Canonical Allele Identifier: CA2692217702

Gene: POMT1

Linked Data

• gnomAD v4: 9-131513194-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131513194A>T , CM000671.2:g.131513194A>T	GRCh38
NC_000009.11:g.134388581A>T , CM000671.1:g.134388581A>T	GRCh37
NC_000009.10:g.133378402A>T	NCBI36
NG_008896.1:g.15293A>T
NG_008896.2:g.15293A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.921-45A>T	ENSP00000343034.7:n.921-45A>T
ENST00000404875.7:n.1623-45A>T
ENST00000423007.6:c.1140-45A>T	ENSP00000404119.2:n.1140-45A>T
ENST00000677295.2:c.*1427-45A>T	ENSP00000504346.2:n.*1427-45A>T
ENST00000678264.2:c.*1266-45A>T	ENSP00000503157.2:n.*1266-45A>T
ENST00000678942.2:c.*636-45A>T	ENSP00000504690.2:n.*636-45A>T
ENST00000682070.1:n.1548-45A>T
ENST00000682813.1:n.1348-45A>T
ENST00000683392.1:n.3830-45A>T
ENST00000683712.1:n.1488-45A>T
ENST00000683900.1:n.2983-45A>T
ENST00000684062.1:n.1749-45A>T
ENST00000684579.1:n.2929-45A>T
ENST00000341012.12:c.921-45A>T	ENSP00000343034.7:n.921-45A>T
ENST00000372220.5:c.-49-45A>T	ENSP00000361294.5:n.-49-45A>T
ENST00000372228.9:c.1149-45A>T	ENSP00000361302.3:n.1149-45A>T
ENST00000402686.8:c.1083-45A>T MANE Select	ENSP00000385797.4:n.1083-45A>T
ENST00000676640.1:c.1083-45A>T	ENSP00000503281.1:n.1083-45A>T
ENST00000676803.1:c.258-45A>T	ENSP00000503093.1:n.258-45A>T
ENST00000676835.1:c.*298-45A>T	ENSP00000502911.1:n.*298-45A>T
ENST00000677029.1:c.627-45A>T	ENSP00000502936.1:n.627-45A>T
ENST00000677099.1:c.*793-45A>T	ENSP00000504553.1:n.*793-45A>T
ENST00000677216.1:c.732-45A>T	ENSP00000503772.1:n.732-45A>T
ENST00000677293.1:c.258-45A>T	ENSP00000504278.1:n.258-45A>T
ENST00000677295.1:c.*460-45A>T	ENSP00000504346.1:n.*460-45A>T
ENST00000677444.1:c.889-45A>T
ENST00000677586.1:n.564-45A>T
ENST00000677626.1:c.824+1727A>T	ENSP00000503552.1:n.824+1727A>T
ENST00000677677.1:n.1043-45A>T
ENST00000677853.1:c.*91-45A>T	ENSP00000503488.1:n.*91-45A>T
ENST00000677944.1:c.345-45A>T
ENST00000678264.1:c.*460-45A>T	ENSP00000503157.1:n.*460-45A>T
ENST00000678303.1:c.993-45A>T	ENSP00000503696.1:n.993-45A>T
ENST00000678366.1:c.*1332-45A>T	ENSP00000504353.1:n.*1332-45A>T
ENST00000678546.1:c.*1028-45A>T	ENSP00000503062.1:n.*1028-45A>T
ENST00000678548.1:c.*1155-45A>T	ENSP00000503934.1:n.*1155-45A>T
ENST00000678626.1:n.780-45A>T
ENST00000678733.1:c.256+1058A>T
ENST00000678739.1:c.*1409-45A>T	ENSP00000503806.1:n.*1409-45A>T
ENST00000678795.1:n.170-45A>T
ENST00000678833.1:c.*530-45A>T	ENSP00000503893.1:n.*530-45A>T
ENST00000678942.1:c.263-45A>T	ENSP00000504690.1:n.263-45A>T
ENST00000679023.1:c.921-45A>T	ENSP00000503718.1:n.921-45A>T
ENST00000679073.1:c.461-45A>T	ENSP00000504356.1:n.461-45A>T
ENST00000679076.1:c.702-45A>T
ENST00000679111.1:c.1083-45A>T	ENSP00000504257.1:n.1083-45A>T
ENST00000679189.1:c.732-45A>T	ENSP00000503356.1:n.732-45A>T
ENST00000341012.11:c.921-45A>T	ENSP00000343034.7:n.921-45A>T
ENST00000372228.7:c.1149-45A>T	ENSP00000361302.3:n.1149-45A>T
ENST00000402686.7:c.1083-45A>T	ENSP00000385797.3:n.1083-45A>T
ENST00000404875.6:c.732-45A>T	ENSP00000384531.2:n.732-45A>T
ENST00000423007.5:c.1083-45A>T	ENSP00000404119.1:n.1083-45A>T
ENST00000441334.5:c.798-45A>T	ENSP00000395060.1:n.798-45A>T
ENST00000462375.5:n.909-45A>T
ENST00000485278.5:n.1638-45A>T
NM_001077365.1:c.1083-45A>T	NP_001070833.1:n.1083-45A>T
NM_001077366.1:c.921-45A>T	NP_001070834.1:n.921-45A>T
NM_001136113.1:c.1083-45A>T	NP_001129585.1:n.1083-45A>T
NM_001136114.1:c.732-45A>T	NP_001129586.1:n.732-45A>T
NM_007171.3:c.1149-45A>T	NP_009102.3:n.1149-45A>T
XM_005272156.1:c.1149-45A>T	XP_005272213.1:n.1149-45A>T
XM_005272158.1:c.987-45A>T	XP_005272215.1:n.987-45A>T
XM_005272159.1:c.798-45A>T	XP_005272216.1:n.798-45A>T
XM_005272162.1:c.-49-45A>T	XP_005272219.1:n.-49-45A>T
XM_006716932.1:c.798-45A>T	XP_006716995.1:n.798-45A>T
XM_011518140.1:c.1002-45A>T	XP_011516442.1:n.1002-45A>T
XM_011518141.1:c.936-45A>T	XP_011516443.1:n.936-45A>T
XM_011518142.1:c.840-45A>T	XP_011516444.1:n.840-45A>T
XM_011518143.1:c.834-45A>T	XP_011516445.1:n.834-45A>T
XM_011518144.1:c.1149-45A>T	XP_011516446.1:n.1149-45A>T
XM_011518145.1:c.693-45A>T	XP_011516447.1:n.693-45A>T
XM_011518146.1:c.834-45A>T	XP_011516448.1:n.834-45A>T
XR_929703.1:n.1325-45A>T
NM_001353193.1:c.1149-45A>T	NP_001340122.1:n.1149-45A>T
NM_001353194.1:c.921-45A>T	NP_001340123.1:n.921-45A>T
NM_001353195.1:c.732-45A>T	NP_001340124.1:n.732-45A>T
NM_001353196.1:c.993-45A>T	NP_001340125.1:n.993-45A>T
NM_001353197.1:c.987-45A>T	NP_001340126.1:n.987-45A>T
NM_001353198.1:c.987-45A>T	NP_001340127.1:n.987-45A>T
NM_001353199.1:c.798-45A>T	NP_001340128.1:n.798-45A>T
NM_001353200.1:c.627-45A>T	NP_001340129.1:n.627-45A>T
NR_148391.1:n.1133-45A>T
NR_148392.1:n.1351-45A>T
NR_148393.1:n.1133-45A>T
NR_148394.1:n.1026-45A>T
NR_148395.1:n.1285-45A>T
NR_148396.1:n.919-45A>T
NR_148397.1:n.1183-45A>T
NR_148398.1:n.1138-45A>T
NR_148399.1:n.1525-45A>T
NR_148400.1:n.1124-45A>T
XM_005272162.3:c.-49-45A>T	XP_005272219.1:n.-49-45A>T
XM_006716932.2:c.798-45A>T	XP_006716995.1:n.798-45A>T
XM_011518140.2:c.1002-45A>T	XP_011516442.1:n.1002-45A>T
XM_011518141.2:c.936-45A>T	XP_011516443.1:n.936-45A>T
XM_011518142.2:c.840-45A>T	XP_011516444.1:n.840-45A>T
XM_011518143.2:c.834-45A>T	XP_011516445.1:n.834-45A>T
XM_011518145.2:c.693-45A>T	XP_011516447.1:n.693-45A>T
XM_017014205.2:c.-49-45A>T	XP_016869694.1:n.-49-45A>T
XM_024447380.1:c.-49-45A>T	XP_024303148.1:n.-49-45A>T
XM_024447381.1:c.258-45A>T	XP_024303149.1:n.258-45A>T
XM_024447382.1:c.-49-45A>T	XP_024303150.1:n.-49-45A>T
XR_001746160.2:n.1253-45A>T
XR_001746162.2:n.1319-45A>T
XR_001746164.1:n.1036-45A>T
XR_001746166.2:n.1470-45A>T
NM_001077365.2:c.1083-45A>T MANE Select	NP_001070833.1:n.1083-45A>T
NM_001077366.2:c.921-45A>T	NP_001070834.1:n.921-45A>T
NM_001136113.2:c.1083-45A>T	NP_001129585.1:n.1083-45A>T
NM_001136114.2:c.732-45A>T	NP_001129586.1:n.732-45A>T
NM_001353193.2:c.1149-45A>T	NP_001340122.2:n.1149-45A>T
NM_001353194.2:c.921-45A>T	NP_001340123.1:n.921-45A>T
NM_001353195.2:c.732-45A>T	NP_001340124.1:n.732-45A>T
NM_001353196.2:c.993-45A>T	NP_001340125.1:n.993-45A>T
NM_001353197.2:c.987-45A>T	NP_001340126.2:n.987-45A>T
NM_001353198.2:c.987-45A>T	NP_001340127.2:n.987-45A>T
NM_001353199.2:c.798-45A>T	NP_001340128.2:n.798-45A>T
NM_001353200.2:c.627-45A>T	NP_001340129.1:n.627-45A>T
NM_001374689.1:c.1071-45A>T	NP_001361618.1:n.1071-45A>T
NM_001374690.1:c.1083-45A>T	NP_001361619.1:n.1083-45A>T
NM_001374691.1:c.732-45A>T	NP_001361620.1:n.732-45A>T
NM_001374692.1:c.732-45A>T	NP_001361621.1:n.732-45A>T
NM_001374693.1:c.824+1727A>T	NP_001361622.1:n.824+1727A>T
NM_001374695.1:c.693-45A>T	NP_001361624.1:n.693-45A>T
NM_007171.4:c.1149-45A>T	NP_009102.4:n.1149-45A>T
NR_148391.2:n.1117-45A>T
NR_148392.2:n.1335-45A>T
NR_148393.2:n.1117-45A>T
NR_148394.2:n.1010-45A>T
NR_148395.2:n.1269-45A>T
NR_148396.2:n.903-45A>T
NR_148397.2:n.1167-45A>T
NR_148398.2:n.1122-45A>T
NR_148399.2:n.1509-45A>T
NR_148400.2:n.1108-45A>T