Canonical Allele Identifier: CA1129622641

Gene: POMT1

Linked Data

• dbSNP Id: rs1947503779
• gnomAD v3: 9-131513178-T-TGCAGCTGTTAGTTCGAGGGGACCAGGCTCTGTGTGGTCCCGACAGCA
• gnomAD v4: 9-131513178-T-TGCAGCTGTTAGTTCGAGGGGACCAGGCTCTGTGTGGTCCCGACAGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131513179_131513225dup , CM000671.2:g.131513179_131513225dup	GRCh38
NC_000009.11:g.134388566_134388612dup , CM000671.1:g.134388566_134388612dup	GRCh37
NC_000009.10:g.133378387_133378433dup	NCBI36
NG_008896.1:g.15278_15324dup
NG_008896.2:g.15278_15324dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.921-60_921-14dup	ENSP00000343034.7:n.921-60_921-14dup
ENST00000404875.7:n.1623-60_1623-14dup
ENST00000423007.6:c.1140-60_1140-14dup	ENSP00000404119.2:n.1140-60_1140-14dup
ENST00000677295.2:c.*1427-60_*1427-14dup	ENSP00000504346.2:n.*1427-60_*1427-14dup
ENST00000678264.2:c.*1266-60_*1266-14dup	ENSP00000503157.2:n.*1266-60_*1266-14dup
ENST00000678942.2:c.*636-60_*636-14dup	ENSP00000504690.2:n.*636-60_*636-14dup
ENST00000682070.1:n.1548-60_1548-14dup
ENST00000682813.1:n.1348-60_1348-14dup
ENST00000683392.1:n.3830-60_3830-14dup
ENST00000683712.1:n.1488-60_1488-14dup
ENST00000683900.1:n.2983-60_2983-14dup
ENST00000684062.1:n.1749-60_1749-14dup
ENST00000684579.1:n.2929-60_2929-14dup
ENST00000341012.12:c.921-60_921-14dup	ENSP00000343034.7:n.921-60_921-14dup
ENST00000372220.5:c.-49-60_-49-14dup	ENSP00000361294.5:n.-49-60_-49-14dup
ENST00000372228.9:c.1149-60_1149-14dup	ENSP00000361302.3:n.1149-60_1149-14dup
ENST00000402686.8:c.1083-60_1083-14dup MANE Select	ENSP00000385797.4:n.1083-60_1083-14dup
ENST00000676640.1:c.1083-60_1083-14dup	ENSP00000503281.1:n.1083-60_1083-14dup
ENST00000676803.1:c.258-60_258-14dup	ENSP00000503093.1:n.258-60_258-14dup
ENST00000676835.1:c.*298-60_*298-14dup	ENSP00000502911.1:n.*298-60_*298-14dup
ENST00000677029.1:c.627-60_627-14dup	ENSP00000502936.1:n.627-60_627-14dup
ENST00000677099.1:c.*793-60_*793-14dup	ENSP00000504553.1:n.*793-60_*793-14dup
ENST00000677216.1:c.732-60_732-14dup	ENSP00000503772.1:n.732-60_732-14dup
ENST00000677293.1:c.258-60_258-14dup	ENSP00000504278.1:n.258-60_258-14dup
ENST00000677295.1:c.*460-60_*460-14dup	ENSP00000504346.1:n.*460-60_*460-14dup
ENST00000677444.1:c.889-60_889-14dup
ENST00000677586.1:n.564-60_564-14dup
ENST00000677626.1:c.824+1712_824+1758dup	ENSP00000503552.1:n.824+1712_824+1758dup
ENST00000677677.1:n.1043-60_1043-14dup
ENST00000677853.1:c.*91-60_*91-14dup	ENSP00000503488.1:n.*91-60_*91-14dup
ENST00000677944.1:c.345-60_345-14dup
ENST00000678264.1:c.*460-60_*460-14dup	ENSP00000503157.1:n.*460-60_*460-14dup
ENST00000678303.1:c.993-60_993-14dup	ENSP00000503696.1:n.993-60_993-14dup
ENST00000678366.1:c.*1332-60_*1332-14dup	ENSP00000504353.1:n.*1332-60_*1332-14dup
ENST00000678546.1:c.*1028-60_*1028-14dup	ENSP00000503062.1:n.*1028-60_*1028-14dup
ENST00000678548.1:c.*1155-60_*1155-14dup	ENSP00000503934.1:n.*1155-60_*1155-14dup
ENST00000678626.1:n.780-60_780-14dup
ENST00000678733.1:c.256+1043_256+1089dup
ENST00000678739.1:c.*1409-60_*1409-14dup	ENSP00000503806.1:n.*1409-60_*1409-14dup
ENST00000678795.1:n.170-60_170-14dup
ENST00000678833.1:c.*530-60_*530-14dup	ENSP00000503893.1:n.*530-60_*530-14dup
ENST00000678942.1:c.263-60_263-14dup	ENSP00000504690.1:n.263-60_263-14dup
ENST00000679023.1:c.921-60_921-14dup	ENSP00000503718.1:n.921-60_921-14dup
ENST00000679073.1:c.461-60_461-14dup	ENSP00000504356.1:n.461-60_461-14dup
ENST00000679076.1:c.702-60_702-14dup
ENST00000679111.1:c.1083-60_1083-14dup	ENSP00000504257.1:n.1083-60_1083-14dup
ENST00000679189.1:c.732-60_732-14dup	ENSP00000503356.1:n.732-60_732-14dup
ENST00000341012.11:c.921-60_921-14dup	ENSP00000343034.7:n.921-60_921-14dup
ENST00000372228.7:c.1149-60_1149-14dup	ENSP00000361302.3:n.1149-60_1149-14dup
ENST00000402686.7:c.1083-60_1083-14dup	ENSP00000385797.3:n.1083-60_1083-14dup
ENST00000404875.6:c.732-60_732-14dup	ENSP00000384531.2:n.732-60_732-14dup
ENST00000423007.5:c.1083-60_1083-14dup	ENSP00000404119.1:n.1083-60_1083-14dup
ENST00000441334.5:c.798-60_798-14dup	ENSP00000395060.1:n.798-60_798-14dup
ENST00000462375.5:n.909-60_909-14dup
ENST00000485278.5:n.1638-60_1638-14dup
NM_001077365.1:c.1083-60_1083-14dup	NP_001070833.1:n.1083-60_1083-14dup
NM_001077366.1:c.921-60_921-14dup	NP_001070834.1:n.921-60_921-14dup
NM_001136113.1:c.1083-60_1083-14dup	NP_001129585.1:n.1083-60_1083-14dup
NM_001136114.1:c.732-60_732-14dup	NP_001129586.1:n.732-60_732-14dup
NM_007171.3:c.1149-60_1149-14dup	NP_009102.3:n.1149-60_1149-14dup
XM_005272156.1:c.1149-60_1149-14dup	XP_005272213.1:n.1149-60_1149-14dup
XM_005272158.1:c.987-60_987-14dup	XP_005272215.1:n.987-60_987-14dup
XM_005272159.1:c.798-60_798-14dup	XP_005272216.1:n.798-60_798-14dup
XM_005272162.1:c.-49-60_-49-14dup	XP_005272219.1:n.-49-60_-49-14dup
XM_006716932.1:c.798-60_798-14dup	XP_006716995.1:n.798-60_798-14dup
XM_011518140.1:c.1002-60_1002-14dup	XP_011516442.1:n.1002-60_1002-14dup
XM_011518141.1:c.936-60_936-14dup	XP_011516443.1:n.936-60_936-14dup
XM_011518142.1:c.840-60_840-14dup	XP_011516444.1:n.840-60_840-14dup
XM_011518143.1:c.834-60_834-14dup	XP_011516445.1:n.834-60_834-14dup
XM_011518144.1:c.1149-60_1149-14dup	XP_011516446.1:n.1149-60_1149-14dup
XM_011518145.1:c.693-60_693-14dup	XP_011516447.1:n.693-60_693-14dup
XM_011518146.1:c.834-60_834-14dup	XP_011516448.1:n.834-60_834-14dup
XR_929703.1:n.1325-60_1325-14dup
NM_001353193.1:c.1149-60_1149-14dup	NP_001340122.1:n.1149-60_1149-14dup
NM_001353194.1:c.921-60_921-14dup	NP_001340123.1:n.921-60_921-14dup
NM_001353195.1:c.732-60_732-14dup	NP_001340124.1:n.732-60_732-14dup
NM_001353196.1:c.993-60_993-14dup	NP_001340125.1:n.993-60_993-14dup
NM_001353197.1:c.987-60_987-14dup	NP_001340126.1:n.987-60_987-14dup
NM_001353198.1:c.987-60_987-14dup	NP_001340127.1:n.987-60_987-14dup
NM_001353199.1:c.798-60_798-14dup	NP_001340128.1:n.798-60_798-14dup
NM_001353200.1:c.627-60_627-14dup	NP_001340129.1:n.627-60_627-14dup
NR_148391.1:n.1133-60_1133-14dup
NR_148392.1:n.1351-60_1351-14dup
NR_148393.1:n.1133-60_1133-14dup
NR_148394.1:n.1026-60_1026-14dup
NR_148395.1:n.1285-60_1285-14dup
NR_148396.1:n.919-60_919-14dup
NR_148397.1:n.1183-60_1183-14dup
NR_148398.1:n.1138-60_1138-14dup
NR_148399.1:n.1525-60_1525-14dup
NR_148400.1:n.1124-60_1124-14dup
XM_005272162.3:c.-49-60_-49-14dup	XP_005272219.1:n.-49-60_-49-14dup
XM_006716932.2:c.798-60_798-14dup	XP_006716995.1:n.798-60_798-14dup
XM_011518140.2:c.1002-60_1002-14dup	XP_011516442.1:n.1002-60_1002-14dup
XM_011518141.2:c.936-60_936-14dup	XP_011516443.1:n.936-60_936-14dup
XM_011518142.2:c.840-60_840-14dup	XP_011516444.1:n.840-60_840-14dup
XM_011518143.2:c.834-60_834-14dup	XP_011516445.1:n.834-60_834-14dup
XM_011518145.2:c.693-60_693-14dup	XP_011516447.1:n.693-60_693-14dup
XM_017014205.2:c.-49-60_-49-14dup	XP_016869694.1:n.-49-60_-49-14dup
XM_024447380.1:c.-49-60_-49-14dup	XP_024303148.1:n.-49-60_-49-14dup
XM_024447381.1:c.258-60_258-14dup	XP_024303149.1:n.258-60_258-14dup
XM_024447382.1:c.-49-60_-49-14dup	XP_024303150.1:n.-49-60_-49-14dup
XR_001746160.2:n.1253-60_1253-14dup
XR_001746162.2:n.1319-60_1319-14dup
XR_001746164.1:n.1036-60_1036-14dup
XR_001746166.2:n.1470-60_1470-14dup
NM_001077365.2:c.1083-60_1083-14dup MANE Select	NP_001070833.1:n.1083-60_1083-14dup
NM_001077366.2:c.921-60_921-14dup	NP_001070834.1:n.921-60_921-14dup
NM_001136113.2:c.1083-60_1083-14dup	NP_001129585.1:n.1083-60_1083-14dup
NM_001136114.2:c.732-60_732-14dup	NP_001129586.1:n.732-60_732-14dup
NM_001353193.2:c.1149-60_1149-14dup	NP_001340122.2:n.1149-60_1149-14dup
NM_001353194.2:c.921-60_921-14dup	NP_001340123.1:n.921-60_921-14dup
NM_001353195.2:c.732-60_732-14dup	NP_001340124.1:n.732-60_732-14dup
NM_001353196.2:c.993-60_993-14dup	NP_001340125.1:n.993-60_993-14dup
NM_001353197.2:c.987-60_987-14dup	NP_001340126.2:n.987-60_987-14dup
NM_001353198.2:c.987-60_987-14dup	NP_001340127.2:n.987-60_987-14dup
NM_001353199.2:c.798-60_798-14dup	NP_001340128.2:n.798-60_798-14dup
NM_001353200.2:c.627-60_627-14dup	NP_001340129.1:n.627-60_627-14dup
NM_001374689.1:c.1071-60_1071-14dup	NP_001361618.1:n.1071-60_1071-14dup
NM_001374690.1:c.1083-60_1083-14dup	NP_001361619.1:n.1083-60_1083-14dup
NM_001374691.1:c.732-60_732-14dup	NP_001361620.1:n.732-60_732-14dup
NM_001374692.1:c.732-60_732-14dup	NP_001361621.1:n.732-60_732-14dup
NM_001374693.1:c.824+1712_824+1758dup	NP_001361622.1:n.824+1712_824+1758dup
NM_001374695.1:c.693-60_693-14dup	NP_001361624.1:n.693-60_693-14dup
NM_007171.4:c.1149-60_1149-14dup	NP_009102.4:n.1149-60_1149-14dup
NR_148391.2:n.1117-60_1117-14dup
NR_148392.2:n.1335-60_1335-14dup
NR_148393.2:n.1117-60_1117-14dup
NR_148394.2:n.1010-60_1010-14dup
NR_148395.2:n.1269-60_1269-14dup
NR_148396.2:n.903-60_903-14dup
NR_148397.2:n.1167-60_1167-14dup
NR_148398.2:n.1122-60_1122-14dup
NR_148399.2:n.1509-60_1509-14dup
NR_148400.2:n.1108-60_1108-14dup