Canonical Allele Identifier: CA375310095

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134390878T>G (hg19) ; chr9:g.131515491T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131515491T>G , CM000671.2:g.131515491T>G	GRCh38
NC_000009.11:g.134390878T>G , CM000671.1:g.134390878T>G	GRCh37
NC_000009.10:g.133380699T>G	NCBI36
NG_008896.1:g.17590T>G
NG_008896.2:g.17590T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1079T>G	ENSP00000343034.7:p.Ile360Ser
ENST00000404875.7:n.1781T>G
ENST00000423007.6:c.1298T>G	ENSP00000404119.2:p.Ile433Ser
ENST00000677295.2:c.*1585T>G	ENSP00000504346.2:n.*1585T>G
ENST00000678264.2:c.*1424T>G	ENSP00000503157.2:n.*1424T>G
ENST00000682070.1:n.1706T>G
ENST00000682539.1:c.66T>G
ENST00000682813.1:n.1506T>G
ENST00000683392.1:n.3988T>G
ENST00000683712.1:n.1646T>G
ENST00000683900.1:n.3141T>G
ENST00000684062.1:n.1907T>G
ENST00000684579.1:n.3087T>G
ENST00000341012.12:c.1079T>G	ENSP00000343034.7:p.Ile360Ser
ENST00000372220.5:c.110T>G	ENSP00000361294.5:p.Ile37Ser
ENST00000372228.9:c.1307T>G	ENSP00000361302.3:p.Ile436Ser
ENST00000402686.8:c.1241T>G MANE Select	ENSP00000385797.4:p.Ile414Ser
ENST00000676640.1:c.1241T>G	ENSP00000503281.1:p.Ile414Ser
ENST00000676803.1:c.416T>G	ENSP00000503093.1:p.Ile139Ser
ENST00000676835.1:c.*456T>G	ENSP00000502911.1:n.*456T>G
ENST00000677029.1:c.785T>G	ENSP00000502936.1:p.Ile262Ser
ENST00000677099.1:c.*951T>G	ENSP00000504553.1:n.*951T>G
ENST00000677216.1:c.890T>G	ENSP00000503772.1:p.Ile297Ser
ENST00000677295.1:c.*618T>G	ENSP00000504346.1:n.*618T>G
ENST00000677444.1:c.1047T>G
ENST00000677586.1:n.722T>G
ENST00000677626.1:c.890T>G	ENSP00000503552.1:p.Ile297Ser
ENST00000677677.1:n.1201T>G
ENST00000677853.1:c.*249T>G	ENSP00000503488.1:n.*249T>G
ENST00000677944.1:c.503T>G
ENST00000678264.1:c.*618T>G	ENSP00000503157.1:n.*618T>G
ENST00000678303.1:c.1151T>G	ENSP00000503696.1:p.Ile384Ser
ENST00000678366.1:c.*1490T>G	ENSP00000504353.1:n.*1490T>G
ENST00000678546.1:c.*1186T>G	ENSP00000503062.1:n.*1186T>G
ENST00000678548.1:c.*1313T>G	ENSP00000503934.1:n.*1313T>G
ENST00000678626.1:n.938T>G
ENST00000678733.1:c.322T>G
ENST00000678739.1:c.*1567T>G	ENSP00000503806.1:n.*1567T>G
ENST00000678795.1:n.328T>G
ENST00000678833.1:c.*688T>G	ENSP00000503893.1:n.*688T>G
ENST00000678942.1:c.421T>G	ENSP00000504690.1:n.421T>G
ENST00000679023.1:c.1079T>G	ENSP00000503718.1:p.Ile360Ser
ENST00000679076.1:c.860T>G
ENST00000679111.1:c.1241T>G	ENSP00000504257.1:p.Ile414Ser
ENST00000679189.1:c.890T>G	ENSP00000503356.1:p.Ile297Ser
ENST00000341012.11:c.1079T>G	ENSP00000343034.7:p.Ile360Ser
ENST00000372228.7:c.1307T>G	ENSP00000361302.3:p.Ile436Ser
ENST00000402686.7:c.1241T>G	ENSP00000385797.3:p.Ile414Ser
ENST00000404875.6:c.890T>G	ENSP00000384531.2:p.Ile297Ser
ENST00000423007.5:c.1241T>G	ENSP00000404119.1:p.Ile414Ser
ENST00000485278.5:n.1796T>G
NM_001077365.1:c.1241T>G	NP_001070833.1:p.Ile414Ser
NM_001077366.1:c.1079T>G	NP_001070834.1:p.Ile360Ser
NM_001136113.1:c.1241T>G	NP_001129585.1:p.Ile414Ser
NM_001136114.1:c.890T>G	NP_001129586.1:p.Ile297Ser
NM_007171.3:c.1307T>G	NP_009102.3:p.Ile436Ser
XM_005272156.1:c.1307T>G	XP_005272213.1:p.Ile436Ser
XM_005272158.1:c.1145T>G	XP_005272215.1:p.Ile382Ser
XM_005272159.1:c.956T>G	XP_005272216.1:p.Ile319Ser
XM_005272162.1:c.110T>G	XP_005272219.1:p.Ile37Ser
XM_006716932.1:c.956T>G	XP_006716995.1:p.Ile319Ser
XM_011518140.1:c.1160T>G	XP_011516442.1:p.Ile387Ser
XM_011518141.1:c.1094T>G	XP_011516443.1:p.Ile365Ser
XM_011518142.1:c.998T>G	XP_011516444.1:p.Ile333Ser
XM_011518143.1:c.992T>G	XP_011516445.1:p.Ile331Ser
XM_011518144.1:c.1307T>G	XP_011516446.1:p.Ile436Ser
XM_011518145.1:c.851T>G	XP_011516447.1:p.Ile284Ser
XM_011518146.1:c.992T>G	XP_011516448.1:p.Ile331Ser
XR_929703.1:n.1483T>G
NM_001353193.1:c.1307T>G	NP_001340122.1:p.Ile436Ser
NM_001353194.1:c.1079T>G	NP_001340123.1:p.Ile360Ser
NM_001353195.1:c.890T>G	NP_001340124.1:p.Ile297Ser
NM_001353196.1:c.1151T>G	NP_001340125.1:p.Ile384Ser
NM_001353197.1:c.1145T>G	NP_001340126.1:p.Ile382Ser
NM_001353198.1:c.1145T>G	NP_001340127.1:p.Ile382Ser
NM_001353199.1:c.956T>G	NP_001340128.1:p.Ile319Ser
NM_001353200.1:c.785T>G	NP_001340129.1:p.Ile262Ser
NR_148391.1:n.1291T>G
NR_148392.1:n.1509T>G
NR_148393.1:n.1291T>G
NR_148394.1:n.1184T>G
NR_148395.1:n.1443T>G
NR_148396.1:n.1077T>G
NR_148397.1:n.1341T>G
NR_148398.1:n.1296T>G
NR_148399.1:n.1683T>G
NR_148400.1:n.1282T>G
XM_005272162.3:c.110T>G	XP_005272219.1:p.Ile37Ser
XM_006716932.2:c.956T>G	XP_006716995.1:p.Ile319Ser
XM_011518140.2:c.1160T>G	XP_011516442.1:p.Ile387Ser
XM_011518141.2:c.1094T>G	XP_011516443.1:p.Ile365Ser
XM_011518142.2:c.998T>G	XP_011516444.1:p.Ile333Ser
XM_011518143.2:c.992T>G	XP_011516445.1:p.Ile331Ser
XM_011518145.2:c.851T>G	XP_011516447.1:p.Ile284Ser
XM_017014205.2:c.110T>G	XP_016869694.1:p.Ile37Ser
XM_024447380.1:c.110T>G	XP_024303148.1:p.Ile37Ser
XM_024447381.1:c.416T>G	XP_024303149.1:p.Ile139Ser
XM_024447382.1:c.110T>G	XP_024303150.1:p.Ile37Ser
XR_001746160.2:n.1411T>G
XR_001746162.2:n.1477T>G
XR_001746164.1:n.1194T>G
XR_001746166.2:n.1628T>G
NM_001077365.2:c.1241T>G MANE Select	NP_001070833.1:p.Ile414Ser
NM_001077366.2:c.1079T>G	NP_001070834.1:p.Ile360Ser
NM_001136113.2:c.1241T>G	NP_001129585.1:p.Ile414Ser
NM_001136114.2:c.890T>G	NP_001129586.1:p.Ile297Ser
NM_001353193.2:c.1307T>G	NP_001340122.2:p.Ile436Ser
NM_001353194.2:c.1079T>G	NP_001340123.1:p.Ile360Ser
NM_001353195.2:c.890T>G	NP_001340124.1:p.Ile297Ser
NM_001353196.2:c.1151T>G	NP_001340125.1:p.Ile384Ser
NM_001353197.2:c.1145T>G	NP_001340126.2:p.Ile382Ser
NM_001353198.2:c.1145T>G	NP_001340127.2:p.Ile382Ser
NM_001353199.2:c.956T>G	NP_001340128.2:p.Ile319Ser
NM_001353200.2:c.785T>G	NP_001340129.1:p.Ile262Ser
NM_001374689.1:c.1229T>G	NP_001361618.1:p.Ile410Ser
NM_001374690.1:c.1241T>G	NP_001361619.1:p.Ile414Ser
NM_001374691.1:c.890T>G	NP_001361620.1:p.Ile297Ser
NM_001374692.1:c.890T>G	NP_001361621.1:p.Ile297Ser
NM_001374693.1:c.890T>G	NP_001361622.1:p.Ile297Ser
NM_001374695.1:c.851T>G	NP_001361624.1:p.Ile284Ser
NM_007171.4:c.1307T>G	NP_009102.4:p.Ile436Ser
NR_148391.2:n.1275T>G
NR_148392.2:n.1493T>G
NR_148393.2:n.1275T>G
NR_148394.2:n.1168T>G
NR_148395.2:n.1427T>G
NR_148396.2:n.1061T>G
NR_148397.2:n.1325T>G
NR_148398.2:n.1280T>G
NR_148399.2:n.1667T>G
NR_148400.2:n.1266T>G