Canonical Allele Identifier: CA16605633
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 386749
ClinVar RCV Id: RCV000434588
dbSNP Id: rs764970702

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.131518498G>A , CM000671.2:g.131518498G>A GRCh38
NC_000009.11:g.134393885G>A , CM000671.1:g.134393885G>A GRCh37
NC_000009.10:g.133383706G>A NCBI36
NG_008896.1:g.20597G>A
NG_008896.2:g.20597G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000341012.13:c.1164G>A ENSP00000343034.7:p.Glu388=
ENST00000404875.7:n.1866G>A
ENST00000423007.6:c.1383G>A ENSP00000404119.2:p.Glu461=
ENST00000677295.2:c.*1670G>A ENSP00000504346.2:n.*1670G>A
ENST00000678264.2:c.*1509G>A ENSP00000503157.2:n.*1509G>A
ENST00000682070.1:n.1791G>A
ENST00000682535.1:n.98G>A
ENST00000682539.1:c.264G>A
ENST00000682813.1:n.1591G>A
ENST00000683110.1:n.54G>A
ENST00000683392.1:n.4073G>A
ENST00000683712.1:n.1731G>A
ENST00000683900.1:n.3226G>A
ENST00000684062.1:n.1992G>A
ENST00000684579.1:n.3172G>A
ENST00000684679.1:n.553G>A
ENST00000341012.12:c.1164G>A ENSP00000343034.7:p.Glu388=
ENST00000372220.5:c.195G>A ENSP00000361294.5:p.Glu65=
ENST00000372228.9:c.1392G>A ENSP00000361302.3:p.Glu464=
ENST00000402686.8:c.1326G>A MANE Select ENSP00000385797.4:p.Glu442=
ENST00000676640.1:c.1326G>A ENSP00000503281.1:p.Glu442=
ENST00000676803.1:c.501G>A ENSP00000503093.1:p.Glu167=
ENST00000676835.1:c.*541G>A ENSP00000502911.1:n.*541G>A
ENST00000677029.1:c.870G>A ENSP00000502936.1:p.Glu290=
ENST00000677099.1:c.*1036G>A ENSP00000504553.1:n.*1036G>A
ENST00000677216.1:c.975G>A ENSP00000503772.1:p.Glu325=
ENST00000677221.1:n.351G>A
ENST00000677295.1:c.*703G>A ENSP00000504346.1:n.*703G>A
ENST00000677444.1:c.1132G>A
ENST00000677586.1:n.807G>A
ENST00000677626.1:c.975G>A ENSP00000503552.1:p.Glu325=
ENST00000677677.1:n.1286G>A
ENST00000677853.1:c.*334G>A ENSP00000503488.1:n.*334G>A
ENST00000677983.1:n.415G>A
ENST00000678202.1:n.346G>A
ENST00000678264.1:c.*703G>A ENSP00000503157.1:n.*703G>A
ENST00000678303.1:c.1236G>A ENSP00000503696.1:p.Glu412=
ENST00000678366.1:c.*1575G>A ENSP00000504353.1:n.*1575G>A
ENST00000678546.1:c.*1271G>A ENSP00000503062.1:n.*1271G>A
ENST00000678548.1:c.*1398G>A ENSP00000503934.1:n.*1398G>A
ENST00000678626.1:n.1023G>A
ENST00000678733.1:c.407G>A
ENST00000678739.1:c.*1652G>A ENSP00000503806.1:n.*1652G>A
ENST00000678795.1:n.413G>A
ENST00000678833.1:c.*773G>A ENSP00000503893.1:n.*773G>A
ENST00000678942.1:c.506G>A ENSP00000504690.1:n.506G>A
ENST00000679023.1:c.1164G>A ENSP00000503718.1:p.Glu388=
ENST00000679076.1:c.945G>A
ENST00000679111.1:c.1326G>A ENSP00000504257.1:p.Glu442=
ENST00000679189.1:c.975G>A ENSP00000503356.1:p.Glu325=
ENST00000341012.11:c.1164G>A ENSP00000343034.7:p.Glu388=
ENST00000372220.4:c.189G>A ENSP00000361294.4:p.Glu63=
ENST00000372228.7:c.1392G>A ENSP00000361302.3:p.Glu464=
ENST00000402686.7:c.1326G>A ENSP00000385797.3:p.Glu442=
ENST00000404875.6:c.975G>A ENSP00000384531.2:p.Glu325=
ENST00000423007.5:c.1326G>A ENSP00000404119.1:p.Glu442=
ENST00000485278.5:n.1881G>A
NM_001077365.1:c.1326G>A NP_001070833.1:p.Glu442=
NM_001077366.1:c.1164G>A NP_001070834.1:p.Glu388=
NM_001136113.1:c.1326G>A NP_001129585.1:p.Glu442=
NM_001136114.1:c.975G>A NP_001129586.1:p.Glu325=
NM_007171.3:c.1392G>A NP_009102.3:p.Glu464=
XM_005272156.1:c.1392G>A XP_005272213.1:p.Glu464=
XM_005272158.1:c.1230G>A XP_005272215.1:p.Glu410=
XM_005272159.1:c.1041G>A XP_005272216.1:p.Glu347=
XM_005272162.1:c.195G>A XP_005272219.1:p.Glu65=
XM_006716932.1:c.1041G>A XP_006716995.1:p.Glu347=
XM_011518140.1:c.1245G>A XP_011516442.1:p.Glu415=
XM_011518141.1:c.1179G>A XP_011516443.1:p.Glu393=
XM_011518142.1:c.1083G>A XP_011516444.1:p.Glu361=
XM_011518143.1:c.1077G>A XP_011516445.1:p.Glu359=
XM_011518144.1:c.1392G>A XP_011516446.1:p.Glu464=
XM_011518145.1:c.936G>A XP_011516447.1:p.Glu312=
XM_011518146.1:c.1077G>A XP_011516448.1:p.Glu359=
XM_011518147.1:c.264G>A XP_011516449.1:p.Glu88=
XR_929703.1:n.1568G>A
NM_001353193.1:c.1392G>A NP_001340122.1:p.Glu464=
NM_001353194.1:c.1164G>A NP_001340123.1:p.Glu388=
NM_001353195.1:c.975G>A NP_001340124.1:p.Glu325=
NM_001353196.1:c.1236G>A NP_001340125.1:p.Glu412=
NM_001353197.1:c.1230G>A NP_001340126.1:p.Glu410=
NM_001353198.1:c.1230G>A NP_001340127.1:p.Glu410=
NM_001353199.1:c.1041G>A NP_001340128.1:p.Glu347=
NM_001353200.1:c.870G>A NP_001340129.1:p.Glu290=
NR_148391.1:n.1376G>A
NR_148392.1:n.1594G>A
NR_148393.1:n.1376G>A
NR_148394.1:n.1269G>A
NR_148395.1:n.1528G>A
NR_148396.1:n.1162G>A
NR_148397.1:n.1426G>A
NR_148398.1:n.1381G>A
NR_148399.1:n.1768G>A
NR_148400.1:n.1367G>A
XM_005272162.3:c.195G>A XP_005272219.1:p.Glu65=
XM_006716932.2:c.1041G>A XP_006716995.1:p.Glu347=
XM_011518140.2:c.1245G>A XP_011516442.1:p.Glu415=
XM_011518141.2:c.1179G>A XP_011516443.1:p.Glu393=
XM_011518142.2:c.1083G>A XP_011516444.1:p.Glu361=
XM_011518143.2:c.1077G>A XP_011516445.1:p.Glu359=
XM_011518145.2:c.936G>A XP_011516447.1:p.Glu312=
XM_017014205.2:c.195G>A XP_016869694.1:p.Glu65=
XM_024447380.1:c.195G>A XP_024303148.1:p.Glu65=
XM_024447381.1:c.501G>A XP_024303149.1:p.Glu167=
XM_024447382.1:c.195G>A XP_024303150.1:p.Glu65=
XR_001746160.2:n.1496G>A
XR_001746162.2:n.1562G>A
XR_001746164.1:n.1279G>A
XR_001746166.2:n.1713G>A
NM_001077365.2:c.1326G>A MANE Select NP_001070833.1:p.Glu442=
NM_001077366.2:c.1164G>A NP_001070834.1:p.Glu388=
NM_001136113.2:c.1326G>A NP_001129585.1:p.Glu442=
NM_001136114.2:c.975G>A NP_001129586.1:p.Glu325=
NM_001353193.2:c.1392G>A NP_001340122.2:p.Glu464=
NM_001353194.2:c.1164G>A NP_001340123.1:p.Glu388=
NM_001353195.2:c.975G>A NP_001340124.1:p.Glu325=
NM_001353196.2:c.1236G>A NP_001340125.1:p.Glu412=
NM_001353197.2:c.1230G>A NP_001340126.2:p.Glu410=
NM_001353198.2:c.1230G>A NP_001340127.2:p.Glu410=
NM_001353199.2:c.1041G>A NP_001340128.2:p.Glu347=
NM_001353200.2:c.870G>A NP_001340129.1:p.Glu290=
NM_001374689.1:c.1314G>A NP_001361618.1:p.Glu438=
NM_001374690.1:c.1326G>A NP_001361619.1:p.Glu442=
NM_001374691.1:c.975G>A NP_001361620.1:p.Glu325=
NM_001374692.1:c.975G>A NP_001361621.1:p.Glu325=
NM_001374693.1:c.975G>A NP_001361622.1:p.Glu325=
NM_001374695.1:c.936G>A NP_001361624.1:p.Glu312=
NM_007171.4:c.1392G>A NP_009102.4:p.Glu464=
NR_148391.2:n.1360G>A
NR_148392.2:n.1578G>A
NR_148393.2:n.1360G>A
NR_148394.2:n.1253G>A
NR_148395.2:n.1512G>A
NR_148396.2:n.1146G>A
NR_148397.2:n.1410G>A
NR_148398.2:n.1365G>A
NR_148399.2:n.1752G>A
NR_148400.2:n.1351G>A