Canonical Allele Identifier: CA467423498

Gene: POMT1

Linked Data

• dbSNP Id: rs1478960799
• gnomAD v2: 9-134394263-C-T
• gnomAD v4: 9-131518876-C-T
• MyVariant Identifiers: chr9:g.134394263C>T (hg19) ; chr9:g.131518876C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518876C>T , CM000671.2:g.131518876C>T	GRCh38
NC_000009.11:g.134394263C>T , CM000671.1:g.134394263C>T	GRCh37
NC_000009.10:g.133384084C>T	NCBI36
NG_008896.1:g.20975C>T
NG_008896.2:g.20975C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1243C>T	ENSP00000343034.7:p.Leu415=
ENST00000404875.7:n.1945C>T
ENST00000423007.6:c.1462C>T	ENSP00000404119.2:p.Leu488=
ENST00000677295.2:c.*1749C>T	ENSP00000504346.2:n.*1749C>T
ENST00000678264.2:c.*1588C>T	ENSP00000503157.2:n.*1588C>T
ENST00000682070.1:n.1870C>T
ENST00000682539.1:c.343C>T
ENST00000682813.1:n.1809C>T
ENST00000683392.1:n.4152C>T
ENST00000683712.1:n.1810C>T
ENST00000683900.1:n.3305C>T
ENST00000684062.1:n.2071C>T
ENST00000684579.1:n.3251C>T
ENST00000684679.1:n.632C>T
ENST00000341012.12:c.1243C>T	ENSP00000343034.7:p.Leu415=
ENST00000372220.5:c.274C>T	ENSP00000361294.5:p.Leu92=
ENST00000372228.9:c.1471C>T	ENSP00000361302.3:p.Leu491=
ENST00000402686.8:c.1405C>T MANE Select	ENSP00000385797.4:p.Leu469=
ENST00000676640.1:c.1405C>T	ENSP00000503281.1:p.Leu469=
ENST00000676803.1:c.580C>T	ENSP00000503093.1:p.Leu194=
ENST00000676835.1:c.*620C>T	ENSP00000502911.1:n.*620C>T
ENST00000677029.1:c.949C>T	ENSP00000502936.1:p.Leu317=
ENST00000677099.1:c.*1115C>T	ENSP00000504553.1:n.*1115C>T
ENST00000677216.1:c.1054C>T	ENSP00000503772.1:p.Leu352=
ENST00000677221.1:n.430C>T
ENST00000677295.1:c.*782C>T	ENSP00000504346.1:n.*782C>T
ENST00000677444.1:c.1350C>T
ENST00000677586.1:n.886C>T
ENST00000677626.1:c.1054C>T	ENSP00000503552.1:p.Leu352=
ENST00000677677.1:n.1365C>T
ENST00000677853.1:c.*413C>T	ENSP00000503488.1:n.*413C>T
ENST00000678202.1:n.564C>T
ENST00000678264.1:c.*782C>T	ENSP00000503157.1:n.*782C>T
ENST00000678303.1:c.1315C>T	ENSP00000503696.1:p.Leu439=
ENST00000678366.1:c.*1654C>T	ENSP00000504353.1:n.*1654C>T
ENST00000678546.1:c.*1350C>T	ENSP00000503062.1:n.*1350C>T
ENST00000678548.1:c.*1477C>T	ENSP00000503934.1:n.*1477C>T
ENST00000678626.1:n.1241C>T
ENST00000678733.1:c.486C>T
ENST00000678739.1:c.*1731C>T	ENSP00000503806.1:n.*1731C>T
ENST00000678833.1:c.*852C>T	ENSP00000503893.1:n.*852C>T
ENST00000679023.1:c.1243C>T	ENSP00000503718.1:p.Leu415=
ENST00000679076.1:c.1024C>T
ENST00000679111.1:c.*161C>T	ENSP00000504257.1:n.*161C>T
ENST00000679189.1:c.1054C>T	ENSP00000503356.1:p.Leu352=
ENST00000341012.11:c.1243C>T	ENSP00000343034.7:p.Leu415=
ENST00000372220.4:c.268C>T	ENSP00000361294.4:p.Leu90=
ENST00000372228.7:c.1471C>T	ENSP00000361302.3:p.Leu491=
ENST00000402686.7:c.1405C>T	ENSP00000385797.3:p.Leu469=
ENST00000404875.6:c.1054C>T	ENSP00000384531.2:p.Leu352=
ENST00000423007.5:c.1405C>T	ENSP00000404119.1:p.Leu469=
ENST00000467848.1:n.109C>T
ENST00000485278.5:n.1960C>T
NM_001077365.1:c.1405C>T	NP_001070833.1:p.Leu469=
NM_001077366.1:c.1243C>T	NP_001070834.1:p.Leu415=
NM_001136113.1:c.1405C>T	NP_001129585.1:p.Leu469=
NM_001136114.1:c.1054C>T	NP_001129586.1:p.Leu352=
NM_007171.3:c.1471C>T	NP_009102.3:p.Leu491=
XM_005272156.1:c.1471C>T	XP_005272213.1:p.Leu491=
XM_005272158.1:c.1309C>T	XP_005272215.1:p.Leu437=
XM_005272159.1:c.1120C>T	XP_005272216.1:p.Leu374=
XM_005272162.1:c.274C>T	XP_005272219.1:p.Leu92=
XM_006716932.1:c.1120C>T	XP_006716995.1:p.Leu374=
XM_011518140.1:c.1324C>T	XP_011516442.1:p.Leu442=
XM_011518141.1:c.1258C>T	XP_011516443.1:p.Leu420=
XM_011518142.1:c.1162C>T	XP_011516444.1:p.Leu388=
XM_011518143.1:c.1156C>T	XP_011516445.1:p.Leu386=
XM_011518144.1:c.*161C>T	XP_011516446.1:n.*161C>T
XM_011518145.1:c.1015C>T	XP_011516447.1:p.Leu339=
XM_011518146.1:c.*161C>T	XP_011516448.1:n.*161C>T
XM_011518147.1:c.343C>T	XP_011516449.1:p.Leu115=
XR_929703.1:n.1647C>T
NM_001353193.1:c.1471C>T	NP_001340122.1:p.Leu491=
NM_001353194.1:c.1243C>T	NP_001340123.1:p.Leu415=
NM_001353195.1:c.1054C>T	NP_001340124.1:p.Leu352=
NM_001353196.1:c.1315C>T	NP_001340125.1:p.Leu439=
NM_001353197.1:c.1309C>T	NP_001340126.1:p.Leu437=
NM_001353198.1:c.1309C>T	NP_001340127.1:p.Leu437=
NM_001353199.1:c.1120C>T	NP_001340128.1:p.Leu374=
NM_001353200.1:c.949C>T	NP_001340129.1:p.Leu317=
NR_148391.1:n.1455C>T
NR_148392.1:n.1673C>T
NR_148393.1:n.1594C>T
NR_148394.1:n.1348C>T
NR_148395.1:n.1746C>T
NR_148396.1:n.1380C>T
NR_148397.1:n.1505C>T
NR_148398.1:n.1460C>T
NR_148399.1:n.1986C>T
NR_148400.1:n.1585C>T
XM_005272162.3:c.274C>T	XP_005272219.1:p.Leu92=
XM_006716932.2:c.1120C>T	XP_006716995.1:p.Leu374=
XM_011518140.2:c.1324C>T	XP_011516442.1:p.Leu442=
XM_011518141.2:c.1258C>T	XP_011516443.1:p.Leu420=
XM_011518142.2:c.1162C>T	XP_011516444.1:p.Leu388=
XM_011518143.2:c.1156C>T	XP_011516445.1:p.Leu386=
XM_011518145.2:c.1015C>T	XP_011516447.1:p.Leu339=
XM_017014205.2:c.274C>T	XP_016869694.1:p.Leu92=
XM_024447380.1:c.274C>T	XP_024303148.1:p.Leu92=
XM_024447381.1:c.580C>T	XP_024303149.1:p.Leu194=
XM_024447382.1:c.274C>T	XP_024303150.1:p.Leu92=
XR_001746160.2:n.1575C>T
XR_001746162.2:n.1780C>T
XR_001746164.1:n.1497C>T
XR_001746166.2:n.1792C>T
NM_001077365.2:c.1405C>T MANE Select	NP_001070833.1:p.Leu469=
NM_001077366.2:c.1243C>T	NP_001070834.1:p.Leu415=
NM_001136113.2:c.1405C>T	NP_001129585.1:p.Leu469=
NM_001136114.2:c.1054C>T	NP_001129586.1:p.Leu352=
NM_001353193.2:c.1471C>T	NP_001340122.2:p.Leu491=
NM_001353194.2:c.1243C>T	NP_001340123.1:p.Leu415=
NM_001353195.2:c.1054C>T	NP_001340124.1:p.Leu352=
NM_001353196.2:c.1315C>T	NP_001340125.1:p.Leu439=
NM_001353197.2:c.1309C>T	NP_001340126.2:p.Leu437=
NM_001353198.2:c.1309C>T	NP_001340127.2:p.Leu437=
NM_001353199.2:c.1120C>T	NP_001340128.2:p.Leu374=
NM_001353200.2:c.949C>T	NP_001340129.1:p.Leu317=
NM_001374689.1:c.1393C>T	NP_001361618.1:p.Leu465=
NM_001374690.1:c.1365+339C>T	NP_001361619.1:n.1365+339C>T
NM_001374691.1:c.1054C>T	NP_001361620.1:p.Leu352=
NM_001374692.1:c.1054C>T	NP_001361621.1:p.Leu352=
NM_001374693.1:c.1054C>T	NP_001361622.1:p.Leu352=
NM_001374695.1:c.1015C>T	NP_001361624.1:p.Leu339=
NM_007171.4:c.1471C>T	NP_009102.4:p.Leu491=
NR_148391.2:n.1439C>T
NR_148392.2:n.1657C>T
NR_148393.2:n.1578C>T
NR_148394.2:n.1332C>T
NR_148395.2:n.1730C>T
NR_148396.2:n.1364C>T
NR_148397.2:n.1489C>T
NR_148398.2:n.1444C>T
NR_148399.2:n.1970C>T
NR_148400.2:n.1569C>T