Canonical Allele Identifier: CA1129598058

Gene: POMT1

Linked Data

• dbSNP Id: rs1948320192
• gnomAD v3: 9-131515839-C-CTA
• gnomAD v4: 9-131515839-C-CTA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131515839_131515840insTA , CM000671.2:g.131515839_131515840insTA	GRCh38
NC_000009.11:g.134391226_134391227insTA , CM000671.1:g.134391226_134391227insTA	GRCh37
NC_000009.10:g.133381047_133381048insTA	NCBI36
NG_008896.1:g.17938_17939insTA
NG_008896.2:g.17938_17939insTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1110+317_1110+318insTA	ENSP00000343034.7:n.1110+317_1110+318insTA
ENST00000404875.7:n.1812+317_1812+318insTA
ENST00000423007.6:c.1329+317_1329+318insTA	ENSP00000404119.2:n.1329+317_1329+318insTA
ENST00000677295.2:c.*1616+317_*1616+318insTA	ENSP00000504346.2:n.*1616+317_*1616+318insTA
ENST00000678264.2:c.*1455+317_*1455+318insTA	ENSP00000503157.2:n.*1455+317_*1455+318insTA
ENST00000682070.1:n.1737+317_1737+318insTA
ENST00000682539.1:c.97+317_97+318insTA
ENST00000682813.1:n.1537+317_1537+318insTA
ENST00000683392.1:n.4019+317_4019+318insTA
ENST00000683712.1:n.1677+317_1677+318insTA
ENST00000683900.1:n.3172+317_3172+318insTA
ENST00000684062.1:n.1938+317_1938+318insTA
ENST00000684579.1:n.3118+317_3118+318insTA
ENST00000341012.12:c.1110+317_1110+318insTA	ENSP00000343034.7:n.1110+317_1110+318insTA
ENST00000372220.5:c.141+317_141+318insTA	ENSP00000361294.5:n.141+317_141+318insTA
ENST00000372228.9:c.1338+317_1338+318insTA	ENSP00000361302.3:n.1338+317_1338+318insTA
ENST00000402686.8:c.1272+317_1272+318insTA MANE Select	ENSP00000385797.4:n.1272+317_1272+318insTA
ENST00000676640.1:c.1272+317_1272+318insTA	ENSP00000503281.1:n.1272+317_1272+318insTA
ENST00000676803.1:c.447+317_447+318insTA	ENSP00000503093.1:n.447+317_447+318insTA
ENST00000676835.1:c.*487+317_*487+318insTA	ENSP00000502911.1:n.*487+317_*487+318insTA
ENST00000677029.1:c.816+317_816+318insTA	ENSP00000502936.1:n.816+317_816+318insTA
ENST00000677099.1:c.*982+317_*982+318insTA	ENSP00000504553.1:n.*982+317_*982+318insTA
ENST00000677216.1:c.921+317_921+318insTA	ENSP00000503772.1:n.921+317_921+318insTA
ENST00000677295.1:c.*649+317_*649+318insTA	ENSP00000504346.1:n.*649+317_*649+318insTA
ENST00000677444.1:c.1078+317_1078+318insTA
ENST00000677586.1:n.753+317_753+318insTA
ENST00000677626.1:c.921+317_921+318insTA	ENSP00000503552.1:n.921+317_921+318insTA
ENST00000677677.1:n.1232+317_1232+318insTA
ENST00000677853.1:c.*280+317_*280+318insTA	ENSP00000503488.1:n.*280+317_*280+318insTA
ENST00000677944.1:c.534+317_534+318insTA
ENST00000678264.1:c.*649+317_*649+318insTA	ENSP00000503157.1:n.*649+317_*649+318insTA
ENST00000678303.1:c.1182+317_1182+318insTA	ENSP00000503696.1:n.1182+317_1182+318insTA
ENST00000678366.1:c.*1521+317_*1521+318insTA	ENSP00000504353.1:n.*1521+317_*1521+318insTA
ENST00000678546.1:c.*1217+317_*1217+318insTA	ENSP00000503062.1:n.*1217+317_*1217+318insTA
ENST00000678548.1:c.*1344+317_*1344+318insTA	ENSP00000503934.1:n.*1344+317_*1344+318insTA
ENST00000678626.1:n.969+317_969+318insTA
ENST00000678733.1:c.353+317_353+318insTA
ENST00000678739.1:c.*1598+317_*1598+318insTA	ENSP00000503806.1:n.*1598+317_*1598+318insTA
ENST00000678795.1:n.359+317_359+318insTA
ENST00000678833.1:c.*719+317_*719+318insTA	ENSP00000503893.1:n.*719+317_*719+318insTA
ENST00000678942.1:c.452+317_452+318insTA	ENSP00000504690.1:n.452+317_452+318insTA
ENST00000679023.1:c.1110+317_1110+318insTA	ENSP00000503718.1:n.1110+317_1110+318insTA
ENST00000679076.1:c.891+317_891+318insTA
ENST00000679111.1:c.1272+317_1272+318insTA	ENSP00000504257.1:n.1272+317_1272+318insTA
ENST00000679189.1:c.921+317_921+318insTA	ENSP00000503356.1:n.921+317_921+318insTA
ENST00000341012.11:c.1110+317_1110+318insTA	ENSP00000343034.7:n.1110+317_1110+318insTA
ENST00000372228.7:c.1338+317_1338+318insTA	ENSP00000361302.3:n.1338+317_1338+318insTA
ENST00000402686.7:c.1272+317_1272+318insTA	ENSP00000385797.3:n.1272+317_1272+318insTA
ENST00000404875.6:c.921+317_921+318insTA	ENSP00000384531.2:n.921+317_921+318insTA
ENST00000423007.5:c.1272+317_1272+318insTA	ENSP00000404119.1:n.1272+317_1272+318insTA
ENST00000485278.5:n.1827+317_1827+318insTA
NM_001077365.1:c.1272+317_1272+318insTA	NP_001070833.1:n.1272+317_1272+318insTA
NM_001077366.1:c.1110+317_1110+318insTA	NP_001070834.1:n.1110+317_1110+318insTA
NM_001136113.1:c.1272+317_1272+318insTA	NP_001129585.1:n.1272+317_1272+318insTA
NM_001136114.1:c.921+317_921+318insTA	NP_001129586.1:n.921+317_921+318insTA
NM_007171.3:c.1338+317_1338+318insTA	NP_009102.3:n.1338+317_1338+318insTA
XM_005272156.1:c.1338+317_1338+318insTA	XP_005272213.1:n.1338+317_1338+318insTA
XM_005272158.1:c.1176+317_1176+318insTA	XP_005272215.1:n.1176+317_1176+318insTA
XM_005272159.1:c.987+317_987+318insTA	XP_005272216.1:n.987+317_987+318insTA
XM_005272162.1:c.141+317_141+318insTA	XP_005272219.1:n.141+317_141+318insTA
XM_006716932.1:c.987+317_987+318insTA	XP_006716995.1:n.987+317_987+318insTA
XM_011518140.1:c.1191+317_1191+318insTA	XP_011516442.1:n.1191+317_1191+318insTA
XM_011518141.1:c.1125+317_1125+318insTA	XP_011516443.1:n.1125+317_1125+318insTA
XM_011518142.1:c.1029+317_1029+318insTA	XP_011516444.1:n.1029+317_1029+318insTA
XM_011518143.1:c.1023+317_1023+318insTA	XP_011516445.1:n.1023+317_1023+318insTA
XM_011518144.1:c.1338+317_1338+318insTA	XP_011516446.1:n.1338+317_1338+318insTA
XM_011518145.1:c.882+317_882+318insTA	XP_011516447.1:n.882+317_882+318insTA
XM_011518146.1:c.1023+317_1023+318insTA	XP_011516448.1:n.1023+317_1023+318insTA
XR_929703.1:n.1514+317_1514+318insTA
NM_001353193.1:c.1338+317_1338+318insTA	NP_001340122.1:n.1338+317_1338+318insTA
NM_001353194.1:c.1110+317_1110+318insTA	NP_001340123.1:n.1110+317_1110+318insTA
NM_001353195.1:c.921+317_921+318insTA	NP_001340124.1:n.921+317_921+318insTA
NM_001353196.1:c.1182+317_1182+318insTA	NP_001340125.1:n.1182+317_1182+318insTA
NM_001353197.1:c.1176+317_1176+318insTA	NP_001340126.1:n.1176+317_1176+318insTA
NM_001353198.1:c.1176+317_1176+318insTA	NP_001340127.1:n.1176+317_1176+318insTA
NM_001353199.1:c.987+317_987+318insTA	NP_001340128.1:n.987+317_987+318insTA
NM_001353200.1:c.816+317_816+318insTA	NP_001340129.1:n.816+317_816+318insTA
NR_148391.1:n.1322+317_1322+318insTA
NR_148392.1:n.1540+317_1540+318insTA
NR_148393.1:n.1322+317_1322+318insTA
NR_148394.1:n.1215+317_1215+318insTA
NR_148395.1:n.1474+317_1474+318insTA
NR_148396.1:n.1108+317_1108+318insTA
NR_148397.1:n.1372+317_1372+318insTA
NR_148398.1:n.1327+317_1327+318insTA
NR_148399.1:n.1714+317_1714+318insTA
NR_148400.1:n.1313+317_1313+318insTA
XM_005272162.3:c.141+317_141+318insTA	XP_005272219.1:n.141+317_141+318insTA
XM_006716932.2:c.987+317_987+318insTA	XP_006716995.1:n.987+317_987+318insTA
XM_011518140.2:c.1191+317_1191+318insTA	XP_011516442.1:n.1191+317_1191+318insTA
XM_011518141.2:c.1125+317_1125+318insTA	XP_011516443.1:n.1125+317_1125+318insTA
XM_011518142.2:c.1029+317_1029+318insTA	XP_011516444.1:n.1029+317_1029+318insTA
XM_011518143.2:c.1023+317_1023+318insTA	XP_011516445.1:n.1023+317_1023+318insTA
XM_011518145.2:c.882+317_882+318insTA	XP_011516447.1:n.882+317_882+318insTA
XM_017014205.2:c.141+317_141+318insTA	XP_016869694.1:n.141+317_141+318insTA
XM_024447380.1:c.141+317_141+318insTA	XP_024303148.1:n.141+317_141+318insTA
XM_024447381.1:c.447+317_447+318insTA	XP_024303149.1:n.447+317_447+318insTA
XM_024447382.1:c.141+317_141+318insTA	XP_024303150.1:n.141+317_141+318insTA
XR_001746160.2:n.1442+317_1442+318insTA
XR_001746162.2:n.1508+317_1508+318insTA
XR_001746164.1:n.1225+317_1225+318insTA
XR_001746166.2:n.1659+317_1659+318insTA
NM_001077365.2:c.1272+317_1272+318insTA MANE Select	NP_001070833.1:n.1272+317_1272+318insTA
NM_001077366.2:c.1110+317_1110+318insTA	NP_001070834.1:n.1110+317_1110+318insTA
NM_001136113.2:c.1272+317_1272+318insTA	NP_001129585.1:n.1272+317_1272+318insTA
NM_001136114.2:c.921+317_921+318insTA	NP_001129586.1:n.921+317_921+318insTA
NM_001353193.2:c.1338+317_1338+318insTA	NP_001340122.2:n.1338+317_1338+318insTA
NM_001353194.2:c.1110+317_1110+318insTA	NP_001340123.1:n.1110+317_1110+318insTA
NM_001353195.2:c.921+317_921+318insTA	NP_001340124.1:n.921+317_921+318insTA
NM_001353196.2:c.1182+317_1182+318insTA	NP_001340125.1:n.1182+317_1182+318insTA
NM_001353197.2:c.1176+317_1176+318insTA	NP_001340126.2:n.1176+317_1176+318insTA
NM_001353198.2:c.1176+317_1176+318insTA	NP_001340127.2:n.1176+317_1176+318insTA
NM_001353199.2:c.987+317_987+318insTA	NP_001340128.2:n.987+317_987+318insTA
NM_001353200.2:c.816+317_816+318insTA	NP_001340129.1:n.816+317_816+318insTA
NM_001374689.1:c.1260+317_1260+318insTA	NP_001361618.1:n.1260+317_1260+318insTA
NM_001374690.1:c.1272+317_1272+318insTA	NP_001361619.1:n.1272+317_1272+318insTA
NM_001374691.1:c.921+317_921+318insTA	NP_001361620.1:n.921+317_921+318insTA
NM_001374692.1:c.921+317_921+318insTA	NP_001361621.1:n.921+317_921+318insTA
NM_001374693.1:c.921+317_921+318insTA	NP_001361622.1:n.921+317_921+318insTA
NM_001374695.1:c.882+317_882+318insTA	NP_001361624.1:n.882+317_882+318insTA
NM_007171.4:c.1338+317_1338+318insTA	NP_009102.4:n.1338+317_1338+318insTA
NR_148391.2:n.1306+317_1306+318insTA
NR_148392.2:n.1524+317_1524+318insTA
NR_148393.2:n.1306+317_1306+318insTA
NR_148394.2:n.1199+317_1199+318insTA
NR_148395.2:n.1458+317_1458+318insTA
NR_148396.2:n.1092+317_1092+318insTA
NR_148397.2:n.1356+317_1356+318insTA
NR_148398.2:n.1311+317_1311+318insTA
NR_148399.2:n.1698+317_1698+318insTA
NR_148400.2:n.1297+317_1297+318insTA