Canonical Allele Identifier: CA375311082

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134393837T>G (hg19) ; chr9:g.131518450T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518450T>G , CM000671.2:g.131518450T>G	GRCh38
NC_000009.11:g.134393837T>G , CM000671.1:g.134393837T>G	GRCh37
NC_000009.10:g.133383658T>G	NCBI36
NG_008896.1:g.20549T>G
NG_008896.2:g.20549T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1116T>G	ENSP00000343034.7:p.Ile372Met
ENST00000404875.7:n.1818T>G
ENST00000423007.6:c.1335T>G	ENSP00000404119.2:p.Ile445Met
ENST00000677295.2:c.*1622T>G	ENSP00000504346.2:n.*1622T>G
ENST00000678264.2:c.*1461T>G	ENSP00000503157.2:n.*1461T>G
ENST00000682070.1:n.1743T>G
ENST00000682535.1:n.50T>G
ENST00000682539.1:c.216T>G
ENST00000682813.1:n.1543T>G
ENST00000683110.1:n.6T>G
ENST00000683392.1:n.4025T>G
ENST00000683712.1:n.1683T>G
ENST00000683900.1:n.3178T>G
ENST00000684062.1:n.1944T>G
ENST00000684579.1:n.3124T>G
ENST00000684679.1:n.505T>G
ENST00000341012.12:c.1116T>G	ENSP00000343034.7:p.Ile372Met
ENST00000372220.5:c.147T>G	ENSP00000361294.5:p.Ile49Met
ENST00000372228.9:c.1344T>G	ENSP00000361302.3:p.Ile448Met
ENST00000402686.8:c.1278T>G MANE Select	ENSP00000385797.4:p.Ile426Met
ENST00000676640.1:c.1278T>G	ENSP00000503281.1:p.Ile426Met
ENST00000676803.1:c.453T>G	ENSP00000503093.1:p.Ile151Met
ENST00000676835.1:c.*493T>G	ENSP00000502911.1:n.*493T>G
ENST00000677029.1:c.822T>G	ENSP00000502936.1:p.Ile274Met
ENST00000677099.1:c.*988T>G	ENSP00000504553.1:n.*988T>G
ENST00000677216.1:c.927T>G	ENSP00000503772.1:p.Ile309Met
ENST00000677221.1:n.303T>G
ENST00000677295.1:c.*655T>G	ENSP00000504346.1:n.*655T>G
ENST00000677444.1:c.1084T>G
ENST00000677586.1:n.759T>G
ENST00000677626.1:c.927T>G	ENSP00000503552.1:p.Ile309Met
ENST00000677677.1:n.1238T>G
ENST00000677853.1:c.*286T>G	ENSP00000503488.1:n.*286T>G
ENST00000677944.1:c.540T>G
ENST00000677983.1:n.367T>G
ENST00000678202.1:n.298T>G
ENST00000678264.1:c.*655T>G	ENSP00000503157.1:n.*655T>G
ENST00000678303.1:c.1188T>G	ENSP00000503696.1:p.Ile396Met
ENST00000678366.1:c.*1527T>G	ENSP00000504353.1:n.*1527T>G
ENST00000678546.1:c.*1223T>G	ENSP00000503062.1:n.*1223T>G
ENST00000678548.1:c.*1350T>G	ENSP00000503934.1:n.*1350T>G
ENST00000678626.1:n.975T>G
ENST00000678733.1:c.359T>G
ENST00000678739.1:c.*1604T>G	ENSP00000503806.1:n.*1604T>G
ENST00000678795.1:n.365T>G
ENST00000678833.1:c.*725T>G	ENSP00000503893.1:n.*725T>G
ENST00000678942.1:c.458T>G	ENSP00000504690.1:n.458T>G
ENST00000679023.1:c.1116T>G	ENSP00000503718.1:p.Ile372Met
ENST00000679076.1:c.897T>G
ENST00000679111.1:c.1278T>G	ENSP00000504257.1:p.Ile426Met
ENST00000679189.1:c.927T>G	ENSP00000503356.1:p.Ile309Met
ENST00000341012.11:c.1116T>G	ENSP00000343034.7:p.Ile372Met
ENST00000372220.4:c.141T>G	ENSP00000361294.4:p.Ile47Met
ENST00000372228.7:c.1344T>G	ENSP00000361302.3:p.Ile448Met
ENST00000402686.7:c.1278T>G	ENSP00000385797.3:p.Ile426Met
ENST00000404875.6:c.927T>G	ENSP00000384531.2:p.Ile309Met
ENST00000423007.5:c.1278T>G	ENSP00000404119.1:p.Ile426Met
ENST00000485278.5:n.1833T>G
NM_001077365.1:c.1278T>G	NP_001070833.1:p.Ile426Met
NM_001077366.1:c.1116T>G	NP_001070834.1:p.Ile372Met
NM_001136113.1:c.1278T>G	NP_001129585.1:p.Ile426Met
NM_001136114.1:c.927T>G	NP_001129586.1:p.Ile309Met
NM_007171.3:c.1344T>G	NP_009102.3:p.Ile448Met
XM_005272156.1:c.1344T>G	XP_005272213.1:p.Ile448Met
XM_005272158.1:c.1182T>G	XP_005272215.1:p.Ile394Met
XM_005272159.1:c.993T>G	XP_005272216.1:p.Ile331Met
XM_005272162.1:c.147T>G	XP_005272219.1:p.Ile49Met
XM_006716932.1:c.993T>G	XP_006716995.1:p.Ile331Met
XM_011518140.1:c.1197T>G	XP_011516442.1:p.Ile399Met
XM_011518141.1:c.1131T>G	XP_011516443.1:p.Ile377Met
XM_011518142.1:c.1035T>G	XP_011516444.1:p.Ile345Met
XM_011518143.1:c.1029T>G	XP_011516445.1:p.Ile343Met
XM_011518144.1:c.1344T>G	XP_011516446.1:p.Ile448Met
XM_011518145.1:c.888T>G	XP_011516447.1:p.Ile296Met
XM_011518146.1:c.1029T>G	XP_011516448.1:p.Ile343Met
XM_011518147.1:c.216T>G	XP_011516449.1:p.Ile72Met
XR_929703.1:n.1520T>G
NM_001353193.1:c.1344T>G	NP_001340122.1:p.Ile448Met
NM_001353194.1:c.1116T>G	NP_001340123.1:p.Ile372Met
NM_001353195.1:c.927T>G	NP_001340124.1:p.Ile309Met
NM_001353196.1:c.1188T>G	NP_001340125.1:p.Ile396Met
NM_001353197.1:c.1182T>G	NP_001340126.1:p.Ile394Met
NM_001353198.1:c.1182T>G	NP_001340127.1:p.Ile394Met
NM_001353199.1:c.993T>G	NP_001340128.1:p.Ile331Met
NM_001353200.1:c.822T>G	NP_001340129.1:p.Ile274Met
NR_148391.1:n.1328T>G
NR_148392.1:n.1546T>G
NR_148393.1:n.1328T>G
NR_148394.1:n.1221T>G
NR_148395.1:n.1480T>G
NR_148396.1:n.1114T>G
NR_148397.1:n.1378T>G
NR_148398.1:n.1333T>G
NR_148399.1:n.1720T>G
NR_148400.1:n.1319T>G
XM_005272162.3:c.147T>G	XP_005272219.1:p.Ile49Met
XM_006716932.2:c.993T>G	XP_006716995.1:p.Ile331Met
XM_011518140.2:c.1197T>G	XP_011516442.1:p.Ile399Met
XM_011518141.2:c.1131T>G	XP_011516443.1:p.Ile377Met
XM_011518142.2:c.1035T>G	XP_011516444.1:p.Ile345Met
XM_011518143.2:c.1029T>G	XP_011516445.1:p.Ile343Met
XM_011518145.2:c.888T>G	XP_011516447.1:p.Ile296Met
XM_017014205.2:c.147T>G	XP_016869694.1:p.Ile49Met
XM_024447380.1:c.147T>G	XP_024303148.1:p.Ile49Met
XM_024447381.1:c.453T>G	XP_024303149.1:p.Ile151Met
XM_024447382.1:c.147T>G	XP_024303150.1:p.Ile49Met
XR_001746160.2:n.1448T>G
XR_001746162.2:n.1514T>G
XR_001746164.1:n.1231T>G
XR_001746166.2:n.1665T>G
NM_001077365.2:c.1278T>G MANE Select	NP_001070833.1:p.Ile426Met
NM_001077366.2:c.1116T>G	NP_001070834.1:p.Ile372Met
NM_001136113.2:c.1278T>G	NP_001129585.1:p.Ile426Met
NM_001136114.2:c.927T>G	NP_001129586.1:p.Ile309Met
NM_001353193.2:c.1344T>G	NP_001340122.2:p.Ile448Met
NM_001353194.2:c.1116T>G	NP_001340123.1:p.Ile372Met
NM_001353195.2:c.927T>G	NP_001340124.1:p.Ile309Met
NM_001353196.2:c.1188T>G	NP_001340125.1:p.Ile396Met
NM_001353197.2:c.1182T>G	NP_001340126.2:p.Ile394Met
NM_001353198.2:c.1182T>G	NP_001340127.2:p.Ile394Met
NM_001353199.2:c.993T>G	NP_001340128.2:p.Ile331Met
NM_001353200.2:c.822T>G	NP_001340129.1:p.Ile274Met
NM_001374689.1:c.1266T>G	NP_001361618.1:p.Ile422Met
NM_001374690.1:c.1278T>G	NP_001361619.1:p.Ile426Met
NM_001374691.1:c.927T>G	NP_001361620.1:p.Ile309Met
NM_001374692.1:c.927T>G	NP_001361621.1:p.Ile309Met
NM_001374693.1:c.927T>G	NP_001361622.1:p.Ile309Met
NM_001374695.1:c.888T>G	NP_001361624.1:p.Ile296Met
NM_007171.4:c.1344T>G	NP_009102.4:p.Ile448Met
NR_148391.2:n.1312T>G
NR_148392.2:n.1530T>G
NR_148393.2:n.1312T>G
NR_148394.2:n.1205T>G
NR_148395.2:n.1464T>G
NR_148396.2:n.1098T>G
NR_148397.2:n.1362T>G
NR_148398.2:n.1317T>G
NR_148399.2:n.1704T>G
NR_148400.2:n.1303T>G