Canonical Allele Identifier: CA375311805

Gene: POMT1

Linked Data

• ClinVar Variation Id: 999084
• ClinVar RCV Id: RCV001295034
• dbSNP Id: rs376126988
• gnomAD v4: 9-131518861-T-G
• MyVariant Identifiers: chr9:g.134394248T>G (hg19) ; chr9:g.131518861T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518861T>G , CM000671.2:g.131518861T>G	GRCh38
NC_000009.11:g.134394248T>G , CM000671.1:g.134394248T>G	GRCh37
NC_000009.10:g.133384069T>G	NCBI36
NG_008896.1:g.20960T>G
NG_008896.2:g.20960T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1228T>G	ENSP00000343034.7:p.Trp410Gly
ENST00000404875.7:n.1930T>G
ENST00000423007.6:c.1447T>G	ENSP00000404119.2:p.Trp483Gly
ENST00000677295.2:c.*1734T>G	ENSP00000504346.2:n.*1734T>G
ENST00000678264.2:c.*1573T>G	ENSP00000503157.2:n.*1573T>G
ENST00000682070.1:n.1855T>G
ENST00000682539.1:c.328T>G
ENST00000682813.1:n.1794T>G
ENST00000683392.1:n.4137T>G
ENST00000683712.1:n.1795T>G
ENST00000683900.1:n.3290T>G
ENST00000684062.1:n.2056T>G
ENST00000684579.1:n.3236T>G
ENST00000684679.1:n.617T>G
ENST00000341012.12:c.1228T>G	ENSP00000343034.7:p.Trp410Gly
ENST00000372220.5:c.259T>G	ENSP00000361294.5:p.Trp87Gly
ENST00000372228.9:c.1456T>G	ENSP00000361302.3:p.Trp486Gly
ENST00000402686.8:c.1390T>G MANE Select	ENSP00000385797.4:p.Trp464Gly
ENST00000676640.1:c.1390T>G	ENSP00000503281.1:p.Trp464Gly
ENST00000676803.1:c.565T>G	ENSP00000503093.1:p.Trp189Gly
ENST00000676835.1:c.*605T>G	ENSP00000502911.1:n.*605T>G
ENST00000677029.1:c.934T>G	ENSP00000502936.1:p.Trp312Gly
ENST00000677099.1:c.*1100T>G	ENSP00000504553.1:n.*1100T>G
ENST00000677216.1:c.1039T>G	ENSP00000503772.1:p.Trp347Gly
ENST00000677221.1:n.415T>G
ENST00000677295.1:c.*767T>G	ENSP00000504346.1:n.*767T>G
ENST00000677444.1:c.1335T>G
ENST00000677586.1:n.871T>G
ENST00000677626.1:c.1039T>G	ENSP00000503552.1:p.Trp347Gly
ENST00000677677.1:n.1350T>G
ENST00000677853.1:c.*398T>G	ENSP00000503488.1:n.*398T>G
ENST00000678202.1:n.549T>G
ENST00000678264.1:c.*767T>G	ENSP00000503157.1:n.*767T>G
ENST00000678303.1:c.1300T>G	ENSP00000503696.1:p.Trp434Gly
ENST00000678366.1:c.*1639T>G	ENSP00000504353.1:n.*1639T>G
ENST00000678546.1:c.*1335T>G	ENSP00000503062.1:n.*1335T>G
ENST00000678548.1:c.*1462T>G	ENSP00000503934.1:n.*1462T>G
ENST00000678626.1:n.1226T>G
ENST00000678733.1:c.471T>G
ENST00000678739.1:c.*1716T>G	ENSP00000503806.1:n.*1716T>G
ENST00000678833.1:c.*837T>G	ENSP00000503893.1:n.*837T>G
ENST00000679023.1:c.1228T>G	ENSP00000503718.1:p.Trp410Gly
ENST00000679076.1:c.1009T>G
ENST00000679111.1:c.*146T>G	ENSP00000504257.1:n.*146T>G
ENST00000679189.1:c.1039T>G	ENSP00000503356.1:p.Trp347Gly
ENST00000341012.11:c.1228T>G	ENSP00000343034.7:p.Trp410Gly
ENST00000372220.4:c.253T>G	ENSP00000361294.4:p.Trp85Gly
ENST00000372228.7:c.1456T>G	ENSP00000361302.3:p.Trp486Gly
ENST00000402686.7:c.1390T>G	ENSP00000385797.3:p.Trp464Gly
ENST00000404875.6:c.1039T>G	ENSP00000384531.2:p.Trp347Gly
ENST00000423007.5:c.1390T>G	ENSP00000404119.1:p.Trp464Gly
ENST00000467848.1:n.94T>G
ENST00000485278.5:n.1945T>G
NM_001077365.1:c.1390T>G	NP_001070833.1:p.Trp464Gly
NM_001077366.1:c.1228T>G	NP_001070834.1:p.Trp410Gly
NM_001136113.1:c.1390T>G	NP_001129585.1:p.Trp464Gly
NM_001136114.1:c.1039T>G	NP_001129586.1:p.Trp347Gly
NM_007171.3:c.1456T>G	NP_009102.3:p.Trp486Gly
XM_005272156.1:c.1456T>G	XP_005272213.1:p.Trp486Gly
XM_005272158.1:c.1294T>G	XP_005272215.1:p.Trp432Gly
XM_005272159.1:c.1105T>G	XP_005272216.1:p.Trp369Gly
XM_005272162.1:c.259T>G	XP_005272219.1:p.Trp87Gly
XM_006716932.1:c.1105T>G	XP_006716995.1:p.Trp369Gly
XM_011518140.1:c.1309T>G	XP_011516442.1:p.Trp437Gly
XM_011518141.1:c.1243T>G	XP_011516443.1:p.Trp415Gly
XM_011518142.1:c.1147T>G	XP_011516444.1:p.Trp383Gly
XM_011518143.1:c.1141T>G	XP_011516445.1:p.Trp381Gly
XM_011518144.1:c.*146T>G	XP_011516446.1:n.*146T>G
XM_011518145.1:c.1000T>G	XP_011516447.1:p.Trp334Gly
XM_011518146.1:c.*146T>G	XP_011516448.1:n.*146T>G
XM_011518147.1:c.328T>G	XP_011516449.1:p.Trp110Gly
XR_929703.1:n.1632T>G
NM_001353193.1:c.1456T>G	NP_001340122.1:p.Trp486Gly
NM_001353194.1:c.1228T>G	NP_001340123.1:p.Trp410Gly
NM_001353195.1:c.1039T>G	NP_001340124.1:p.Trp347Gly
NM_001353196.1:c.1300T>G	NP_001340125.1:p.Trp434Gly
NM_001353197.1:c.1294T>G	NP_001340126.1:p.Trp432Gly
NM_001353198.1:c.1294T>G	NP_001340127.1:p.Trp432Gly
NM_001353199.1:c.1105T>G	NP_001340128.1:p.Trp369Gly
NM_001353200.1:c.934T>G	NP_001340129.1:p.Trp312Gly
NR_148391.1:n.1440T>G
NR_148392.1:n.1658T>G
NR_148393.1:n.1579T>G
NR_148394.1:n.1333T>G
NR_148395.1:n.1731T>G
NR_148396.1:n.1365T>G
NR_148397.1:n.1490T>G
NR_148398.1:n.1445T>G
NR_148399.1:n.1971T>G
NR_148400.1:n.1570T>G
XM_005272162.3:c.259T>G	XP_005272219.1:p.Trp87Gly
XM_006716932.2:c.1105T>G	XP_006716995.1:p.Trp369Gly
XM_011518140.2:c.1309T>G	XP_011516442.1:p.Trp437Gly
XM_011518141.2:c.1243T>G	XP_011516443.1:p.Trp415Gly
XM_011518142.2:c.1147T>G	XP_011516444.1:p.Trp383Gly
XM_011518143.2:c.1141T>G	XP_011516445.1:p.Trp381Gly
XM_011518145.2:c.1000T>G	XP_011516447.1:p.Trp334Gly
XM_017014205.2:c.259T>G	XP_016869694.1:p.Trp87Gly
XM_024447380.1:c.259T>G	XP_024303148.1:p.Trp87Gly
XM_024447381.1:c.565T>G	XP_024303149.1:p.Trp189Gly
XM_024447382.1:c.259T>G	XP_024303150.1:p.Trp87Gly
XR_001746160.2:n.1560T>G
XR_001746162.2:n.1765T>G
XR_001746164.1:n.1482T>G
XR_001746166.2:n.1777T>G
NM_001077365.2:c.1390T>G MANE Select	NP_001070833.1:p.Trp464Gly
NM_001077366.2:c.1228T>G	NP_001070834.1:p.Trp410Gly
NM_001136113.2:c.1390T>G	NP_001129585.1:p.Trp464Gly
NM_001136114.2:c.1039T>G	NP_001129586.1:p.Trp347Gly
NM_001353193.2:c.1456T>G	NP_001340122.2:p.Trp486Gly
NM_001353194.2:c.1228T>G	NP_001340123.1:p.Trp410Gly
NM_001353195.2:c.1039T>G	NP_001340124.1:p.Trp347Gly
NM_001353196.2:c.1300T>G	NP_001340125.1:p.Trp434Gly
NM_001353197.2:c.1294T>G	NP_001340126.2:p.Trp432Gly
NM_001353198.2:c.1294T>G	NP_001340127.2:p.Trp432Gly
NM_001353199.2:c.1105T>G	NP_001340128.2:p.Trp369Gly
NM_001353200.2:c.934T>G	NP_001340129.1:p.Trp312Gly
NM_001374689.1:c.1378T>G	NP_001361618.1:p.Trp460Gly
NM_001374690.1:c.1365+324T>G	NP_001361619.1:n.1365+324T>G
NM_001374691.1:c.1039T>G	NP_001361620.1:p.Trp347Gly
NM_001374692.1:c.1039T>G	NP_001361621.1:p.Trp347Gly
NM_001374693.1:c.1039T>G	NP_001361622.1:p.Trp347Gly
NM_001374695.1:c.1000T>G	NP_001361624.1:p.Trp334Gly
NM_007171.4:c.1456T>G	NP_009102.4:p.Trp486Gly
NR_148391.2:n.1424T>G
NR_148392.2:n.1642T>G
NR_148393.2:n.1563T>G
NR_148394.2:n.1317T>G
NR_148395.2:n.1715T>G
NR_148396.2:n.1349T>G
NR_148397.2:n.1474T>G
NR_148398.2:n.1429T>G
NR_148399.2:n.1955T>G
NR_148400.2:n.1554T>G