Canonical Allele Identifier: CA1129598358

Gene: POMT1

Linked Data

• gnomAD v3: 9-131515909-C-CTAACACAGG
• gnomAD v4: 9-131515909-C-CTAACACAGG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131515909_131515910insTAACACAGG , CM000671.2:g.131515909_131515910insTAACACAGG	GRCh38
NC_000009.11:g.134391296_134391297insTAACACAGG , CM000671.1:g.134391296_134391297insTAACACAGG	GRCh37
NC_000009.10:g.133381117_133381118insTAACACAGG	NCBI36
NG_008896.1:g.18008_18009insTAACACAGG
NG_008896.2:g.18008_18009insTAACACAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1110+387_1110+388insTAACACAGG	ENSP00000343034.7:n.1110+387_1110+388insTAACACAGG
ENST00000404875.7:n.1812+387_1812+388insTAACACAGG
ENST00000423007.6:c.1329+387_1329+388insTAACACAGG	ENSP00000404119.2:n.1329+387_1329+388insTAACACAGG
ENST00000677295.2:c.*1616+387_*1616+388insTAACACAGG	ENSP00000504346.2:n.*1616+387_*1616+388insTAACACAGG
ENST00000678264.2:c.*1455+387_*1455+388insTAACACAGG	ENSP00000503157.2:n.*1455+387_*1455+388insTAACACAGG
ENST00000682070.1:n.1737+387_1737+388insTAACACAGG
ENST00000682539.1:c.97+387_97+388insTAACACAGG
ENST00000682813.1:n.1537+387_1537+388insTAACACAGG
ENST00000683392.1:n.4019+387_4019+388insTAACACAGG
ENST00000683712.1:n.1677+387_1677+388insTAACACAGG
ENST00000683900.1:n.3172+387_3172+388insTAACACAGG
ENST00000684062.1:n.1938+387_1938+388insTAACACAGG
ENST00000684579.1:n.3118+387_3118+388insTAACACAGG
ENST00000341012.12:c.1110+387_1110+388insTAACACAGG	ENSP00000343034.7:n.1110+387_1110+388insTAACACAGG
ENST00000372220.5:c.141+387_141+388insTAACACAGG	ENSP00000361294.5:n.141+387_141+388insTAACACAGG
ENST00000372228.9:c.1338+387_1338+388insTAACACAGG	ENSP00000361302.3:n.1338+387_1338+388insTAACACAGG
ENST00000402686.8:c.1272+387_1272+388insTAACACAGG MANE Select	ENSP00000385797.4:n.1272+387_1272+388insTAACACAGG
ENST00000676640.1:c.1272+387_1272+388insTAACACAGG	ENSP00000503281.1:n.1272+387_1272+388insTAACACAGG
ENST00000676803.1:c.447+387_447+388insTAACACAGG	ENSP00000503093.1:n.447+387_447+388insTAACACAGG
ENST00000676835.1:c.*487+387_*487+388insTAACACAGG	ENSP00000502911.1:n.*487+387_*487+388insTAACACAGG
ENST00000677029.1:c.816+387_816+388insTAACACAGG	ENSP00000502936.1:n.816+387_816+388insTAACACAGG
ENST00000677099.1:c.*982+387_*982+388insTAACACAGG	ENSP00000504553.1:n.*982+387_*982+388insTAACACAGG
ENST00000677216.1:c.921+387_921+388insTAACACAGG	ENSP00000503772.1:n.921+387_921+388insTAACACAGG
ENST00000677295.1:c.*649+387_*649+388insTAACACAGG	ENSP00000504346.1:n.*649+387_*649+388insTAACACAGG
ENST00000677444.1:c.1078+387_1078+388insTAACACAGG
ENST00000677586.1:n.753+387_753+388insTAACACAGG
ENST00000677626.1:c.921+387_921+388insTAACACAGG	ENSP00000503552.1:n.921+387_921+388insTAACACAGG
ENST00000677677.1:n.1232+387_1232+388insTAACACAGG
ENST00000677853.1:c.*280+387_*280+388insTAACACAGG	ENSP00000503488.1:n.*280+387_*280+388insTAACACAGG
ENST00000677944.1:c.534+387_534+388insTAACACAGG
ENST00000678264.1:c.*649+387_*649+388insTAACACAGG	ENSP00000503157.1:n.*649+387_*649+388insTAACACAGG
ENST00000678303.1:c.1182+387_1182+388insTAACACAGG	ENSP00000503696.1:n.1182+387_1182+388insTAACACAGG
ENST00000678366.1:c.*1521+387_*1521+388insTAACACAGG	ENSP00000504353.1:n.*1521+387_*1521+388insTAACACAGG
ENST00000678546.1:c.*1217+387_*1217+388insTAACACAGG	ENSP00000503062.1:n.*1217+387_*1217+388insTAACACAGG
ENST00000678548.1:c.*1344+387_*1344+388insTAACACAGG	ENSP00000503934.1:n.*1344+387_*1344+388insTAACACAGG
ENST00000678626.1:n.969+387_969+388insTAACACAGG
ENST00000678733.1:c.353+387_353+388insTAACACAGG
ENST00000678739.1:c.*1598+387_*1598+388insTAACACAGG	ENSP00000503806.1:n.*1598+387_*1598+388insTAACACAGG
ENST00000678795.1:n.359+387_359+388insTAACACAGG
ENST00000678833.1:c.*719+387_*719+388insTAACACAGG	ENSP00000503893.1:n.*719+387_*719+388insTAACACAGG
ENST00000678942.1:c.452+387_452+388insTAACACAGG	ENSP00000504690.1:n.452+387_452+388insTAACACAGG
ENST00000679023.1:c.1110+387_1110+388insTAACACAGG	ENSP00000503718.1:n.1110+387_1110+388insTAACACAGG
ENST00000679076.1:c.891+387_891+388insTAACACAGG
ENST00000679111.1:c.1272+387_1272+388insTAACACAGG	ENSP00000504257.1:n.1272+387_1272+388insTAACACAGG
ENST00000679189.1:c.921+387_921+388insTAACACAGG	ENSP00000503356.1:n.921+387_921+388insTAACACAGG
ENST00000341012.11:c.1110+387_1110+388insTAACACAGG	ENSP00000343034.7:n.1110+387_1110+388insTAACACAGG
ENST00000372228.7:c.1338+387_1338+388insTAACACAGG	ENSP00000361302.3:n.1338+387_1338+388insTAACACAGG
ENST00000402686.7:c.1272+387_1272+388insTAACACAGG	ENSP00000385797.3:n.1272+387_1272+388insTAACACAGG
ENST00000404875.6:c.921+387_921+388insTAACACAGG	ENSP00000384531.2:n.921+387_921+388insTAACACAGG
ENST00000423007.5:c.1272+387_1272+388insTAACACAGG	ENSP00000404119.1:n.1272+387_1272+388insTAACACAGG
ENST00000485278.5:n.1827+387_1827+388insTAACACAGG
NM_001077365.1:c.1272+387_1272+388insTAACACAGG	NP_001070833.1:n.1272+387_1272+388insTAACACAGG
NM_001077366.1:c.1110+387_1110+388insTAACACAGG	NP_001070834.1:n.1110+387_1110+388insTAACACAGG
NM_001136113.1:c.1272+387_1272+388insTAACACAGG	NP_001129585.1:n.1272+387_1272+388insTAACACAGG
NM_001136114.1:c.921+387_921+388insTAACACAGG	NP_001129586.1:n.921+387_921+388insTAACACAGG
NM_007171.3:c.1338+387_1338+388insTAACACAGG	NP_009102.3:n.1338+387_1338+388insTAACACAGG
XM_005272156.1:c.1338+387_1338+388insTAACACAGG	XP_005272213.1:n.1338+387_1338+388insTAACACAGG
XM_005272158.1:c.1176+387_1176+388insTAACACAGG	XP_005272215.1:n.1176+387_1176+388insTAACACAGG
XM_005272159.1:c.987+387_987+388insTAACACAGG	XP_005272216.1:n.987+387_987+388insTAACACAGG
XM_005272162.1:c.141+387_141+388insTAACACAGG	XP_005272219.1:n.141+387_141+388insTAACACAGG
XM_006716932.1:c.987+387_987+388insTAACACAGG	XP_006716995.1:n.987+387_987+388insTAACACAGG
XM_011518140.1:c.1191+387_1191+388insTAACACAGG	XP_011516442.1:n.1191+387_1191+388insTAACACAGG
XM_011518141.1:c.1125+387_1125+388insTAACACAGG	XP_011516443.1:n.1125+387_1125+388insTAACACAGG
XM_011518142.1:c.1029+387_1029+388insTAACACAGG	XP_011516444.1:n.1029+387_1029+388insTAACACAGG
XM_011518143.1:c.1023+387_1023+388insTAACACAGG	XP_011516445.1:n.1023+387_1023+388insTAACACAGG
XM_011518144.1:c.1338+387_1338+388insTAACACAGG	XP_011516446.1:n.1338+387_1338+388insTAACACAGG
XM_011518145.1:c.882+387_882+388insTAACACAGG	XP_011516447.1:n.882+387_882+388insTAACACAGG
XM_011518146.1:c.1023+387_1023+388insTAACACAGG	XP_011516448.1:n.1023+387_1023+388insTAACACAGG
XR_929703.1:n.1514+387_1514+388insTAACACAGG
NM_001353193.1:c.1338+387_1338+388insTAACACAGG	NP_001340122.1:n.1338+387_1338+388insTAACACAGG
NM_001353194.1:c.1110+387_1110+388insTAACACAGG	NP_001340123.1:n.1110+387_1110+388insTAACACAGG
NM_001353195.1:c.921+387_921+388insTAACACAGG	NP_001340124.1:n.921+387_921+388insTAACACAGG
NM_001353196.1:c.1182+387_1182+388insTAACACAGG	NP_001340125.1:n.1182+387_1182+388insTAACACAGG
NM_001353197.1:c.1176+387_1176+388insTAACACAGG	NP_001340126.1:n.1176+387_1176+388insTAACACAGG
NM_001353198.1:c.1176+387_1176+388insTAACACAGG	NP_001340127.1:n.1176+387_1176+388insTAACACAGG
NM_001353199.1:c.987+387_987+388insTAACACAGG	NP_001340128.1:n.987+387_987+388insTAACACAGG
NM_001353200.1:c.816+387_816+388insTAACACAGG	NP_001340129.1:n.816+387_816+388insTAACACAGG
NR_148391.1:n.1322+387_1322+388insTAACACAGG
NR_148392.1:n.1540+387_1540+388insTAACACAGG
NR_148393.1:n.1322+387_1322+388insTAACACAGG
NR_148394.1:n.1215+387_1215+388insTAACACAGG
NR_148395.1:n.1474+387_1474+388insTAACACAGG
NR_148396.1:n.1108+387_1108+388insTAACACAGG
NR_148397.1:n.1372+387_1372+388insTAACACAGG
NR_148398.1:n.1327+387_1327+388insTAACACAGG
NR_148399.1:n.1714+387_1714+388insTAACACAGG
NR_148400.1:n.1313+387_1313+388insTAACACAGG
XM_005272162.3:c.141+387_141+388insTAACACAGG	XP_005272219.1:n.141+387_141+388insTAACACAGG
XM_006716932.2:c.987+387_987+388insTAACACAGG	XP_006716995.1:n.987+387_987+388insTAACACAGG
XM_011518140.2:c.1191+387_1191+388insTAACACAGG	XP_011516442.1:n.1191+387_1191+388insTAACACAGG
XM_011518141.2:c.1125+387_1125+388insTAACACAGG	XP_011516443.1:n.1125+387_1125+388insTAACACAGG
XM_011518142.2:c.1029+387_1029+388insTAACACAGG	XP_011516444.1:n.1029+387_1029+388insTAACACAGG
XM_011518143.2:c.1023+387_1023+388insTAACACAGG	XP_011516445.1:n.1023+387_1023+388insTAACACAGG
XM_011518145.2:c.882+387_882+388insTAACACAGG	XP_011516447.1:n.882+387_882+388insTAACACAGG
XM_017014205.2:c.141+387_141+388insTAACACAGG	XP_016869694.1:n.141+387_141+388insTAACACAGG
XM_024447380.1:c.141+387_141+388insTAACACAGG	XP_024303148.1:n.141+387_141+388insTAACACAGG
XM_024447381.1:c.447+387_447+388insTAACACAGG	XP_024303149.1:n.447+387_447+388insTAACACAGG
XM_024447382.1:c.141+387_141+388insTAACACAGG	XP_024303150.1:n.141+387_141+388insTAACACAGG
XR_001746160.2:n.1442+387_1442+388insTAACACAGG
XR_001746162.2:n.1508+387_1508+388insTAACACAGG
XR_001746164.1:n.1225+387_1225+388insTAACACAGG
XR_001746166.2:n.1659+387_1659+388insTAACACAGG
NM_001077365.2:c.1272+387_1272+388insTAACACAGG MANE Select	NP_001070833.1:n.1272+387_1272+388insTAACACAGG
NM_001077366.2:c.1110+387_1110+388insTAACACAGG	NP_001070834.1:n.1110+387_1110+388insTAACACAGG
NM_001136113.2:c.1272+387_1272+388insTAACACAGG	NP_001129585.1:n.1272+387_1272+388insTAACACAGG
NM_001136114.2:c.921+387_921+388insTAACACAGG	NP_001129586.1:n.921+387_921+388insTAACACAGG
NM_001353193.2:c.1338+387_1338+388insTAACACAGG	NP_001340122.2:n.1338+387_1338+388insTAACACAGG
NM_001353194.2:c.1110+387_1110+388insTAACACAGG	NP_001340123.1:n.1110+387_1110+388insTAACACAGG
NM_001353195.2:c.921+387_921+388insTAACACAGG	NP_001340124.1:n.921+387_921+388insTAACACAGG
NM_001353196.2:c.1182+387_1182+388insTAACACAGG	NP_001340125.1:n.1182+387_1182+388insTAACACAGG
NM_001353197.2:c.1176+387_1176+388insTAACACAGG	NP_001340126.2:n.1176+387_1176+388insTAACACAGG
NM_001353198.2:c.1176+387_1176+388insTAACACAGG	NP_001340127.2:n.1176+387_1176+388insTAACACAGG
NM_001353199.2:c.987+387_987+388insTAACACAGG	NP_001340128.2:n.987+387_987+388insTAACACAGG
NM_001353200.2:c.816+387_816+388insTAACACAGG	NP_001340129.1:n.816+387_816+388insTAACACAGG
NM_001374689.1:c.1260+387_1260+388insTAACACAGG	NP_001361618.1:n.1260+387_1260+388insTAACACAGG
NM_001374690.1:c.1272+387_1272+388insTAACACAGG	NP_001361619.1:n.1272+387_1272+388insTAACACAGG
NM_001374691.1:c.921+387_921+388insTAACACAGG	NP_001361620.1:n.921+387_921+388insTAACACAGG
NM_001374692.1:c.921+387_921+388insTAACACAGG	NP_001361621.1:n.921+387_921+388insTAACACAGG
NM_001374693.1:c.921+387_921+388insTAACACAGG	NP_001361622.1:n.921+387_921+388insTAACACAGG
NM_001374695.1:c.882+387_882+388insTAACACAGG	NP_001361624.1:n.882+387_882+388insTAACACAGG
NM_007171.4:c.1338+387_1338+388insTAACACAGG	NP_009102.4:n.1338+387_1338+388insTAACACAGG
NR_148391.2:n.1306+387_1306+388insTAACACAGG
NR_148392.2:n.1524+387_1524+388insTAACACAGG
NR_148393.2:n.1306+387_1306+388insTAACACAGG
NR_148394.2:n.1199+387_1199+388insTAACACAGG
NR_148395.2:n.1458+387_1458+388insTAACACAGG
NR_148396.2:n.1092+387_1092+388insTAACACAGG
NR_148397.2:n.1356+387_1356+388insTAACACAGG
NR_148398.2:n.1311+387_1311+388insTAACACAGG
NR_148399.2:n.1698+387_1698+388insTAACACAGG
NR_148400.2:n.1297+387_1297+388insTAACACAGG