Canonical Allele Identifier: CA2692218920

Gene: POMT1

Linked Data

• gnomAD v4: 9-131515589-T-TCCTCACCCGGAGCACTC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131515593_131515609dup , CM000671.2:g.131515593_131515609dup	GRCh38
NC_000009.11:g.134390980_134390996dup , CM000671.1:g.134390980_134390996dup	GRCh37
NC_000009.10:g.133380801_133380817dup	NCBI36
NG_008896.1:g.17692_17708dup
NG_008896.2:g.17692_17708dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1110+71_1110+87dup	ENSP00000343034.7:n.1110+71_1110+87dup
ENST00000404875.7:n.1812+71_1812+87dup
ENST00000423007.6:c.1329+71_1329+87dup	ENSP00000404119.2:n.1329+71_1329+87dup
ENST00000677295.2:c.*1616+71_*1616+87dup	ENSP00000504346.2:n.*1616+71_*1616+87dup
ENST00000678264.2:c.*1455+71_*1455+87dup	ENSP00000503157.2:n.*1455+71_*1455+87dup
ENST00000682070.1:n.1737+71_1737+87dup
ENST00000682539.1:c.97+71_97+87dup
ENST00000682813.1:n.1537+71_1537+87dup
ENST00000683392.1:n.4019+71_4019+87dup
ENST00000683712.1:n.1677+71_1677+87dup
ENST00000683900.1:n.3172+71_3172+87dup
ENST00000684062.1:n.1938+71_1938+87dup
ENST00000684579.1:n.3118+71_3118+87dup
ENST00000341012.12:c.1110+71_1110+87dup	ENSP00000343034.7:n.1110+71_1110+87dup
ENST00000372220.5:c.141+71_141+87dup	ENSP00000361294.5:n.141+71_141+87dup
ENST00000372228.9:c.1338+71_1338+87dup	ENSP00000361302.3:n.1338+71_1338+87dup
ENST00000402686.8:c.1272+71_1272+87dup MANE Select	ENSP00000385797.4:n.1272+71_1272+87dup
ENST00000676640.1:c.1272+71_1272+87dup	ENSP00000503281.1:n.1272+71_1272+87dup
ENST00000676803.1:c.447+71_447+87dup	ENSP00000503093.1:n.447+71_447+87dup
ENST00000676835.1:c.*487+71_*487+87dup	ENSP00000502911.1:n.*487+71_*487+87dup
ENST00000677029.1:c.816+71_816+87dup	ENSP00000502936.1:n.816+71_816+87dup
ENST00000677099.1:c.*982+71_*982+87dup	ENSP00000504553.1:n.*982+71_*982+87dup
ENST00000677216.1:c.921+71_921+87dup	ENSP00000503772.1:n.921+71_921+87dup
ENST00000677295.1:c.*649+71_*649+87dup	ENSP00000504346.1:n.*649+71_*649+87dup
ENST00000677444.1:c.1078+71_1078+87dup
ENST00000677586.1:n.753+71_753+87dup
ENST00000677626.1:c.921+71_921+87dup	ENSP00000503552.1:n.921+71_921+87dup
ENST00000677677.1:n.1232+71_1232+87dup
ENST00000677853.1:c.*280+71_*280+87dup	ENSP00000503488.1:n.*280+71_*280+87dup
ENST00000677944.1:c.534+71_534+87dup
ENST00000678264.1:c.*649+71_*649+87dup	ENSP00000503157.1:n.*649+71_*649+87dup
ENST00000678303.1:c.1182+71_1182+87dup	ENSP00000503696.1:n.1182+71_1182+87dup
ENST00000678366.1:c.*1521+71_*1521+87dup	ENSP00000504353.1:n.*1521+71_*1521+87dup
ENST00000678546.1:c.*1217+71_*1217+87dup	ENSP00000503062.1:n.*1217+71_*1217+87dup
ENST00000678548.1:c.*1344+71_*1344+87dup	ENSP00000503934.1:n.*1344+71_*1344+87dup
ENST00000678626.1:n.969+71_969+87dup
ENST00000678733.1:c.353+71_353+87dup
ENST00000678739.1:c.*1598+71_*1598+87dup	ENSP00000503806.1:n.*1598+71_*1598+87dup
ENST00000678795.1:n.359+71_359+87dup
ENST00000678833.1:c.*719+71_*719+87dup	ENSP00000503893.1:n.*719+71_*719+87dup
ENST00000678942.1:c.452+71_452+87dup	ENSP00000504690.1:n.452+71_452+87dup
ENST00000679023.1:c.1110+71_1110+87dup	ENSP00000503718.1:n.1110+71_1110+87dup
ENST00000679076.1:c.891+71_891+87dup
ENST00000679111.1:c.1272+71_1272+87dup	ENSP00000504257.1:n.1272+71_1272+87dup
ENST00000679189.1:c.921+71_921+87dup	ENSP00000503356.1:n.921+71_921+87dup
ENST00000341012.11:c.1110+71_1110+87dup	ENSP00000343034.7:n.1110+71_1110+87dup
ENST00000372228.7:c.1338+71_1338+87dup	ENSP00000361302.3:n.1338+71_1338+87dup
ENST00000402686.7:c.1272+71_1272+87dup	ENSP00000385797.3:n.1272+71_1272+87dup
ENST00000404875.6:c.921+71_921+87dup	ENSP00000384531.2:n.921+71_921+87dup
ENST00000423007.5:c.1272+71_1272+87dup	ENSP00000404119.1:n.1272+71_1272+87dup
ENST00000485278.5:n.1827+71_1827+87dup
NM_001077365.1:c.1272+71_1272+87dup	NP_001070833.1:n.1272+71_1272+87dup
NM_001077366.1:c.1110+71_1110+87dup	NP_001070834.1:n.1110+71_1110+87dup
NM_001136113.1:c.1272+71_1272+87dup	NP_001129585.1:n.1272+71_1272+87dup
NM_001136114.1:c.921+71_921+87dup	NP_001129586.1:n.921+71_921+87dup
NM_007171.3:c.1338+71_1338+87dup	NP_009102.3:n.1338+71_1338+87dup
XM_005272156.1:c.1338+71_1338+87dup	XP_005272213.1:n.1338+71_1338+87dup
XM_005272158.1:c.1176+71_1176+87dup	XP_005272215.1:n.1176+71_1176+87dup
XM_005272159.1:c.987+71_987+87dup	XP_005272216.1:n.987+71_987+87dup
XM_005272162.1:c.141+71_141+87dup	XP_005272219.1:n.141+71_141+87dup
XM_006716932.1:c.987+71_987+87dup	XP_006716995.1:n.987+71_987+87dup
XM_011518140.1:c.1191+71_1191+87dup	XP_011516442.1:n.1191+71_1191+87dup
XM_011518141.1:c.1125+71_1125+87dup	XP_011516443.1:n.1125+71_1125+87dup
XM_011518142.1:c.1029+71_1029+87dup	XP_011516444.1:n.1029+71_1029+87dup
XM_011518143.1:c.1023+71_1023+87dup	XP_011516445.1:n.1023+71_1023+87dup
XM_011518144.1:c.1338+71_1338+87dup	XP_011516446.1:n.1338+71_1338+87dup
XM_011518145.1:c.882+71_882+87dup	XP_011516447.1:n.882+71_882+87dup
XM_011518146.1:c.1023+71_1023+87dup	XP_011516448.1:n.1023+71_1023+87dup
XR_929703.1:n.1514+71_1514+87dup
NM_001353193.1:c.1338+71_1338+87dup	NP_001340122.1:n.1338+71_1338+87dup
NM_001353194.1:c.1110+71_1110+87dup	NP_001340123.1:n.1110+71_1110+87dup
NM_001353195.1:c.921+71_921+87dup	NP_001340124.1:n.921+71_921+87dup
NM_001353196.1:c.1182+71_1182+87dup	NP_001340125.1:n.1182+71_1182+87dup
NM_001353197.1:c.1176+71_1176+87dup	NP_001340126.1:n.1176+71_1176+87dup
NM_001353198.1:c.1176+71_1176+87dup	NP_001340127.1:n.1176+71_1176+87dup
NM_001353199.1:c.987+71_987+87dup	NP_001340128.1:n.987+71_987+87dup
NM_001353200.1:c.816+71_816+87dup	NP_001340129.1:n.816+71_816+87dup
NR_148391.1:n.1322+71_1322+87dup
NR_148392.1:n.1540+71_1540+87dup
NR_148393.1:n.1322+71_1322+87dup
NR_148394.1:n.1215+71_1215+87dup
NR_148395.1:n.1474+71_1474+87dup
NR_148396.1:n.1108+71_1108+87dup
NR_148397.1:n.1372+71_1372+87dup
NR_148398.1:n.1327+71_1327+87dup
NR_148399.1:n.1714+71_1714+87dup
NR_148400.1:n.1313+71_1313+87dup
XM_005272162.3:c.141+71_141+87dup	XP_005272219.1:n.141+71_141+87dup
XM_006716932.2:c.987+71_987+87dup	XP_006716995.1:n.987+71_987+87dup
XM_011518140.2:c.1191+71_1191+87dup	XP_011516442.1:n.1191+71_1191+87dup
XM_011518141.2:c.1125+71_1125+87dup	XP_011516443.1:n.1125+71_1125+87dup
XM_011518142.2:c.1029+71_1029+87dup	XP_011516444.1:n.1029+71_1029+87dup
XM_011518143.2:c.1023+71_1023+87dup	XP_011516445.1:n.1023+71_1023+87dup
XM_011518145.2:c.882+71_882+87dup	XP_011516447.1:n.882+71_882+87dup
XM_017014205.2:c.141+71_141+87dup	XP_016869694.1:n.141+71_141+87dup
XM_024447380.1:c.141+71_141+87dup	XP_024303148.1:n.141+71_141+87dup
XM_024447381.1:c.447+71_447+87dup	XP_024303149.1:n.447+71_447+87dup
XM_024447382.1:c.141+71_141+87dup	XP_024303150.1:n.141+71_141+87dup
XR_001746160.2:n.1442+71_1442+87dup
XR_001746162.2:n.1508+71_1508+87dup
XR_001746164.1:n.1225+71_1225+87dup
XR_001746166.2:n.1659+71_1659+87dup
NM_001077365.2:c.1272+71_1272+87dup MANE Select	NP_001070833.1:n.1272+71_1272+87dup
NM_001077366.2:c.1110+71_1110+87dup	NP_001070834.1:n.1110+71_1110+87dup
NM_001136113.2:c.1272+71_1272+87dup	NP_001129585.1:n.1272+71_1272+87dup
NM_001136114.2:c.921+71_921+87dup	NP_001129586.1:n.921+71_921+87dup
NM_001353193.2:c.1338+71_1338+87dup	NP_001340122.2:n.1338+71_1338+87dup
NM_001353194.2:c.1110+71_1110+87dup	NP_001340123.1:n.1110+71_1110+87dup
NM_001353195.2:c.921+71_921+87dup	NP_001340124.1:n.921+71_921+87dup
NM_001353196.2:c.1182+71_1182+87dup	NP_001340125.1:n.1182+71_1182+87dup
NM_001353197.2:c.1176+71_1176+87dup	NP_001340126.2:n.1176+71_1176+87dup
NM_001353198.2:c.1176+71_1176+87dup	NP_001340127.2:n.1176+71_1176+87dup
NM_001353199.2:c.987+71_987+87dup	NP_001340128.2:n.987+71_987+87dup
NM_001353200.2:c.816+71_816+87dup	NP_001340129.1:n.816+71_816+87dup
NM_001374689.1:c.1260+71_1260+87dup	NP_001361618.1:n.1260+71_1260+87dup
NM_001374690.1:c.1272+71_1272+87dup	NP_001361619.1:n.1272+71_1272+87dup
NM_001374691.1:c.921+71_921+87dup	NP_001361620.1:n.921+71_921+87dup
NM_001374692.1:c.921+71_921+87dup	NP_001361621.1:n.921+71_921+87dup
NM_001374693.1:c.921+71_921+87dup	NP_001361622.1:n.921+71_921+87dup
NM_001374695.1:c.882+71_882+87dup	NP_001361624.1:n.882+71_882+87dup
NM_007171.4:c.1338+71_1338+87dup	NP_009102.4:n.1338+71_1338+87dup
NR_148391.2:n.1306+71_1306+87dup
NR_148392.2:n.1524+71_1524+87dup
NR_148393.2:n.1306+71_1306+87dup
NR_148394.2:n.1199+71_1199+87dup
NR_148395.2:n.1458+71_1458+87dup
NR_148396.2:n.1092+71_1092+87dup
NR_148397.2:n.1356+71_1356+87dup
NR_148398.2:n.1311+71_1311+87dup
NR_148399.2:n.1698+71_1698+87dup
NR_148400.2:n.1297+71_1297+87dup