Canonical Allele Identifier: CA467423524

Gene: POMT1

Linked Data

• gnomAD v4: 9-131518917-G-A
• MyVariant Identifiers: chr9:g.134394304G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518917G>A , CM000671.2:g.131518917G>A	GRCh38
NC_000009.11:g.134394304G>A , CM000671.1:g.134394304G>A	GRCh37
NC_000009.10:g.133384125G>A	NCBI36
NG_008896.1:g.21016G>A
NG_008896.2:g.21016G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1284G>A	ENSP00000343034.7:p.Gly428=
ENST00000404875.7:n.1986G>A
ENST00000423007.6:c.1503G>A	ENSP00000404119.2:p.Gly501=
ENST00000677295.2:c.*1790G>A	ENSP00000504346.2:n.*1790G>A
ENST00000678264.2:c.*1629G>A	ENSP00000503157.2:n.*1629G>A
ENST00000682070.1:n.1911G>A
ENST00000682539.1:c.384G>A
ENST00000682813.1:n.1850G>A
ENST00000683392.1:n.4193G>A
ENST00000683712.1:n.1851G>A
ENST00000683900.1:n.3346G>A
ENST00000684062.1:n.2112G>A
ENST00000684579.1:n.3292G>A
ENST00000684679.1:n.673G>A
ENST00000341012.12:c.1284G>A	ENSP00000343034.7:p.Gly428=
ENST00000372220.5:c.315G>A	ENSP00000361294.5:p.Gly105=
ENST00000372228.9:c.1512G>A	ENSP00000361302.3:p.Gly504=
ENST00000402686.8:c.1446G>A MANE Select	ENSP00000385797.4:p.Gly482=
ENST00000676640.1:c.1446G>A	ENSP00000503281.1:p.Gly482=
ENST00000676803.1:c.621G>A	ENSP00000503093.1:p.Gly207=
ENST00000676835.1:c.*661G>A	ENSP00000502911.1:n.*661G>A
ENST00000677029.1:c.990G>A	ENSP00000502936.1:p.Gly330=
ENST00000677099.1:c.*1156G>A	ENSP00000504553.1:n.*1156G>A
ENST00000677216.1:c.1095G>A	ENSP00000503772.1:p.Gly365=
ENST00000677221.1:n.471G>A
ENST00000677295.1:c.*823G>A	ENSP00000504346.1:n.*823G>A
ENST00000677444.1:c.1391G>A
ENST00000677586.1:n.927G>A
ENST00000677626.1:c.1095G>A	ENSP00000503552.1:p.Gly365=
ENST00000677677.1:n.1406G>A
ENST00000677853.1:c.*454G>A	ENSP00000503488.1:n.*454G>A
ENST00000678202.1:n.605G>A
ENST00000678264.1:c.*823G>A	ENSP00000503157.1:n.*823G>A
ENST00000678303.1:c.1356G>A	ENSP00000503696.1:p.Gly452=
ENST00000678366.1:c.*1695G>A	ENSP00000504353.1:n.*1695G>A
ENST00000678546.1:c.*1391G>A	ENSP00000503062.1:n.*1391G>A
ENST00000678548.1:c.*1518G>A	ENSP00000503934.1:n.*1518G>A
ENST00000678626.1:n.1282G>A
ENST00000678733.1:c.527G>A
ENST00000678739.1:c.*1772G>A	ENSP00000503806.1:n.*1772G>A
ENST00000678833.1:c.*893G>A	ENSP00000503893.1:n.*893G>A
ENST00000679023.1:c.1284G>A	ENSP00000503718.1:p.Gly428=
ENST00000679076.1:c.1065G>A
ENST00000679111.1:c.*202G>A	ENSP00000504257.1:n.*202G>A
ENST00000679189.1:c.1095G>A	ENSP00000503356.1:p.Gly365=
ENST00000341012.11:c.1284G>A	ENSP00000343034.7:p.Gly428=
ENST00000372220.4:c.309G>A	ENSP00000361294.4:p.Gly103=
ENST00000372228.7:c.1512G>A	ENSP00000361302.3:p.Gly504=
ENST00000402686.7:c.1446G>A	ENSP00000385797.3:p.Gly482=
ENST00000404875.6:c.1095G>A	ENSP00000384531.2:p.Gly365=
ENST00000423007.5:c.1446G>A	ENSP00000404119.1:p.Gly482=
ENST00000467848.1:n.150G>A
ENST00000485278.5:n.2001G>A
NM_001077365.1:c.1446G>A	NP_001070833.1:p.Gly482=
NM_001077366.1:c.1284G>A	NP_001070834.1:p.Gly428=
NM_001136113.1:c.1446G>A	NP_001129585.1:p.Gly482=
NM_001136114.1:c.1095G>A	NP_001129586.1:p.Gly365=
NM_007171.3:c.1512G>A	NP_009102.3:p.Gly504=
XM_005272156.1:c.1512G>A	XP_005272213.1:p.Gly504=
XM_005272158.1:c.1350G>A	XP_005272215.1:p.Gly450=
XM_005272159.1:c.1161G>A	XP_005272216.1:p.Gly387=
XM_005272162.1:c.315G>A	XP_005272219.1:p.Gly105=
XM_006716932.1:c.1161G>A	XP_006716995.1:p.Gly387=
XM_011518140.1:c.1365G>A	XP_011516442.1:p.Gly455=
XM_011518141.1:c.1299G>A	XP_011516443.1:p.Gly433=
XM_011518142.1:c.1203G>A	XP_011516444.1:p.Gly401=
XM_011518143.1:c.1197G>A	XP_011516445.1:p.Gly399=
XM_011518145.1:c.1056G>A	XP_011516447.1:p.Gly352=
XM_011518147.1:c.384G>A	XP_011516449.1:p.Gly128=
XR_929703.1:n.1688G>A
NM_001353193.1:c.1512G>A	NP_001340122.1:p.Gly504=
NM_001353194.1:c.1284G>A	NP_001340123.1:p.Gly428=
NM_001353195.1:c.1095G>A	NP_001340124.1:p.Gly365=
NM_001353196.1:c.1356G>A	NP_001340125.1:p.Gly452=
NM_001353197.1:c.1350G>A	NP_001340126.1:p.Gly450=
NM_001353198.1:c.1350G>A	NP_001340127.1:p.Gly450=
NM_001353199.1:c.1161G>A	NP_001340128.1:p.Gly387=
NM_001353200.1:c.990G>A	NP_001340129.1:p.Gly330=
NR_148391.1:n.1496G>A
NR_148392.1:n.1714G>A
NR_148393.1:n.1635G>A
NR_148394.1:n.1389G>A
NR_148395.1:n.1787G>A
NR_148396.1:n.1421G>A
NR_148397.1:n.1546G>A
NR_148398.1:n.1501G>A
NR_148399.1:n.2027G>A
NR_148400.1:n.1626G>A
XM_005272162.3:c.315G>A	XP_005272219.1:p.Gly105=
XM_006716932.2:c.1161G>A	XP_006716995.1:p.Gly387=
XM_011518140.2:c.1365G>A	XP_011516442.1:p.Gly455=
XM_011518141.2:c.1299G>A	XP_011516443.1:p.Gly433=
XM_011518142.2:c.1203G>A	XP_011516444.1:p.Gly401=
XM_011518143.2:c.1197G>A	XP_011516445.1:p.Gly399=
XM_011518145.2:c.1056G>A	XP_011516447.1:p.Gly352=
XM_017014205.2:c.315G>A	XP_016869694.1:p.Gly105=
XM_024447380.1:c.315G>A	XP_024303148.1:p.Gly105=
XM_024447381.1:c.621G>A	XP_024303149.1:p.Gly207=
XM_024447382.1:c.315G>A	XP_024303150.1:p.Gly105=
XR_001746160.2:n.1616G>A
XR_001746162.2:n.1821G>A
XR_001746164.1:n.1538G>A
XR_001746166.2:n.1833G>A
NM_001077365.2:c.1446G>A MANE Select	NP_001070833.1:p.Gly482=
NM_001077366.2:c.1284G>A	NP_001070834.1:p.Gly428=
NM_001136113.2:c.1446G>A	NP_001129585.1:p.Gly482=
NM_001136114.2:c.1095G>A	NP_001129586.1:p.Gly365=
NM_001353193.2:c.1512G>A	NP_001340122.2:p.Gly504=
NM_001353194.2:c.1284G>A	NP_001340123.1:p.Gly428=
NM_001353195.2:c.1095G>A	NP_001340124.1:p.Gly365=
NM_001353196.2:c.1356G>A	NP_001340125.1:p.Gly452=
NM_001353197.2:c.1350G>A	NP_001340126.2:p.Gly450=
NM_001353198.2:c.1350G>A	NP_001340127.2:p.Gly450=
NM_001353199.2:c.1161G>A	NP_001340128.2:p.Gly387=
NM_001353200.2:c.990G>A	NP_001340129.1:p.Gly330=
NM_001374689.1:c.1434G>A	NP_001361618.1:p.Gly478=
NM_001374690.1:c.1365+380G>A	NP_001361619.1:n.1365+380G>A
NM_001374691.1:c.1095G>A	NP_001361620.1:p.Gly365=
NM_001374692.1:c.1095G>A	NP_001361621.1:p.Gly365=
NM_001374693.1:c.1095G>A	NP_001361622.1:p.Gly365=
NM_001374695.1:c.1056G>A	NP_001361624.1:p.Gly352=
NM_007171.4:c.1512G>A	NP_009102.4:p.Gly504=
NR_148391.2:n.1480G>A
NR_148392.2:n.1698G>A
NR_148393.2:n.1619G>A
NR_148394.2:n.1373G>A
NR_148395.2:n.1771G>A
NR_148396.2:n.1405G>A
NR_148397.2:n.1530G>A
NR_148398.2:n.1485G>A
NR_148399.2:n.2011G>A
NR_148400.2:n.1610G>A