Canonical Allele Identifier: CA2720715879

Gene: POMT1

Linked Data

• dbSNP Id: rs2131773712

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131515847_131515848insGAA , CM000671.2:g.131515847_131515848insGAA	GRCh38
NC_000009.11:g.134391234_134391235insGAA , CM000671.1:g.134391234_134391235insGAA	GRCh37
NC_000009.10:g.133381055_133381056insGAA	NCBI36
NG_008896.1:g.17946_17947insGAA
NG_008896.2:g.17946_17947insGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1110+325_1110+326insGAA	ENSP00000343034.7:n.1110+325_1110+326insGAA
ENST00000404875.7:n.1812+325_1812+326insGAA
ENST00000423007.6:c.1329+325_1329+326insGAA	ENSP00000404119.2:n.1329+325_1329+326insGAA
ENST00000677295.2:c.*1616+325_*1616+326insGAA	ENSP00000504346.2:n.*1616+325_*1616+326insGAA
ENST00000678264.2:c.*1455+325_*1455+326insGAA	ENSP00000503157.2:n.*1455+325_*1455+326insGAA
ENST00000682070.1:n.1737+325_1737+326insGAA
ENST00000682539.1:c.97+325_97+326insGAA
ENST00000682813.1:n.1537+325_1537+326insGAA
ENST00000683392.1:n.4019+325_4019+326insGAA
ENST00000683712.1:n.1677+325_1677+326insGAA
ENST00000683900.1:n.3172+325_3172+326insGAA
ENST00000684062.1:n.1938+325_1938+326insGAA
ENST00000684579.1:n.3118+325_3118+326insGAA
ENST00000341012.12:c.1110+325_1110+326insGAA	ENSP00000343034.7:n.1110+325_1110+326insGAA
ENST00000372220.5:c.141+325_141+326insGAA	ENSP00000361294.5:n.141+325_141+326insGAA
ENST00000372228.9:c.1338+325_1338+326insGAA	ENSP00000361302.3:n.1338+325_1338+326insGAA
ENST00000402686.8:c.1272+325_1272+326insGAA MANE Select	ENSP00000385797.4:n.1272+325_1272+326insGAA
ENST00000676640.1:c.1272+325_1272+326insGAA	ENSP00000503281.1:n.1272+325_1272+326insGAA
ENST00000676803.1:c.447+325_447+326insGAA	ENSP00000503093.1:n.447+325_447+326insGAA
ENST00000676835.1:c.*487+325_*487+326insGAA	ENSP00000502911.1:n.*487+325_*487+326insGAA
ENST00000677029.1:c.816+325_816+326insGAA	ENSP00000502936.1:n.816+325_816+326insGAA
ENST00000677099.1:c.*982+325_*982+326insGAA	ENSP00000504553.1:n.*982+325_*982+326insGAA
ENST00000677216.1:c.921+325_921+326insGAA	ENSP00000503772.1:n.921+325_921+326insGAA
ENST00000677295.1:c.*649+325_*649+326insGAA	ENSP00000504346.1:n.*649+325_*649+326insGAA
ENST00000677444.1:c.1078+325_1078+326insGAA
ENST00000677586.1:n.753+325_753+326insGAA
ENST00000677626.1:c.921+325_921+326insGAA	ENSP00000503552.1:n.921+325_921+326insGAA
ENST00000677677.1:n.1232+325_1232+326insGAA
ENST00000677853.1:c.*280+325_*280+326insGAA	ENSP00000503488.1:n.*280+325_*280+326insGAA
ENST00000677944.1:c.534+325_534+326insGAA
ENST00000678264.1:c.*649+325_*649+326insGAA	ENSP00000503157.1:n.*649+325_*649+326insGAA
ENST00000678303.1:c.1182+325_1182+326insGAA	ENSP00000503696.1:n.1182+325_1182+326insGAA
ENST00000678366.1:c.*1521+325_*1521+326insGAA	ENSP00000504353.1:n.*1521+325_*1521+326insGAA
ENST00000678546.1:c.*1217+325_*1217+326insGAA	ENSP00000503062.1:n.*1217+325_*1217+326insGAA
ENST00000678548.1:c.*1344+325_*1344+326insGAA	ENSP00000503934.1:n.*1344+325_*1344+326insGAA
ENST00000678626.1:n.969+325_969+326insGAA
ENST00000678733.1:c.353+325_353+326insGAA
ENST00000678739.1:c.*1598+325_*1598+326insGAA	ENSP00000503806.1:n.*1598+325_*1598+326insGAA
ENST00000678795.1:n.359+325_359+326insGAA
ENST00000678833.1:c.*719+325_*719+326insGAA	ENSP00000503893.1:n.*719+325_*719+326insGAA
ENST00000678942.1:c.452+325_452+326insGAA	ENSP00000504690.1:n.452+325_452+326insGAA
ENST00000679023.1:c.1110+325_1110+326insGAA	ENSP00000503718.1:n.1110+325_1110+326insGAA
ENST00000679076.1:c.891+325_891+326insGAA
ENST00000679111.1:c.1272+325_1272+326insGAA	ENSP00000504257.1:n.1272+325_1272+326insGAA
ENST00000679189.1:c.921+325_921+326insGAA	ENSP00000503356.1:n.921+325_921+326insGAA
ENST00000341012.11:c.1110+325_1110+326insGAA	ENSP00000343034.7:n.1110+325_1110+326insGAA
ENST00000372228.7:c.1338+325_1338+326insGAA	ENSP00000361302.3:n.1338+325_1338+326insGAA
ENST00000402686.7:c.1272+325_1272+326insGAA	ENSP00000385797.3:n.1272+325_1272+326insGAA
ENST00000404875.6:c.921+325_921+326insGAA	ENSP00000384531.2:n.921+325_921+326insGAA
ENST00000423007.5:c.1272+325_1272+326insGAA	ENSP00000404119.1:n.1272+325_1272+326insGAA
ENST00000485278.5:n.1827+325_1827+326insGAA
NM_001077365.1:c.1272+325_1272+326insGAA	NP_001070833.1:n.1272+325_1272+326insGAA
NM_001077366.1:c.1110+325_1110+326insGAA	NP_001070834.1:n.1110+325_1110+326insGAA
NM_001136113.1:c.1272+325_1272+326insGAA	NP_001129585.1:n.1272+325_1272+326insGAA
NM_001136114.1:c.921+325_921+326insGAA	NP_001129586.1:n.921+325_921+326insGAA
NM_007171.3:c.1338+325_1338+326insGAA	NP_009102.3:n.1338+325_1338+326insGAA
XM_005272156.1:c.1338+325_1338+326insGAA	XP_005272213.1:n.1338+325_1338+326insGAA
XM_005272158.1:c.1176+325_1176+326insGAA	XP_005272215.1:n.1176+325_1176+326insGAA
XM_005272159.1:c.987+325_987+326insGAA	XP_005272216.1:n.987+325_987+326insGAA
XM_005272162.1:c.141+325_141+326insGAA	XP_005272219.1:n.141+325_141+326insGAA
XM_006716932.1:c.987+325_987+326insGAA	XP_006716995.1:n.987+325_987+326insGAA
XM_011518140.1:c.1191+325_1191+326insGAA	XP_011516442.1:n.1191+325_1191+326insGAA
XM_011518141.1:c.1125+325_1125+326insGAA	XP_011516443.1:n.1125+325_1125+326insGAA
XM_011518142.1:c.1029+325_1029+326insGAA	XP_011516444.1:n.1029+325_1029+326insGAA
XM_011518143.1:c.1023+325_1023+326insGAA	XP_011516445.1:n.1023+325_1023+326insGAA
XM_011518144.1:c.1338+325_1338+326insGAA	XP_011516446.1:n.1338+325_1338+326insGAA
XM_011518145.1:c.882+325_882+326insGAA	XP_011516447.1:n.882+325_882+326insGAA
XM_011518146.1:c.1023+325_1023+326insGAA	XP_011516448.1:n.1023+325_1023+326insGAA
XR_929703.1:n.1514+325_1514+326insGAA
NM_001353193.1:c.1338+325_1338+326insGAA	NP_001340122.1:n.1338+325_1338+326insGAA
NM_001353194.1:c.1110+325_1110+326insGAA	NP_001340123.1:n.1110+325_1110+326insGAA
NM_001353195.1:c.921+325_921+326insGAA	NP_001340124.1:n.921+325_921+326insGAA
NM_001353196.1:c.1182+325_1182+326insGAA	NP_001340125.1:n.1182+325_1182+326insGAA
NM_001353197.1:c.1176+325_1176+326insGAA	NP_001340126.1:n.1176+325_1176+326insGAA
NM_001353198.1:c.1176+325_1176+326insGAA	NP_001340127.1:n.1176+325_1176+326insGAA
NM_001353199.1:c.987+325_987+326insGAA	NP_001340128.1:n.987+325_987+326insGAA
NM_001353200.1:c.816+325_816+326insGAA	NP_001340129.1:n.816+325_816+326insGAA
NR_148391.1:n.1322+325_1322+326insGAA
NR_148392.1:n.1540+325_1540+326insGAA
NR_148393.1:n.1322+325_1322+326insGAA
NR_148394.1:n.1215+325_1215+326insGAA
NR_148395.1:n.1474+325_1474+326insGAA
NR_148396.1:n.1108+325_1108+326insGAA
NR_148397.1:n.1372+325_1372+326insGAA
NR_148398.1:n.1327+325_1327+326insGAA
NR_148399.1:n.1714+325_1714+326insGAA
NR_148400.1:n.1313+325_1313+326insGAA
XM_005272162.3:c.141+325_141+326insGAA	XP_005272219.1:n.141+325_141+326insGAA
XM_006716932.2:c.987+325_987+326insGAA	XP_006716995.1:n.987+325_987+326insGAA
XM_011518140.2:c.1191+325_1191+326insGAA	XP_011516442.1:n.1191+325_1191+326insGAA
XM_011518141.2:c.1125+325_1125+326insGAA	XP_011516443.1:n.1125+325_1125+326insGAA
XM_011518142.2:c.1029+325_1029+326insGAA	XP_011516444.1:n.1029+325_1029+326insGAA
XM_011518143.2:c.1023+325_1023+326insGAA	XP_011516445.1:n.1023+325_1023+326insGAA
XM_011518145.2:c.882+325_882+326insGAA	XP_011516447.1:n.882+325_882+326insGAA
XM_017014205.2:c.141+325_141+326insGAA	XP_016869694.1:n.141+325_141+326insGAA
XM_024447380.1:c.141+325_141+326insGAA	XP_024303148.1:n.141+325_141+326insGAA
XM_024447381.1:c.447+325_447+326insGAA	XP_024303149.1:n.447+325_447+326insGAA
XM_024447382.1:c.141+325_141+326insGAA	XP_024303150.1:n.141+325_141+326insGAA
XR_001746160.2:n.1442+325_1442+326insGAA
XR_001746162.2:n.1508+325_1508+326insGAA
XR_001746164.1:n.1225+325_1225+326insGAA
XR_001746166.2:n.1659+325_1659+326insGAA
NM_001077365.2:c.1272+325_1272+326insGAA MANE Select	NP_001070833.1:n.1272+325_1272+326insGAA
NM_001077366.2:c.1110+325_1110+326insGAA	NP_001070834.1:n.1110+325_1110+326insGAA
NM_001136113.2:c.1272+325_1272+326insGAA	NP_001129585.1:n.1272+325_1272+326insGAA
NM_001136114.2:c.921+325_921+326insGAA	NP_001129586.1:n.921+325_921+326insGAA
NM_001353193.2:c.1338+325_1338+326insGAA	NP_001340122.2:n.1338+325_1338+326insGAA
NM_001353194.2:c.1110+325_1110+326insGAA	NP_001340123.1:n.1110+325_1110+326insGAA
NM_001353195.2:c.921+325_921+326insGAA	NP_001340124.1:n.921+325_921+326insGAA
NM_001353196.2:c.1182+325_1182+326insGAA	NP_001340125.1:n.1182+325_1182+326insGAA
NM_001353197.2:c.1176+325_1176+326insGAA	NP_001340126.2:n.1176+325_1176+326insGAA
NM_001353198.2:c.1176+325_1176+326insGAA	NP_001340127.2:n.1176+325_1176+326insGAA
NM_001353199.2:c.987+325_987+326insGAA	NP_001340128.2:n.987+325_987+326insGAA
NM_001353200.2:c.816+325_816+326insGAA	NP_001340129.1:n.816+325_816+326insGAA
NM_001374689.1:c.1260+325_1260+326insGAA	NP_001361618.1:n.1260+325_1260+326insGAA
NM_001374690.1:c.1272+325_1272+326insGAA	NP_001361619.1:n.1272+325_1272+326insGAA
NM_001374691.1:c.921+325_921+326insGAA	NP_001361620.1:n.921+325_921+326insGAA
NM_001374692.1:c.921+325_921+326insGAA	NP_001361621.1:n.921+325_921+326insGAA
NM_001374693.1:c.921+325_921+326insGAA	NP_001361622.1:n.921+325_921+326insGAA
NM_001374695.1:c.882+325_882+326insGAA	NP_001361624.1:n.882+325_882+326insGAA
NM_007171.4:c.1338+325_1338+326insGAA	NP_009102.4:n.1338+325_1338+326insGAA
NR_148391.2:n.1306+325_1306+326insGAA
NR_148392.2:n.1524+325_1524+326insGAA
NR_148393.2:n.1306+325_1306+326insGAA
NR_148394.2:n.1199+325_1199+326insGAA
NR_148395.2:n.1458+325_1458+326insGAA
NR_148396.2:n.1092+325_1092+326insGAA
NR_148397.2:n.1356+325_1356+326insGAA
NR_148398.2:n.1311+325_1311+326insGAA
NR_148399.2:n.1698+325_1698+326insGAA
NR_148400.2:n.1297+325_1297+326insGAA