1847_1865dup	ENSP00000385797.3:p.Gly624TrpfsTer?
ENST00000404875.6:c.1496_1514dup	ENSP00000384531.2:p.Gly507TrpfsTer?
ENST00000423007.5:c.1847_1865dup	ENSP00000404119.1:p.Gly624TrpfsTer?
ENST00000485278.5:n.2397_2415dup
ENST00000494883.1:n.390_408dup
NM_001077365.1:c.1847_1865dup	NP_001070833.1:p.Gly624TrpfsTer?
NM_001077366.1:c.1685_1703dup	NP_001070834.1:p.Gly570TrpfsTer?
NM_001136113.1:c.1847_1865dup	NP_001129585.1:p.Gly624TrpfsTer?
NM_001136114.1:c.1496_1514dup	NP_001129586.1:p.Gly507TrpfsTer?
NM_007171.3:c.1913_1931dup	NP_009102.3:p.Gly646TrpfsTer?
XM_005272156.1:c.1913_1931dup	XP_005272213.1:p.Gly646TrpfsTer?
XM_005272158.1:c.1751_1769dup	XP_005272215.1:p.Gly592TrpfsTer?
XM_005272159.1:c.1562_1580dup	XP_005272216.1:p.Gly529TrpfsTer?
XM_005272162.1:c.716_734dup	XP_005272219.1:p.Gly247TrpfsTer?
XM_006716932.1:c.1562_1580dup	XP_006716995.1:p.Gly529TrpfsTer?
XM_011518140.1:c.1766_1784dup	XP_011516442.1:p.Gly597TrpfsTer?
XM_011518141.1:c.1700_1718dup	XP_011516443.1:p.Gly575TrpfsTer?
XM_011518142.1:c.1604_1622dup	XP_011516444.1:p.Gly543TrpfsTer?
XM_011518143.1:c.1598_1616dup	XP_011516445.1:p.Gly541TrpfsTer?
XM_011518145.1:c.1457_1475dup	XP_011516447.1:p.Gly494TrpfsTer?
XM_011518147.1:c.785_803dup	XP_011516449.1:p.Gly270TrpfsTer?
XR_929703.1:n.2089_2107dup
NM_001353193.1:c.1913_1931dup	NP_001340122.1:p.Gly646TrpfsTer?
NM_001353194.1:c.1685_1703dup	NP_001340123.1:p.Gly570TrpfsTer?
NM_001353195.1:c.1496_1514dup	NP_001340124.1:p.Gly507TrpfsTer?
NM_001353196.1:c.1757_1775dup	NP_001340125.1:p.Gly594TrpfsTer?
NM_001353197.1:c.1751_1769dup	NP_001340126.1:p.Gly592TrpfsTer?
NM_001353198.1:c.1751_1769dup	NP_001340127.1:p.Gly592TrpfsTer?
NM_001353199.1:c.1562_1580dup	NP_001340128.1:p.Gly529TrpfsTer?
NM_001353200.1:c.1391_1409dup	NP_001340129.1:p.Gly472TrpfsTer?
NR_148391.1:n.1897_1915dup
NR_148392.1:n.2115_2133dup
NR_148393.1:n.2036_2054dup
NR_148394.1:n.1790_1808dup
NR_148395.1:n.2188_2206dup
NR_148396.1:n.1822_1840dup
NR_148397.1:n.1947_1965dup
NR_148398.1:n.1902_1920dup
NR_148399.1:n.2428_2446dup
NR_148400.1:n.2027_2045dup
XM_005272162.3:c.716_734dup	XP_005272219.1:p.Gly247TrpfsTer?
XM_006716932.2:c.1562_1580dup	XP_006716995.1:p.Gly529TrpfsTer?
XM_011518140.2:c.1766_1784dup	XP_011516442.1:p.Gly597TrpfsTer?
XM_011518141.2:c.1700_1718dup	XP_011516443.1:p.Gly575TrpfsTer?
XM_011518142.2:c.1604_1622dup	XP_011516444.1:p.Gly543TrpfsTer?
XM_011518143.2:c.1598_1616dup	XP_011516445.1:p.Gly541TrpfsTer?
XM_011518145.2:c.1457_1475dup	XP_011516447.1:p.Gly494TrpfsTer?
XM_017014205.2:c.716_734dup	XP_016869694.1:p.Gly247TrpfsTer?
XM_024447380.1:c.716_734dup	XP_024303148.1:p.Gly247TrpfsTer?
XM_024447381.1:c.1022_1040dup	XP_024303149.1:p.Gly349TrpfsTer?
XM_024447382.1:c.716_734dup	XP_024303150.1:p.Gly247TrpfsTer?
XR_001746160.2:n.2017_2035dup
XR_001746162.2:n.2222_2240dup
XR_001746164.1:n.1939_1957dup
XR_001746166.2:n.2234_2252dup
NM_001077365.2:c.1847_1865dup MANE Select	NP_001070833.1:p.Gly624TrpfsTer?
NM_001077366.2:c.1685_1703dup	NP_001070834.1:p.Gly570TrpfsTer?
NM_001136113.2:c.1847_1865dup	NP_001129585.1:p.Gly624TrpfsTer?
NM_001136114.2:c.1496_1514dup	NP_001129586.1:p.Gly507TrpfsTer?
NM_001353193.2:c.1913_1931dup	NP_001340122.2:p.Gly646TrpfsTer?
NM_001353194.2:c.1685_1703dup	NP_001340123.1:p.Gly570TrpfsTer?
NM_001353195.2:c.1496_1514dup	NP_001340124.1:p.Gly507TrpfsTer?
NM_001353196.2:c.1757_1775dup	NP_001340125.1:p.Gly594TrpfsTer?
NM_001353197.2:c.1751_1769dup	NP_001340126.2:p.Gly592TrpfsTer?
NM_001353198.2:c.1751_1769dup	NP_001340127.2:p.Gly592TrpfsTer?
NM_001353199.2:c.1562_1580dup	NP_001340128.2:p.Gly529TrpfsTer?
NM_001353200.2:c.1391_1409dup	NP_001340129.1:p.Gly472TrpfsTer?
NM_001374689.1:c.1835_1853dup	NP_001361618.1:p.Gly620TrpfsTer?
NM_001374690.1:c.1628_1646dup	NP_001361619.1:p.Gly551TrpfsTer?
NM_001374691.1:c.1496_1514dup	NP_001361620.1:p.Gly507TrpfsTer?
NM_001374692.1:c.1496_1514dup	NP_001361621.1:p.Gly507TrpfsTer?
NM_001374693.1:c.1496_1514dup	NP_001361622.1:p.Gly507TrpfsTer?
NM_001374695.1:c.1457_1475dup	NP_001361624.1:p.Gly494TrpfsTer?
NM_007171.4:c.1913_1931dup	NP_009102.4:p.Gly646TrpfsTer?
NR_148391.2:n.1881_1899dup
NR_148392.2:n.2099_2117dup
NR_148393.2:n.2020_2038dup
NR_148394.2:n.1774_1792dup
NR_148395.2:n.2172_2190dup
NR_148396.2:n.1806_1824dup
NR_148397.2:n.1931_1949dup
NR_148398.2:n.1886_1904dup
NR_148399.2:n.2412_2430dup
NR_148400.2:n.2011_2029dup