Canonical Allele Identifier: CA467423515

Gene: POMT1

Linked Data

• dbSNP Id: rs2131855900
• MyVariant Identifiers: chr9:g.134394289C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518902C>T , CM000671.2:g.131518902C>T	GRCh38
NC_000009.11:g.134394289C>T , CM000671.1:g.134394289C>T	GRCh37
NC_000009.10:g.133384110C>T	NCBI36
NG_008896.1:g.21001C>T
NG_008896.2:g.21001C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1269C>T	ENSP00000343034.7:p.Ser423=
ENST00000404875.7:n.1971C>T
ENST00000423007.6:c.1488C>T	ENSP00000404119.2:p.Ser496=
ENST00000677295.2:c.*1775C>T	ENSP00000504346.2:n.*1775C>T
ENST00000678264.2:c.*1614C>T	ENSP00000503157.2:n.*1614C>T
ENST00000682070.1:n.1896C>T
ENST00000682539.1:c.369C>T
ENST00000682813.1:n.1835C>T
ENST00000683392.1:n.4178C>T
ENST00000683712.1:n.1836C>T
ENST00000683900.1:n.3331C>T
ENST00000684062.1:n.2097C>T
ENST00000684579.1:n.3277C>T
ENST00000684679.1:n.658C>T
ENST00000341012.12:c.1269C>T	ENSP00000343034.7:p.Ser423=
ENST00000372220.5:c.300C>T	ENSP00000361294.5:p.Ser100=
ENST00000372228.9:c.1497C>T	ENSP00000361302.3:p.Ser499=
ENST00000402686.8:c.1431C>T MANE Select	ENSP00000385797.4:p.Ser477=
ENST00000676640.1:c.1431C>T	ENSP00000503281.1:p.Ser477=
ENST00000676803.1:c.606C>T	ENSP00000503093.1:p.Ser202=
ENST00000676835.1:c.*646C>T	ENSP00000502911.1:n.*646C>T
ENST00000677029.1:c.975C>T	ENSP00000502936.1:p.Ser325=
ENST00000677099.1:c.*1141C>T	ENSP00000504553.1:n.*1141C>T
ENST00000677216.1:c.1080C>T	ENSP00000503772.1:p.Ser360=
ENST00000677221.1:n.456C>T
ENST00000677295.1:c.*808C>T	ENSP00000504346.1:n.*808C>T
ENST00000677444.1:c.1376C>T
ENST00000677586.1:n.912C>T
ENST00000677626.1:c.1080C>T	ENSP00000503552.1:p.Ser360=
ENST00000677677.1:n.1391C>T
ENST00000677853.1:c.*439C>T	ENSP00000503488.1:n.*439C>T
ENST00000678202.1:n.590C>T
ENST00000678264.1:c.*808C>T	ENSP00000503157.1:n.*808C>T
ENST00000678303.1:c.1341C>T	ENSP00000503696.1:p.Ser447=
ENST00000678366.1:c.*1680C>T	ENSP00000504353.1:n.*1680C>T
ENST00000678546.1:c.*1376C>T	ENSP00000503062.1:n.*1376C>T
ENST00000678548.1:c.*1503C>T	ENSP00000503934.1:n.*1503C>T
ENST00000678626.1:n.1267C>T
ENST00000678733.1:c.512C>T
ENST00000678739.1:c.*1757C>T	ENSP00000503806.1:n.*1757C>T
ENST00000678833.1:c.*878C>T	ENSP00000503893.1:n.*878C>T
ENST00000679023.1:c.1269C>T	ENSP00000503718.1:p.Ser423=
ENST00000679076.1:c.1050C>T
ENST00000679111.1:c.*187C>T	ENSP00000504257.1:n.*187C>T
ENST00000679189.1:c.1080C>T	ENSP00000503356.1:p.Ser360=
ENST00000341012.11:c.1269C>T	ENSP00000343034.7:p.Ser423=
ENST00000372220.4:c.294C>T	ENSP00000361294.4:p.Ser98=
ENST00000372228.7:c.1497C>T	ENSP00000361302.3:p.Ser499=
ENST00000402686.7:c.1431C>T	ENSP00000385797.3:p.Ser477=
ENST00000404875.6:c.1080C>T	ENSP00000384531.2:p.Ser360=
ENST00000423007.5:c.1431C>T	ENSP00000404119.1:p.Ser477=
ENST00000467848.1:n.135C>T
ENST00000485278.5:n.1986C>T
NM_001077365.1:c.1431C>T	NP_001070833.1:p.Ser477=
NM_001077366.1:c.1269C>T	NP_001070834.1:p.Ser423=
NM_001136113.1:c.1431C>T	NP_001129585.1:p.Ser477=
NM_001136114.1:c.1080C>T	NP_001129586.1:p.Ser360=
NM_007171.3:c.1497C>T	NP_009102.3:p.Ser499=
XM_005272156.1:c.1497C>T	XP_005272213.1:p.Ser499=
XM_005272158.1:c.1335C>T	XP_005272215.1:p.Ser445=
XM_005272159.1:c.1146C>T	XP_005272216.1:p.Ser382=
XM_005272162.1:c.300C>T	XP_005272219.1:p.Ser100=
XM_006716932.1:c.1146C>T	XP_006716995.1:p.Ser382=
XM_011518140.1:c.1350C>T	XP_011516442.1:p.Ser450=
XM_011518141.1:c.1284C>T	XP_011516443.1:p.Ser428=
XM_011518142.1:c.1188C>T	XP_011516444.1:p.Ser396=
XM_011518143.1:c.1182C>T	XP_011516445.1:p.Ser394=
XM_011518145.1:c.1041C>T	XP_011516447.1:p.Ser347=
XM_011518147.1:c.369C>T	XP_011516449.1:p.Ser123=
XR_929703.1:n.1673C>T
NM_001353193.1:c.1497C>T	NP_001340122.1:p.Ser499=
NM_001353194.1:c.1269C>T	NP_001340123.1:p.Ser423=
NM_001353195.1:c.1080C>T	NP_001340124.1:p.Ser360=
NM_001353196.1:c.1341C>T	NP_001340125.1:p.Ser447=
NM_001353197.1:c.1335C>T	NP_001340126.1:p.Ser445=
NM_001353198.1:c.1335C>T	NP_001340127.1:p.Ser445=
NM_001353199.1:c.1146C>T	NP_001340128.1:p.Ser382=
NM_001353200.1:c.975C>T	NP_001340129.1:p.Ser325=
NR_148391.1:n.1481C>T
NR_148392.1:n.1699C>T
NR_148393.1:n.1620C>T
NR_148394.1:n.1374C>T
NR_148395.1:n.1772C>T
NR_148396.1:n.1406C>T
NR_148397.1:n.1531C>T
NR_148398.1:n.1486C>T
NR_148399.1:n.2012C>T
NR_148400.1:n.1611C>T
XM_005272162.3:c.300C>T	XP_005272219.1:p.Ser100=
XM_006716932.2:c.1146C>T	XP_006716995.1:p.Ser382=
XM_011518140.2:c.1350C>T	XP_011516442.1:p.Ser450=
XM_011518141.2:c.1284C>T	XP_011516443.1:p.Ser428=
XM_011518142.2:c.1188C>T	XP_011516444.1:p.Ser396=
XM_011518143.2:c.1182C>T	XP_011516445.1:p.Ser394=
XM_011518145.2:c.1041C>T	XP_011516447.1:p.Ser347=
XM_017014205.2:c.300C>T	XP_016869694.1:p.Ser100=
XM_024447380.1:c.300C>T	XP_024303148.1:p.Ser100=
XM_024447381.1:c.606C>T	XP_024303149.1:p.Ser202=
XM_024447382.1:c.300C>T	XP_024303150.1:p.Ser100=
XR_001746160.2:n.1601C>T
XR_001746162.2:n.1806C>T
XR_001746164.1:n.1523C>T
XR_001746166.2:n.1818C>T
NM_001077365.2:c.1431C>T MANE Select	NP_001070833.1:p.Ser477=
NM_001077366.2:c.1269C>T	NP_001070834.1:p.Ser423=
NM_001136113.2:c.1431C>T	NP_001129585.1:p.Ser477=
NM_001136114.2:c.1080C>T	NP_001129586.1:p.Ser360=
NM_001353193.2:c.1497C>T	NP_001340122.2:p.Ser499=
NM_001353194.2:c.1269C>T	NP_001340123.1:p.Ser423=
NM_001353195.2:c.1080C>T	NP_001340124.1:p.Ser360=
NM_001353196.2:c.1341C>T	NP_001340125.1:p.Ser447=
NM_001353197.2:c.1335C>T	NP_001340126.2:p.Ser445=
NM_001353198.2:c.1335C>T	NP_001340127.2:p.Ser445=
NM_001353199.2:c.1146C>T	NP_001340128.2:p.Ser382=
NM_001353200.2:c.975C>T	NP_001340129.1:p.Ser325=
NM_001374689.1:c.1419C>T	NP_001361618.1:p.Ser473=
NM_001374690.1:c.1365+365C>T	NP_001361619.1:n.1365+365C>T
NM_001374691.1:c.1080C>T	NP_001361620.1:p.Ser360=
NM_001374692.1:c.1080C>T	NP_001361621.1:p.Ser360=
NM_001374693.1:c.1080C>T	NP_001361622.1:p.Ser360=
NM_001374695.1:c.1041C>T	NP_001361624.1:p.Ser347=
NM_007171.4:c.1497C>T	NP_009102.4:p.Ser499=
NR_148391.2:n.1465C>T
NR_148392.2:n.1683C>T
NR_148393.2:n.1604C>T
NR_148394.2:n.1358C>T
NR_148395.2:n.1756C>T
NR_148396.2:n.1390C>T
NR_148397.2:n.1515C>T
NR_148398.2:n.1470C>T
NR_148399.2:n.1996C>T
NR_148400.2:n.1595C>T