Canonical Allele Identifier: CA375312012

Gene: POMT1

Linked Data

• dbSNP Id: rs1198675749
• gnomAD v2: 9-134394303-G-A
• gnomAD v4: 9-131518916-G-A
• MyVariant Identifiers: chr9:g.134394303G>A (hg19) ; chr9:g.131518916G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518916G>A , CM000671.2:g.131518916G>A	GRCh38
NC_000009.11:g.134394303G>A , CM000671.1:g.134394303G>A	GRCh37
NC_000009.10:g.133384124G>A	NCBI36
NG_008896.1:g.21015G>A
NG_008896.2:g.21015G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1283G>A	ENSP00000343034.7:p.Gly428Glu
ENST00000404875.7:n.1985G>A
ENST00000423007.6:c.1502G>A	ENSP00000404119.2:p.Gly501Glu
ENST00000677295.2:c.*1789G>A	ENSP00000504346.2:n.*1789G>A
ENST00000678264.2:c.*1628G>A	ENSP00000503157.2:n.*1628G>A
ENST00000682070.1:n.1910G>A
ENST00000682539.1:c.383G>A
ENST00000682813.1:n.1849G>A
ENST00000683392.1:n.4192G>A
ENST00000683712.1:n.1850G>A
ENST00000683900.1:n.3345G>A
ENST00000684062.1:n.2111G>A
ENST00000684579.1:n.3291G>A
ENST00000684679.1:n.672G>A
ENST00000341012.12:c.1283G>A	ENSP00000343034.7:p.Gly428Glu
ENST00000372220.5:c.314G>A	ENSP00000361294.5:p.Gly105Glu
ENST00000372228.9:c.1511G>A	ENSP00000361302.3:p.Gly504Glu
ENST00000402686.8:c.1445G>A MANE Select	ENSP00000385797.4:p.Gly482Glu
ENST00000676640.1:c.1445G>A	ENSP00000503281.1:p.Gly482Glu
ENST00000676803.1:c.620G>A	ENSP00000503093.1:p.Gly207Glu
ENST00000676835.1:c.*660G>A	ENSP00000502911.1:n.*660G>A
ENST00000677029.1:c.989G>A	ENSP00000502936.1:p.Gly330Glu
ENST00000677099.1:c.*1155G>A	ENSP00000504553.1:n.*1155G>A
ENST00000677216.1:c.1094G>A	ENSP00000503772.1:p.Gly365Glu
ENST00000677221.1:n.470G>A
ENST00000677295.1:c.*822G>A	ENSP00000504346.1:n.*822G>A
ENST00000677444.1:c.1390G>A
ENST00000677586.1:n.926G>A
ENST00000677626.1:c.1094G>A	ENSP00000503552.1:p.Gly365Glu
ENST00000677677.1:n.1405G>A
ENST00000677853.1:c.*453G>A	ENSP00000503488.1:n.*453G>A
ENST00000678202.1:n.604G>A
ENST00000678264.1:c.*822G>A	ENSP00000503157.1:n.*822G>A
ENST00000678303.1:c.1355G>A	ENSP00000503696.1:p.Gly452Glu
ENST00000678366.1:c.*1694G>A	ENSP00000504353.1:n.*1694G>A
ENST00000678546.1:c.*1390G>A	ENSP00000503062.1:n.*1390G>A
ENST00000678548.1:c.*1517G>A	ENSP00000503934.1:n.*1517G>A
ENST00000678626.1:n.1281G>A
ENST00000678733.1:c.526G>A
ENST00000678739.1:c.*1771G>A	ENSP00000503806.1:n.*1771G>A
ENST00000678833.1:c.*892G>A	ENSP00000503893.1:n.*892G>A
ENST00000679023.1:c.1283G>A	ENSP00000503718.1:p.Gly428Glu
ENST00000679076.1:c.1064G>A
ENST00000679111.1:c.*201G>A	ENSP00000504257.1:n.*201G>A
ENST00000679189.1:c.1094G>A	ENSP00000503356.1:p.Gly365Glu
ENST00000341012.11:c.1283G>A	ENSP00000343034.7:p.Gly428Glu
ENST00000372220.4:c.308G>A	ENSP00000361294.4:p.Gly103Glu
ENST00000372228.7:c.1511G>A	ENSP00000361302.3:p.Gly504Glu
ENST00000402686.7:c.1445G>A	ENSP00000385797.3:p.Gly482Glu
ENST00000404875.6:c.1094G>A	ENSP00000384531.2:p.Gly365Glu
ENST00000423007.5:c.1445G>A	ENSP00000404119.1:p.Gly482Glu
ENST00000467848.1:n.149G>A
ENST00000485278.5:n.2000G>A
NM_001077365.1:c.1445G>A	NP_001070833.1:p.Gly482Glu
NM_001077366.1:c.1283G>A	NP_001070834.1:p.Gly428Glu
NM_001136113.1:c.1445G>A	NP_001129585.1:p.Gly482Glu
NM_001136114.1:c.1094G>A	NP_001129586.1:p.Gly365Glu
NM_007171.3:c.1511G>A	NP_009102.3:p.Gly504Glu
XM_005272156.1:c.1511G>A	XP_005272213.1:p.Gly504Glu
XM_005272158.1:c.1349G>A	XP_005272215.1:p.Gly450Glu
XM_005272159.1:c.1160G>A	XP_005272216.1:p.Gly387Glu
XM_005272162.1:c.314G>A	XP_005272219.1:p.Gly105Glu
XM_006716932.1:c.1160G>A	XP_006716995.1:p.Gly387Glu
XM_011518140.1:c.1364G>A	XP_011516442.1:p.Gly455Glu
XM_011518141.1:c.1298G>A	XP_011516443.1:p.Gly433Glu
XM_011518142.1:c.1202G>A	XP_011516444.1:p.Gly401Glu
XM_011518143.1:c.1196G>A	XP_011516445.1:p.Gly399Glu
XM_011518145.1:c.1055G>A	XP_011516447.1:p.Gly352Glu
XM_011518147.1:c.383G>A	XP_011516449.1:p.Gly128Glu
XR_929703.1:n.1687G>A
NM_001353193.1:c.1511G>A	NP_001340122.1:p.Gly504Glu
NM_001353194.1:c.1283G>A	NP_001340123.1:p.Gly428Glu
NM_001353195.1:c.1094G>A	NP_001340124.1:p.Gly365Glu
NM_001353196.1:c.1355G>A	NP_001340125.1:p.Gly452Glu
NM_001353197.1:c.1349G>A	NP_001340126.1:p.Gly450Glu
NM_001353198.1:c.1349G>A	NP_001340127.1:p.Gly450Glu
NM_001353199.1:c.1160G>A	NP_001340128.1:p.Gly387Glu
NM_001353200.1:c.989G>A	NP_001340129.1:p.Gly330Glu
NR_148391.1:n.1495G>A
NR_148392.1:n.1713G>A
NR_148393.1:n.1634G>A
NR_148394.1:n.1388G>A
NR_148395.1:n.1786G>A
NR_148396.1:n.1420G>A
NR_148397.1:n.1545G>A
NR_148398.1:n.1500G>A
NR_148399.1:n.2026G>A
NR_148400.1:n.1625G>A
XM_005272162.3:c.314G>A	XP_005272219.1:p.Gly105Glu
XM_006716932.2:c.1160G>A	XP_006716995.1:p.Gly387Glu
XM_011518140.2:c.1364G>A	XP_011516442.1:p.Gly455Glu
XM_011518141.2:c.1298G>A	XP_011516443.1:p.Gly433Glu
XM_011518142.2:c.1202G>A	XP_011516444.1:p.Gly401Glu
XM_011518143.2:c.1196G>A	XP_011516445.1:p.Gly399Glu
XM_011518145.2:c.1055G>A	XP_011516447.1:p.Gly352Glu
XM_017014205.2:c.314G>A	XP_016869694.1:p.Gly105Glu
XM_024447380.1:c.314G>A	XP_024303148.1:p.Gly105Glu
XM_024447381.1:c.620G>A	XP_024303149.1:p.Gly207Glu
XM_024447382.1:c.314G>A	XP_024303150.1:p.Gly105Glu
XR_001746160.2:n.1615G>A
XR_001746162.2:n.1820G>A
XR_001746164.1:n.1537G>A
XR_001746166.2:n.1832G>A
NM_001077365.2:c.1445G>A MANE Select	NP_001070833.1:p.Gly482Glu
NM_001077366.2:c.1283G>A	NP_001070834.1:p.Gly428Glu
NM_001136113.2:c.1445G>A	NP_001129585.1:p.Gly482Glu
NM_001136114.2:c.1094G>A	NP_001129586.1:p.Gly365Glu
NM_001353193.2:c.1511G>A	NP_001340122.2:p.Gly504Glu
NM_001353194.2:c.1283G>A	NP_001340123.1:p.Gly428Glu
NM_001353195.2:c.1094G>A	NP_001340124.1:p.Gly365Glu
NM_001353196.2:c.1355G>A	NP_001340125.1:p.Gly452Glu
NM_001353197.2:c.1349G>A	NP_001340126.2:p.Gly450Glu
NM_001353198.2:c.1349G>A	NP_001340127.2:p.Gly450Glu
NM_001353199.2:c.1160G>A	NP_001340128.2:p.Gly387Glu
NM_001353200.2:c.989G>A	NP_001340129.1:p.Gly330Glu
NM_001374689.1:c.1433G>A	NP_001361618.1:p.Gly478Glu
NM_001374690.1:c.1365+379G>A	NP_001361619.1:n.1365+379G>A
NM_001374691.1:c.1094G>A	NP_001361620.1:p.Gly365Glu
NM_001374692.1:c.1094G>A	NP_001361621.1:p.Gly365Glu
NM_001374693.1:c.1094G>A	NP_001361622.1:p.Gly365Glu
NM_001374695.1:c.1055G>A	NP_001361624.1:p.Gly352Glu
NM_007171.4:c.1511G>A	NP_009102.4:p.Gly504Glu
NR_148391.2:n.1479G>A
NR_148392.2:n.1697G>A
NR_148393.2:n.1618G>A
NR_148394.2:n.1372G>A
NR_148395.2:n.1770G>A
NR_148396.2:n.1404G>A
NR_148397.2:n.1529G>A
NR_148398.2:n.1484G>A
NR_148399.2:n.2010G>A
NR_148400.2:n.1609G>A