Canonical Allele Identifier: CA2692219508

Gene: POMT1

Linked Data

• gnomAD v4: 9-131522083-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522084dup , CM000671.2:g.131522084dup	GRCh38
NC_000009.11:g.134397471dup , CM000671.1:g.134397471dup	GRCh37
NC_000009.10:g.133387292dup	NCBI36
NG_008896.1:g.24183dup
NG_008896.2:g.24183dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.1701dup	ENSP00000343034.7:p.Ala568CysfsTer?
ENST00000404875.7:n.2403dup
ENST00000423007.6:c.1920dup	ENSP00000404119.2:p.Ala641CysfsTer?
ENST00000677295.2:c.*2207dup	ENSP00000504346.2:n.*2207dup
ENST00000678264.2:c.*2046dup	ENSP00000503157.2:n.*2046dup
ENST00000682070.1:n.2291-118dup
ENST00000682813.1:n.2267dup
ENST00000683392.1:n.4573-118dup
ENST00000683712.1:n.2268dup
ENST00000683900.1:n.3763dup
ENST00000684062.1:n.2529dup
ENST00000684579.1:n.3709dup
ENST00000684679.1:n.1090dup
ENST00000341012.12:c.1701dup	ENSP00000343034.7:p.Ala568CysfsTer?
ENST00000372220.5:c.732dup	ENSP00000361294.5:p.Ala245CysfsTer?
ENST00000372228.9:c.1929dup	ENSP00000361302.3:p.Ala644CysfsTer?
ENST00000402686.8:c.1863dup MANE Select	ENSP00000385797.4:p.Ala622CysfsTer?
ENST00000676640.1:c.1863dup	ENSP00000503281.1:p.Ala622CysfsTer?
ENST00000676803.1:c.924dup	ENSP00000503093.1:p.Ala309CysfsTer?
ENST00000676835.1:c.*1078dup	ENSP00000502911.1:n.*1078dup
ENST00000677029.1:c.1407dup	ENSP00000502936.1:p.Ala470CysfsTer?
ENST00000677099.1:c.*1573dup	ENSP00000504553.1:n.*1573dup
ENST00000677216.1:c.1512dup	ENSP00000503772.1:p.Ala505CysfsTer?
ENST00000677221.1:n.888dup
ENST00000677295.1:c.*1203-118dup	ENSP00000504346.1:n.*1203-118dup
ENST00000677444.1:c.1808dup
ENST00000677586.1:n.1230dup
ENST00000677626.1:c.1512dup	ENSP00000503552.1:p.Ala505CysfsTer?
ENST00000677853.1:c.*871dup	ENSP00000503488.1:n.*871dup
ENST00000678202.1:n.1022dup
ENST00000678264.1:c.*1240dup	ENSP00000503157.1:n.*1240dup
ENST00000678303.1:c.1773dup	ENSP00000503696.1:p.Ala592CysfsTer?
ENST00000678366.1:c.*2112dup	ENSP00000504353.1:n.*2112dup
ENST00000678546.1:c.*1808dup	ENSP00000503062.1:n.*1808dup
ENST00000678548.1:c.*2002dup	ENSP00000503934.1:n.*2002dup
ENST00000678626.1:n.1699dup
ENST00000678739.1:c.*2147-118dup	ENSP00000503806.1:n.*2147-118dup
ENST00000678833.1:c.*1615dup	ENSP00000503893.1:n.*1615dup
ENST00000679023.1:c.1701dup	ENSP00000503718.1:p.Ala568CysfsTer?
ENST00000679076.1:c.1482dup
ENST00000679111.1:c.*619dup	ENSP00000504257.1:n.*619dup
ENST00000679189.1:c.1512dup	ENSP00000503356.1:p.Ala505CysfsTer?
ENST00000341012.11:c.1701dup	ENSP00000343034.7:p.Ala568CysfsTer?
ENST00000372220.4:c.726dup	ENSP00000361294.4:p.Ala243CysfsTer?
ENST00000372228.7:c.1929dup	ENSP00000361302.3:p.Ala644CysfsTer?
ENST00000402686.7:c.1863dup	ENSP00000385797.3:p.Ala622CysfsTer?
ENST00000404875.6:c.1512dup	ENSP00000384531.2:p.Ala505CysfsTer?
ENST00000423007.5:c.1863dup	ENSP00000404119.1:p.Ala622CysfsTer?
ENST00000485278.5:n.2413dup
ENST00000494883.1:n.406dup
NM_001077365.1:c.1863dup	NP_001070833.1:p.Ala622CysfsTer?
NM_001077366.1:c.1701dup	NP_001070834.1:p.Ala568CysfsTer?
NM_001136113.1:c.1863dup	NP_001129585.1:p.Ala622CysfsTer?
NM_001136114.1:c.1512dup	NP_001129586.1:p.Ala505CysfsTer?
NM_007171.3:c.1929dup	NP_009102.3:p.Ala644CysfsTer?
XM_005272156.1:c.1929dup	XP_005272213.1:p.Ala644CysfsTer?
XM_005272158.1:c.1767dup	XP_005272215.1:p.Ala590CysfsTer?
XM_005272159.1:c.1578dup	XP_005272216.1:p.Ala527CysfsTer?
XM_005272162.1:c.732dup	XP_005272219.1:p.Ala245CysfsTer?
XM_006716932.1:c.1578dup	XP_006716995.1:p.Ala527CysfsTer?
XM_011518140.1:c.1782dup	XP_011516442.1:p.Ala595CysfsTer?
XM_011518141.1:c.1716dup	XP_011516443.1:p.Ala573CysfsTer?
XM_011518142.1:c.1620dup	XP_011516444.1:p.Ala541CysfsTer?
XM_011518143.1:c.1614dup	XP_011516445.1:p.Ala539CysfsTer?
XM_011518145.1:c.1473dup	XP_011516447.1:p.Ala492CysfsTer?
XM_011518147.1:c.801dup	XP_011516449.1:p.Ala268CysfsTer?
XR_929703.1:n.2105dup
NM_001353193.1:c.1929dup	NP_001340122.1:p.Ala644CysfsTer?
NM_001353194.1:c.1701dup	NP_001340123.1:p.Ala568CysfsTer?
NM_001353195.1:c.1512dup	NP_001340124.1:p.Ala505CysfsTer?
NM_001353196.1:c.1773dup	NP_001340125.1:p.Ala592CysfsTer?
NM_001353197.1:c.1767dup	NP_001340126.1:p.Ala590CysfsTer?
NM_001353198.1:c.1767dup	NP_001340127.1:p.Ala590CysfsTer?
NM_001353199.1:c.1578dup	NP_001340128.1:p.Ala527CysfsTer?
NM_001353200.1:c.1407dup	NP_001340129.1:p.Ala470CysfsTer?
NR_148391.1:n.1913dup
NR_148392.1:n.2131dup
NR_148393.1:n.2052dup
NR_148394.1:n.1806dup
NR_148395.1:n.2204dup
NR_148396.1:n.1838dup
NR_148397.1:n.1963dup
NR_148398.1:n.1918dup
NR_148399.1:n.2444dup
NR_148400.1:n.2043dup
XM_005272162.3:c.732dup	XP_005272219.1:p.Ala245CysfsTer?
XM_006716932.2:c.1578dup	XP_006716995.1:p.Ala527CysfsTer?
XM_011518140.2:c.1782dup	XP_011516442.1:p.Ala595CysfsTer?
XM_011518141.2:c.1716dup	XP_011516443.1:p.Ala573CysfsTer?
XM_011518142.2:c.1620dup	XP_011516444.1:p.Ala541CysfsTer?
XM_011518143.2:c.1614dup	XP_011516445.1:p.Ala539CysfsTer?
XM_011518145.2:c.1473dup	XP_011516447.1:p.Ala492CysfsTer?
XM_017014205.2:c.732dup	XP_016869694.1:p.Ala245CysfsTer?
XM_024447380.1:c.732dup	XP_024303148.1:p.Ala245CysfsTer?
XM_024447381.1:c.1038dup	XP_024303149.1:p.Ala347CysfsTer?
XM_024447382.1:c.732dup	XP_024303150.1:p.Ala245CysfsTer?
XR_001746160.2:n.2033dup
XR_001746162.2:n.2238dup
XR_001746164.1:n.1955dup
XR_001746166.2:n.2250dup
NM_001077365.2:c.1863dup MANE Select	NP_001070833.1:p.Ala622CysfsTer?
NM_001077366.2:c.1701dup	NP_001070834.1:p.Ala568CysfsTer?
NM_001136113.2:c.1863dup	NP_001129585.1:p.Ala622CysfsTer?
NM_001136114.2:c.1512dup	NP_001129586.1:p.Ala505CysfsTer?
NM_001353193.2:c.1929dup	NP_001340122.2:p.Ala644CysfsTer?
NM_001353194.2:c.1701dup	NP_001340123.1:p.Ala568CysfsTer?
NM_001353195.2:c.1512dup	NP_001340124.1:p.Ala505CysfsTer?
NM_001353196.2:c.1773dup	NP_001340125.1:p.Ala592CysfsTer?
NM_001353197.2:c.1767dup	NP_001340126.2:p.Ala590CysfsTer?
NM_001353198.2:c.1767dup	NP_001340127.2:p.Ala590CysfsTer?
NM_001353199.2:c.1578dup	NP_001340128.2:p.Ala527CysfsTer?
NM_001353200.2:c.1407dup	NP_001340129.1:p.Ala470CysfsTer?
NM_001374689.1:c.1851dup	NP_001361618.1:p.Ala618CysfsTer?
NM_001374690.1:c.1644dup	NP_001361619.1:p.Ala549CysfsTer?
NM_001374691.1:c.1512dup	NP_001361620.1:p.Ala505CysfsTer?
NM_001374692.1:c.1512dup	NP_001361621.1:p.Ala505CysfsTer?
NM_001374693.1:c.1512dup	NP_001361622.1:p.Ala505CysfsTer?
NM_001374695.1:c.1473dup	NP_001361624.1:p.Ala492CysfsTer?
NM_007171.4:c.1929dup	NP_009102.4:p.Ala644CysfsTer?
NR_148391.2:n.1897dup
NR_148392.2:n.2115dup
NR_148393.2:n.2036dup
NR_148394.2:n.1790dup
NR_148395.2:n.2188dup
NR_148396.2:n.1822dup
NR_148397.2:n.1947dup
NR_148398.2:n.1902dup
NR_148399.2:n.2428dup
NR_148400.2:n.2027dup