Canonical Allele Identifier: CA375311736

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134394234C>A (hg19) ; chr9:g.131518847C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518847C>A , CM000671.2:g.131518847C>A	GRCh38
NC_000009.11:g.134394234C>A , CM000671.1:g.134394234C>A	GRCh37
NC_000009.10:g.133384055C>A	NCBI36
NG_008896.1:g.20946C>A
NG_008896.2:g.20946C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1214C>A	ENSP00000343034.7:p.Ala405Asp
ENST00000404875.7:n.1916C>A
ENST00000423007.6:c.1433C>A	ENSP00000404119.2:p.Ala478Asp
ENST00000677295.2:c.*1720C>A	ENSP00000504346.2:n.*1720C>A
ENST00000678264.2:c.*1559C>A	ENSP00000503157.2:n.*1559C>A
ENST00000682070.1:n.1841C>A
ENST00000682539.1:c.314C>A
ENST00000682813.1:n.1780C>A
ENST00000683392.1:n.4123C>A
ENST00000683712.1:n.1781C>A
ENST00000683900.1:n.3276C>A
ENST00000684062.1:n.2042C>A
ENST00000684579.1:n.3222C>A
ENST00000684679.1:n.603C>A
ENST00000341012.12:c.1214C>A	ENSP00000343034.7:p.Ala405Asp
ENST00000372220.5:c.245C>A	ENSP00000361294.5:p.Ala82Asp
ENST00000372228.9:c.1442C>A	ENSP00000361302.3:p.Ala481Asp
ENST00000402686.8:c.1376C>A MANE Select	ENSP00000385797.4:p.Ala459Asp
ENST00000676640.1:c.1376C>A	ENSP00000503281.1:p.Ala459Asp
ENST00000676803.1:c.551C>A	ENSP00000503093.1:p.Ala184Asp
ENST00000676835.1:c.*591C>A	ENSP00000502911.1:n.*591C>A
ENST00000677029.1:c.920C>A	ENSP00000502936.1:p.Ala307Asp
ENST00000677099.1:c.*1086C>A	ENSP00000504553.1:n.*1086C>A
ENST00000677216.1:c.1025C>A	ENSP00000503772.1:p.Ala342Asp
ENST00000677221.1:n.401C>A
ENST00000677295.1:c.*753C>A	ENSP00000504346.1:n.*753C>A
ENST00000677444.1:c.1321C>A
ENST00000677586.1:n.857C>A
ENST00000677626.1:c.1025C>A	ENSP00000503552.1:p.Ala342Asp
ENST00000677677.1:n.1336C>A
ENST00000677853.1:c.*384C>A	ENSP00000503488.1:n.*384C>A
ENST00000678202.1:n.535C>A
ENST00000678264.1:c.*753C>A	ENSP00000503157.1:n.*753C>A
ENST00000678303.1:c.1286C>A	ENSP00000503696.1:p.Ala429Asp
ENST00000678366.1:c.*1625C>A	ENSP00000504353.1:n.*1625C>A
ENST00000678546.1:c.*1321C>A	ENSP00000503062.1:n.*1321C>A
ENST00000678548.1:c.*1448C>A	ENSP00000503934.1:n.*1448C>A
ENST00000678626.1:n.1212C>A
ENST00000678733.1:c.457C>A
ENST00000678739.1:c.*1702C>A	ENSP00000503806.1:n.*1702C>A
ENST00000678833.1:c.*823C>A	ENSP00000503893.1:n.*823C>A
ENST00000679023.1:c.1214C>A	ENSP00000503718.1:p.Ala405Asp
ENST00000679076.1:c.995C>A
ENST00000679111.1:c.*132C>A	ENSP00000504257.1:n.*132C>A
ENST00000679189.1:c.1025C>A	ENSP00000503356.1:p.Ala342Asp
ENST00000341012.11:c.1214C>A	ENSP00000343034.7:p.Ala405Asp
ENST00000372220.4:c.239C>A	ENSP00000361294.4:p.Ala80Asp
ENST00000372228.7:c.1442C>A	ENSP00000361302.3:p.Ala481Asp
ENST00000402686.7:c.1376C>A	ENSP00000385797.3:p.Ala459Asp
ENST00000404875.6:c.1025C>A	ENSP00000384531.2:p.Ala342Asp
ENST00000423007.5:c.1376C>A	ENSP00000404119.1:p.Ala459Asp
ENST00000467848.1:n.80C>A
ENST00000485278.5:n.1931C>A
NM_001077365.1:c.1376C>A	NP_001070833.1:p.Ala459Asp
NM_001077366.1:c.1214C>A	NP_001070834.1:p.Ala405Asp
NM_001136113.1:c.1376C>A	NP_001129585.1:p.Ala459Asp
NM_001136114.1:c.1025C>A	NP_001129586.1:p.Ala342Asp
NM_007171.3:c.1442C>A	NP_009102.3:p.Ala481Asp
XM_005272156.1:c.1442C>A	XP_005272213.1:p.Ala481Asp
XM_005272158.1:c.1280C>A	XP_005272215.1:p.Ala427Asp
XM_005272159.1:c.1091C>A	XP_005272216.1:p.Ala364Asp
XM_005272162.1:c.245C>A	XP_005272219.1:p.Ala82Asp
XM_006716932.1:c.1091C>A	XP_006716995.1:p.Ala364Asp
XM_011518140.1:c.1295C>A	XP_011516442.1:p.Ala432Asp
XM_011518141.1:c.1229C>A	XP_011516443.1:p.Ala410Asp
XM_011518142.1:c.1133C>A	XP_011516444.1:p.Ala378Asp
XM_011518143.1:c.1127C>A	XP_011516445.1:p.Ala376Asp
XM_011518144.1:c.*132C>A	XP_011516446.1:n.*132C>A
XM_011518145.1:c.986C>A	XP_011516447.1:p.Ala329Asp
XM_011518146.1:c.*132C>A	XP_011516448.1:n.*132C>A
XM_011518147.1:c.314C>A	XP_011516449.1:p.Ala105Asp
XR_929703.1:n.1618C>A
NM_001353193.1:c.1442C>A	NP_001340122.1:p.Ala481Asp
NM_001353194.1:c.1214C>A	NP_001340123.1:p.Ala405Asp
NM_001353195.1:c.1025C>A	NP_001340124.1:p.Ala342Asp
NM_001353196.1:c.1286C>A	NP_001340125.1:p.Ala429Asp
NM_001353197.1:c.1280C>A	NP_001340126.1:p.Ala427Asp
NM_001353198.1:c.1280C>A	NP_001340127.1:p.Ala427Asp
NM_001353199.1:c.1091C>A	NP_001340128.1:p.Ala364Asp
NM_001353200.1:c.920C>A	NP_001340129.1:p.Ala307Asp
NR_148391.1:n.1426C>A
NR_148392.1:n.1644C>A
NR_148393.1:n.1565C>A
NR_148394.1:n.1319C>A
NR_148395.1:n.1717C>A
NR_148396.1:n.1351C>A
NR_148397.1:n.1476C>A
NR_148398.1:n.1431C>A
NR_148399.1:n.1957C>A
NR_148400.1:n.1556C>A
XM_005272162.3:c.245C>A	XP_005272219.1:p.Ala82Asp
XM_006716932.2:c.1091C>A	XP_006716995.1:p.Ala364Asp
XM_011518140.2:c.1295C>A	XP_011516442.1:p.Ala432Asp
XM_011518141.2:c.1229C>A	XP_011516443.1:p.Ala410Asp
XM_011518142.2:c.1133C>A	XP_011516444.1:p.Ala378Asp
XM_011518143.2:c.1127C>A	XP_011516445.1:p.Ala376Asp
XM_011518145.2:c.986C>A	XP_011516447.1:p.Ala329Asp
XM_017014205.2:c.245C>A	XP_016869694.1:p.Ala82Asp
XM_024447380.1:c.245C>A	XP_024303148.1:p.Ala82Asp
XM_024447381.1:c.551C>A	XP_024303149.1:p.Ala184Asp
XM_024447382.1:c.245C>A	XP_024303150.1:p.Ala82Asp
XR_001746160.2:n.1546C>A
XR_001746162.2:n.1751C>A
XR_001746164.1:n.1468C>A
XR_001746166.2:n.1763C>A
NM_001077365.2:c.1376C>A MANE Select	NP_001070833.1:p.Ala459Asp
NM_001077366.2:c.1214C>A	NP_001070834.1:p.Ala405Asp
NM_001136113.2:c.1376C>A	NP_001129585.1:p.Ala459Asp
NM_001136114.2:c.1025C>A	NP_001129586.1:p.Ala342Asp
NM_001353193.2:c.1442C>A	NP_001340122.2:p.Ala481Asp
NM_001353194.2:c.1214C>A	NP_001340123.1:p.Ala405Asp
NM_001353195.2:c.1025C>A	NP_001340124.1:p.Ala342Asp
NM_001353196.2:c.1286C>A	NP_001340125.1:p.Ala429Asp
NM_001353197.2:c.1280C>A	NP_001340126.2:p.Ala427Asp
NM_001353198.2:c.1280C>A	NP_001340127.2:p.Ala427Asp
NM_001353199.2:c.1091C>A	NP_001340128.2:p.Ala364Asp
NM_001353200.2:c.920C>A	NP_001340129.1:p.Ala307Asp
NM_001374689.1:c.1364C>A	NP_001361618.1:p.Ala455Asp
NM_001374690.1:c.1365+310C>A	NP_001361619.1:n.1365+310C>A
NM_001374691.1:c.1025C>A	NP_001361620.1:p.Ala342Asp
NM_001374692.1:c.1025C>A	NP_001361621.1:p.Ala342Asp
NM_001374693.1:c.1025C>A	NP_001361622.1:p.Ala342Asp
NM_001374695.1:c.986C>A	NP_001361624.1:p.Ala329Asp
NM_007171.4:c.1442C>A	NP_009102.4:p.Ala481Asp
NR_148391.2:n.1410C>A
NR_148392.2:n.1628C>A
NR_148393.2:n.1549C>A
NR_148394.2:n.1303C>A
NR_148395.2:n.1701C>A
NR_148396.2:n.1335C>A
NR_148397.2:n.1460C>A
NR_148398.2:n.1415C>A
NR_148399.2:n.1941C>A
NR_148400.2:n.1540C>A