Canonical Allele Identifier: CA375311889

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134394268G>C (hg19) ; chr9:g.131518881G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518881G>C , CM000671.2:g.131518881G>C	GRCh38
NC_000009.11:g.134394268G>C , CM000671.1:g.134394268G>C	GRCh37
NC_000009.10:g.133384089G>C	NCBI36
NG_008896.1:g.20980G>C
NG_008896.2:g.20980G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1248G>C	ENSP00000343034.7:p.Glu416Asp
ENST00000404875.7:n.1950G>C
ENST00000423007.6:c.1467G>C	ENSP00000404119.2:p.Glu489Asp
ENST00000677295.2:c.*1754G>C	ENSP00000504346.2:n.*1754G>C
ENST00000678264.2:c.*1593G>C	ENSP00000503157.2:n.*1593G>C
ENST00000682070.1:n.1875G>C
ENST00000682539.1:c.348G>C
ENST00000682813.1:n.1814G>C
ENST00000683392.1:n.4157G>C
ENST00000683712.1:n.1815G>C
ENST00000683900.1:n.3310G>C
ENST00000684062.1:n.2076G>C
ENST00000684579.1:n.3256G>C
ENST00000684679.1:n.637G>C
ENST00000341012.12:c.1248G>C	ENSP00000343034.7:p.Glu416Asp
ENST00000372220.5:c.279G>C	ENSP00000361294.5:p.Glu93Asp
ENST00000372228.9:c.1476G>C	ENSP00000361302.3:p.Glu492Asp
ENST00000402686.8:c.1410G>C MANE Select	ENSP00000385797.4:p.Glu470Asp
ENST00000676640.1:c.1410G>C	ENSP00000503281.1:p.Glu470Asp
ENST00000676803.1:c.585G>C	ENSP00000503093.1:p.Glu195Asp
ENST00000676835.1:c.*625G>C	ENSP00000502911.1:n.*625G>C
ENST00000677029.1:c.954G>C	ENSP00000502936.1:p.Glu318Asp
ENST00000677099.1:c.*1120G>C	ENSP00000504553.1:n.*1120G>C
ENST00000677216.1:c.1059G>C	ENSP00000503772.1:p.Glu353Asp
ENST00000677221.1:n.435G>C
ENST00000677295.1:c.*787G>C	ENSP00000504346.1:n.*787G>C
ENST00000677444.1:c.1355G>C
ENST00000677586.1:n.891G>C
ENST00000677626.1:c.1059G>C	ENSP00000503552.1:p.Glu353Asp
ENST00000677677.1:n.1370G>C
ENST00000677853.1:c.*418G>C	ENSP00000503488.1:n.*418G>C
ENST00000678202.1:n.569G>C
ENST00000678264.1:c.*787G>C	ENSP00000503157.1:n.*787G>C
ENST00000678303.1:c.1320G>C	ENSP00000503696.1:p.Glu440Asp
ENST00000678366.1:c.*1659G>C	ENSP00000504353.1:n.*1659G>C
ENST00000678546.1:c.*1355G>C	ENSP00000503062.1:n.*1355G>C
ENST00000678548.1:c.*1482G>C	ENSP00000503934.1:n.*1482G>C
ENST00000678626.1:n.1246G>C
ENST00000678733.1:c.491G>C
ENST00000678739.1:c.*1736G>C	ENSP00000503806.1:n.*1736G>C
ENST00000678833.1:c.*857G>C	ENSP00000503893.1:n.*857G>C
ENST00000679023.1:c.1248G>C	ENSP00000503718.1:p.Glu416Asp
ENST00000679076.1:c.1029G>C
ENST00000679111.1:c.*166G>C	ENSP00000504257.1:n.*166G>C
ENST00000679189.1:c.1059G>C	ENSP00000503356.1:p.Glu353Asp
ENST00000341012.11:c.1248G>C	ENSP00000343034.7:p.Glu416Asp
ENST00000372220.4:c.273G>C	ENSP00000361294.4:p.Glu91Asp
ENST00000372228.7:c.1476G>C	ENSP00000361302.3:p.Glu492Asp
ENST00000402686.7:c.1410G>C	ENSP00000385797.3:p.Glu470Asp
ENST00000404875.6:c.1059G>C	ENSP00000384531.2:p.Glu353Asp
ENST00000423007.5:c.1410G>C	ENSP00000404119.1:p.Glu470Asp
ENST00000467848.1:n.114G>C
ENST00000485278.5:n.1965G>C
NM_001077365.1:c.1410G>C	NP_001070833.1:p.Glu470Asp
NM_001077366.1:c.1248G>C	NP_001070834.1:p.Glu416Asp
NM_001136113.1:c.1410G>C	NP_001129585.1:p.Glu470Asp
NM_001136114.1:c.1059G>C	NP_001129586.1:p.Glu353Asp
NM_007171.3:c.1476G>C	NP_009102.3:p.Glu492Asp
XM_005272156.1:c.1476G>C	XP_005272213.1:p.Glu492Asp
XM_005272158.1:c.1314G>C	XP_005272215.1:p.Glu438Asp
XM_005272159.1:c.1125G>C	XP_005272216.1:p.Glu375Asp
XM_005272162.1:c.279G>C	XP_005272219.1:p.Glu93Asp
XM_006716932.1:c.1125G>C	XP_006716995.1:p.Glu375Asp
XM_011518140.1:c.1329G>C	XP_011516442.1:p.Glu443Asp
XM_011518141.1:c.1263G>C	XP_011516443.1:p.Glu421Asp
XM_011518142.1:c.1167G>C	XP_011516444.1:p.Glu389Asp
XM_011518143.1:c.1161G>C	XP_011516445.1:p.Glu387Asp
XM_011518144.1:c.*166G>C	XP_011516446.1:n.*166G>C
XM_011518145.1:c.1020G>C	XP_011516447.1:p.Glu340Asp
XM_011518146.1:c.*166G>C	XP_011516448.1:n.*166G>C
XM_011518147.1:c.348G>C	XP_011516449.1:p.Glu116Asp
XR_929703.1:n.1652G>C
NM_001353193.1:c.1476G>C	NP_001340122.1:p.Glu492Asp
NM_001353194.1:c.1248G>C	NP_001340123.1:p.Glu416Asp
NM_001353195.1:c.1059G>C	NP_001340124.1:p.Glu353Asp
NM_001353196.1:c.1320G>C	NP_001340125.1:p.Glu440Asp
NM_001353197.1:c.1314G>C	NP_001340126.1:p.Glu438Asp
NM_001353198.1:c.1314G>C	NP_001340127.1:p.Glu438Asp
NM_001353199.1:c.1125G>C	NP_001340128.1:p.Glu375Asp
NM_001353200.1:c.954G>C	NP_001340129.1:p.Glu318Asp
NR_148391.1:n.1460G>C
NR_148392.1:n.1678G>C
NR_148393.1:n.1599G>C
NR_148394.1:n.1353G>C
NR_148395.1:n.1751G>C
NR_148396.1:n.1385G>C
NR_148397.1:n.1510G>C
NR_148398.1:n.1465G>C
NR_148399.1:n.1991G>C
NR_148400.1:n.1590G>C
XM_005272162.3:c.279G>C	XP_005272219.1:p.Glu93Asp
XM_006716932.2:c.1125G>C	XP_006716995.1:p.Glu375Asp
XM_011518140.2:c.1329G>C	XP_011516442.1:p.Glu443Asp
XM_011518141.2:c.1263G>C	XP_011516443.1:p.Glu421Asp
XM_011518142.2:c.1167G>C	XP_011516444.1:p.Glu389Asp
XM_011518143.2:c.1161G>C	XP_011516445.1:p.Glu387Asp
XM_011518145.2:c.1020G>C	XP_011516447.1:p.Glu340Asp
XM_017014205.2:c.279G>C	XP_016869694.1:p.Glu93Asp
XM_024447380.1:c.279G>C	XP_024303148.1:p.Glu93Asp
XM_024447381.1:c.585G>C	XP_024303149.1:p.Glu195Asp
XM_024447382.1:c.279G>C	XP_024303150.1:p.Glu93Asp
XR_001746160.2:n.1580G>C
XR_001746162.2:n.1785G>C
XR_001746164.1:n.1502G>C
XR_001746166.2:n.1797G>C
NM_001077365.2:c.1410G>C MANE Select	NP_001070833.1:p.Glu470Asp
NM_001077366.2:c.1248G>C	NP_001070834.1:p.Glu416Asp
NM_001136113.2:c.1410G>C	NP_001129585.1:p.Glu470Asp
NM_001136114.2:c.1059G>C	NP_001129586.1:p.Glu353Asp
NM_001353193.2:c.1476G>C	NP_001340122.2:p.Glu492Asp
NM_001353194.2:c.1248G>C	NP_001340123.1:p.Glu416Asp
NM_001353195.2:c.1059G>C	NP_001340124.1:p.Glu353Asp
NM_001353196.2:c.1320G>C	NP_001340125.1:p.Glu440Asp
NM_001353197.2:c.1314G>C	NP_001340126.2:p.Glu438Asp
NM_001353198.2:c.1314G>C	NP_001340127.2:p.Glu438Asp
NM_001353199.2:c.1125G>C	NP_001340128.2:p.Glu375Asp
NM_001353200.2:c.954G>C	NP_001340129.1:p.Glu318Asp
NM_001374689.1:c.1398G>C	NP_001361618.1:p.Glu466Asp
NM_001374690.1:c.1365+344G>C	NP_001361619.1:n.1365+344G>C
NM_001374691.1:c.1059G>C	NP_001361620.1:p.Glu353Asp
NM_001374692.1:c.1059G>C	NP_001361621.1:p.Glu353Asp
NM_001374693.1:c.1059G>C	NP_001361622.1:p.Glu353Asp
NM_001374695.1:c.1020G>C	NP_001361624.1:p.Glu340Asp
NM_007171.4:c.1476G>C	NP_009102.4:p.Glu492Asp
NR_148391.2:n.1444G>C
NR_148392.2:n.1662G>C
NR_148393.2:n.1583G>C
NR_148394.2:n.1337G>C
NR_148395.2:n.1735G>C
NR_148396.2:n.1369G>C
NR_148397.2:n.1494G>C
NR_148398.2:n.1449G>C
NR_148399.2:n.1975G>C
NR_148400.2:n.1574G>C