Canonical Allele Identifier: CA2603393772

Gene: POMT1

Linked Data

• dbSNP Id: rs2131949086
• gnomAD v3: 9-131523122-A-G
• gnomAD v4: 9-131523122-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523122A>G , CM000671.2:g.131523122A>G	GRCh38
NC_000009.11:g.134398509A>G , CM000671.1:g.134398509A>G	GRCh37
NC_000009.10:g.133388330A>G	NCBI36
NG_008896.1:g.25221A>G
NG_008896.2:g.25221A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.*16A>G	ENSP00000343034.7:n.*16A>G
ENST00000404875.7:n.2734A>G
ENST00000677295.2:c.*2538A>G	ENSP00000504346.2:n.*2538A>G
ENST00000678264.2:c.*2377A>G	ENSP00000503157.2:n.*2377A>G
ENST00000682070.1:n.2504A>G
ENST00000682639.1:c.191A>G
ENST00000682813.1:n.2591A>G
ENST00000683231.1:c.191A>G
ENST00000683392.1:n.4786A>G
ENST00000683900.1:n.4094A>G
ENST00000684062.1:n.2860A>G
ENST00000684399.1:c.191A>G
ENST00000684579.1:n.4040A>G
ENST00000341012.12:c.*16A>G	ENSP00000343034.7:n.*16A>G
ENST00000372220.5:c.*16A>G	ENSP00000361294.5:n.*16A>G
ENST00000372228.9:c.*16A>G	ENSP00000361302.3:n.*16A>G
ENST00000402686.8:c.*16A>G MANE Select	ENSP00000385797.4:n.*16A>G
ENST00000676640.1:c.*16A>G	ENSP00000503281.1:n.*16A>G
ENST00000676803.1:c.*16A>G	ENSP00000503093.1:n.*16A>G
ENST00000676835.1:c.*1409A>G	ENSP00000502911.1:n.*1409A>G
ENST00000677029.1:c.*16A>G	ENSP00000502936.1:n.*16A>G
ENST00000677099.1:c.*1904A>G	ENSP00000504553.1:n.*1904A>G
ENST00000677216.1:c.*16A>G	ENSP00000503772.1:n.*16A>G
ENST00000677295.1:c.*1416A>G	ENSP00000504346.1:n.*1416A>G
ENST00000677444.1:c.2139A>G
ENST00000677586.1:n.1561A>G
ENST00000677626.1:c.*16A>G	ENSP00000503552.1:n.*16A>G
ENST00000677853.1:c.*1202A>G	ENSP00000503488.1:n.*1202A>G
ENST00000678303.1:c.*16A>G	ENSP00000503696.1:n.*16A>G
ENST00000678366.1:c.*2443A>G	ENSP00000504353.1:n.*2443A>G
ENST00000678546.1:c.*2139A>G	ENSP00000503062.1:n.*2139A>G
ENST00000678548.1:c.*2333A>G	ENSP00000503934.1:n.*2333A>G
ENST00000678626.1:n.2030A>G
ENST00000678739.1:c.*2360A>G	ENSP00000503806.1:n.*2360A>G
ENST00000678833.1:c.*1946A>G	ENSP00000503893.1:n.*1946A>G
ENST00000679023.1:c.*16A>G	ENSP00000503718.1:n.*16A>G
ENST00000679076.1:c.1813A>G
ENST00000679111.1:c.*950A>G	ENSP00000504257.1:n.*950A>G
ENST00000679189.1:c.*16A>G	ENSP00000503356.1:n.*16A>G
ENST00000341012.11:c.*16A>G	ENSP00000343034.7:n.*16A>G
ENST00000372220.4:c.1057A>G	ENSP00000361294.4:n.1057A>G
ENST00000372228.7:c.*16A>G	ENSP00000361302.3:n.*16A>G
ENST00000402686.7:c.*16A>G	ENSP00000385797.3:n.*16A>G
ENST00000404875.6:c.*16A>G	ENSP00000384531.2:n.*16A>G
ENST00000423007.5:c.*16A>G	ENSP00000404119.1:n.*16A>G
ENST00000485278.5:n.2744A>G
NM_001077365.1:c.*16A>G	NP_001070833.1:n.*16A>G
NM_001077366.1:c.*16A>G	NP_001070834.1:n.*16A>G
NM_001136113.1:c.*16A>G	NP_001129585.1:n.*16A>G
NM_001136114.1:c.*16A>G	NP_001129586.1:n.*16A>G
NM_007171.3:c.*16A>G	NP_009102.3:n.*16A>G
XM_005272156.1:c.*16A>G	XP_005272213.1:n.*16A>G
XM_005272158.1:c.*16A>G	XP_005272215.1:n.*16A>G
XM_005272159.1:c.*16A>G	XP_005272216.1:n.*16A>G
XM_005272162.1:c.*16A>G	XP_005272219.1:n.*16A>G
XM_006716932.1:c.*16A>G	XP_006716995.1:n.*16A>G
XM_011518140.1:c.*16A>G	XP_011516442.1:n.*16A>G
XM_011518141.1:c.*16A>G	XP_011516443.1:n.*16A>G
XM_011518142.1:c.*16A>G	XP_011516444.1:n.*16A>G
XM_011518143.1:c.*16A>G	XP_011516445.1:n.*16A>G
XM_011518145.1:c.*16A>G	XP_011516447.1:n.*16A>G
XM_011518147.1:c.*16A>G	XP_011516449.1:n.*16A>G
XR_929703.1:n.2436A>G
NM_001353193.1:c.*16A>G	NP_001340122.1:n.*16A>G
NM_001353194.1:c.*16A>G	NP_001340123.1:n.*16A>G
NM_001353195.1:c.*16A>G	NP_001340124.1:n.*16A>G
NM_001353196.1:c.*16A>G	NP_001340125.1:n.*16A>G
NM_001353197.1:c.*16A>G	NP_001340126.1:n.*16A>G
NM_001353198.1:c.*16A>G	NP_001340127.1:n.*16A>G
NM_001353199.1:c.*16A>G	NP_001340128.1:n.*16A>G
NM_001353200.1:c.*16A>G	NP_001340129.1:n.*16A>G
NR_148391.1:n.2244A>G
NR_148392.1:n.2462A>G
NR_148393.1:n.2383A>G
NR_148394.1:n.2137A>G
NR_148395.1:n.2535A>G
NR_148396.1:n.2169A>G
NR_148397.1:n.2294A>G
NR_148398.1:n.2249A>G
NR_148399.1:n.2775A>G
NR_148400.1:n.2374A>G
XM_005272162.3:c.*16A>G	XP_005272219.1:n.*16A>G
XM_006716932.2:c.*16A>G	XP_006716995.1:n.*16A>G
XM_011518140.2:c.*16A>G	XP_011516442.1:n.*16A>G
XM_011518141.2:c.*16A>G	XP_011516443.1:n.*16A>G
XM_011518142.2:c.*16A>G	XP_011516444.1:n.*16A>G
XM_011518143.2:c.*16A>G	XP_011516445.1:n.*16A>G
XM_011518145.2:c.*16A>G	XP_011516447.1:n.*16A>G
XM_017014205.2:c.*16A>G	XP_016869694.1:n.*16A>G
XM_024447380.1:c.*16A>G	XP_024303148.1:n.*16A>G
XM_024447381.1:c.*16A>G	XP_024303149.1:n.*16A>G
XM_024447382.1:c.*16A>G	XP_024303150.1:n.*16A>G
XR_001746160.2:n.2364A>G
XR_001746162.2:n.2569A>G
XR_001746164.1:n.2286A>G
XR_001746166.2:n.2581A>G
NM_001077365.2:c.*16A>G MANE Select	NP_001070833.1:n.*16A>G
NM_001077366.2:c.*16A>G	NP_001070834.1:n.*16A>G
NM_001136113.2:c.*16A>G	NP_001129585.1:n.*16A>G
NM_001136114.2:c.*16A>G	NP_001129586.1:n.*16A>G
NM_001353193.2:c.*16A>G	NP_001340122.2:n.*16A>G
NM_001353194.2:c.*16A>G	NP_001340123.1:n.*16A>G
NM_001353195.2:c.*16A>G	NP_001340124.1:n.*16A>G
NM_001353196.2:c.*16A>G	NP_001340125.1:n.*16A>G
NM_001353197.2:c.*16A>G	NP_001340126.2:n.*16A>G
NM_001353198.2:c.*16A>G	NP_001340127.2:n.*16A>G
NM_001353199.2:c.*16A>G	NP_001340128.2:n.*16A>G
NM_001353200.2:c.*16A>G	NP_001340129.1:n.*16A>G
NM_001374689.1:c.*16A>G	NP_001361618.1:n.*16A>G
NM_001374690.1:c.*16A>G	NP_001361619.1:n.*16A>G
NM_001374691.1:c.*16A>G	NP_001361620.1:n.*16A>G
NM_001374692.1:c.*16A>G	NP_001361621.1:n.*16A>G
NM_001374693.1:c.*16A>G	NP_001361622.1:n.*16A>G
NM_001374695.1:c.*16A>G	NP_001361624.1:n.*16A>G
NM_007171.4:c.*16A>G	NP_009102.4:n.*16A>G
NR_148391.2:n.2228A>G
NR_148392.2:n.2446A>G
NR_148393.2:n.2367A>G
NR_148394.2:n.2121A>G
NR_148395.2:n.2519A>G
NR_148396.2:n.2153A>G
NR_148397.2:n.2278A>G
NR_148398.2:n.2233A>G
NR_148399.2:n.2759A>G
NR_148400.2:n.2358A>G