Canonical Allele Identifier: CA375311861

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134394261A>C (hg19) ; chr9:g.131518874A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518874A>C , CM000671.2:g.131518874A>C	GRCh38
NC_000009.11:g.134394261A>C , CM000671.1:g.134394261A>C	GRCh37
NC_000009.10:g.133384082A>C	NCBI36
NG_008896.1:g.20973A>C
NG_008896.2:g.20973A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1241A>C	ENSP00000343034.7:p.Gln414Pro
ENST00000404875.7:n.1943A>C
ENST00000423007.6:c.1460A>C	ENSP00000404119.2:p.Gln487Pro
ENST00000677295.2:c.*1747A>C	ENSP00000504346.2:n.*1747A>C
ENST00000678264.2:c.*1586A>C	ENSP00000503157.2:n.*1586A>C
ENST00000682070.1:n.1868A>C
ENST00000682539.1:c.341A>C
ENST00000682813.1:n.1807A>C
ENST00000683392.1:n.4150A>C
ENST00000683712.1:n.1808A>C
ENST00000683900.1:n.3303A>C
ENST00000684062.1:n.2069A>C
ENST00000684579.1:n.3249A>C
ENST00000684679.1:n.630A>C
ENST00000341012.12:c.1241A>C	ENSP00000343034.7:p.Gln414Pro
ENST00000372220.5:c.272A>C	ENSP00000361294.5:p.Gln91Pro
ENST00000372228.9:c.1469A>C	ENSP00000361302.3:p.Gln490Pro
ENST00000402686.8:c.1403A>C MANE Select	ENSP00000385797.4:p.Gln468Pro
ENST00000676640.1:c.1403A>C	ENSP00000503281.1:p.Gln468Pro
ENST00000676803.1:c.578A>C	ENSP00000503093.1:p.Gln193Pro
ENST00000676835.1:c.*618A>C	ENSP00000502911.1:n.*618A>C
ENST00000677029.1:c.947A>C	ENSP00000502936.1:p.Gln316Pro
ENST00000677099.1:c.*1113A>C	ENSP00000504553.1:n.*1113A>C
ENST00000677216.1:c.1052A>C	ENSP00000503772.1:p.Gln351Pro
ENST00000677221.1:n.428A>C
ENST00000677295.1:c.*780A>C	ENSP00000504346.1:n.*780A>C
ENST00000677444.1:c.1348A>C
ENST00000677586.1:n.884A>C
ENST00000677626.1:c.1052A>C	ENSP00000503552.1:p.Gln351Pro
ENST00000677677.1:n.1363A>C
ENST00000677853.1:c.*411A>C	ENSP00000503488.1:n.*411A>C
ENST00000678202.1:n.562A>C
ENST00000678264.1:c.*780A>C	ENSP00000503157.1:n.*780A>C
ENST00000678303.1:c.1313A>C	ENSP00000503696.1:p.Gln438Pro
ENST00000678366.1:c.*1652A>C	ENSP00000504353.1:n.*1652A>C
ENST00000678546.1:c.*1348A>C	ENSP00000503062.1:n.*1348A>C
ENST00000678548.1:c.*1475A>C	ENSP00000503934.1:n.*1475A>C
ENST00000678626.1:n.1239A>C
ENST00000678733.1:c.484A>C
ENST00000678739.1:c.*1729A>C	ENSP00000503806.1:n.*1729A>C
ENST00000678833.1:c.*850A>C	ENSP00000503893.1:n.*850A>C
ENST00000679023.1:c.1241A>C	ENSP00000503718.1:p.Gln414Pro
ENST00000679076.1:c.1022A>C
ENST00000679111.1:c.*159A>C	ENSP00000504257.1:n.*159A>C
ENST00000679189.1:c.1052A>C	ENSP00000503356.1:p.Gln351Pro
ENST00000341012.11:c.1241A>C	ENSP00000343034.7:p.Gln414Pro
ENST00000372220.4:c.266A>C	ENSP00000361294.4:p.Gln89Pro
ENST00000372228.7:c.1469A>C	ENSP00000361302.3:p.Gln490Pro
ENST00000402686.7:c.1403A>C	ENSP00000385797.3:p.Gln468Pro
ENST00000404875.6:c.1052A>C	ENSP00000384531.2:p.Gln351Pro
ENST00000423007.5:c.1403A>C	ENSP00000404119.1:p.Gln468Pro
ENST00000467848.1:n.107A>C
ENST00000485278.5:n.1958A>C
NM_001077365.1:c.1403A>C	NP_001070833.1:p.Gln468Pro
NM_001077366.1:c.1241A>C	NP_001070834.1:p.Gln414Pro
NM_001136113.1:c.1403A>C	NP_001129585.1:p.Gln468Pro
NM_001136114.1:c.1052A>C	NP_001129586.1:p.Gln351Pro
NM_007171.3:c.1469A>C	NP_009102.3:p.Gln490Pro
XM_005272156.1:c.1469A>C	XP_005272213.1:p.Gln490Pro
XM_005272158.1:c.1307A>C	XP_005272215.1:p.Gln436Pro
XM_005272159.1:c.1118A>C	XP_005272216.1:p.Gln373Pro
XM_005272162.1:c.272A>C	XP_005272219.1:p.Gln91Pro
XM_006716932.1:c.1118A>C	XP_006716995.1:p.Gln373Pro
XM_011518140.1:c.1322A>C	XP_011516442.1:p.Gln441Pro
XM_011518141.1:c.1256A>C	XP_011516443.1:p.Gln419Pro
XM_011518142.1:c.1160A>C	XP_011516444.1:p.Gln387Pro
XM_011518143.1:c.1154A>C	XP_011516445.1:p.Gln385Pro
XM_011518144.1:c.*159A>C	XP_011516446.1:n.*159A>C
XM_011518145.1:c.1013A>C	XP_011516447.1:p.Gln338Pro
XM_011518146.1:c.*159A>C	XP_011516448.1:n.*159A>C
XM_011518147.1:c.341A>C	XP_011516449.1:p.Gln114Pro
XR_929703.1:n.1645A>C
NM_001353193.1:c.1469A>C	NP_001340122.1:p.Gln490Pro
NM_001353194.1:c.1241A>C	NP_001340123.1:p.Gln414Pro
NM_001353195.1:c.1052A>C	NP_001340124.1:p.Gln351Pro
NM_001353196.1:c.1313A>C	NP_001340125.1:p.Gln438Pro
NM_001353197.1:c.1307A>C	NP_001340126.1:p.Gln436Pro
NM_001353198.1:c.1307A>C	NP_001340127.1:p.Gln436Pro
NM_001353199.1:c.1118A>C	NP_001340128.1:p.Gln373Pro
NM_001353200.1:c.947A>C	NP_001340129.1:p.Gln316Pro
NR_148391.1:n.1453A>C
NR_148392.1:n.1671A>C
NR_148393.1:n.1592A>C
NR_148394.1:n.1346A>C
NR_148395.1:n.1744A>C
NR_148396.1:n.1378A>C
NR_148397.1:n.1503A>C
NR_148398.1:n.1458A>C
NR_148399.1:n.1984A>C
NR_148400.1:n.1583A>C
XM_005272162.3:c.272A>C	XP_005272219.1:p.Gln91Pro
XM_006716932.2:c.1118A>C	XP_006716995.1:p.Gln373Pro
XM_011518140.2:c.1322A>C	XP_011516442.1:p.Gln441Pro
XM_011518141.2:c.1256A>C	XP_011516443.1:p.Gln419Pro
XM_011518142.2:c.1160A>C	XP_011516444.1:p.Gln387Pro
XM_011518143.2:c.1154A>C	XP_011516445.1:p.Gln385Pro
XM_011518145.2:c.1013A>C	XP_011516447.1:p.Gln338Pro
XM_017014205.2:c.272A>C	XP_016869694.1:p.Gln91Pro
XM_024447380.1:c.272A>C	XP_024303148.1:p.Gln91Pro
XM_024447381.1:c.578A>C	XP_024303149.1:p.Gln193Pro
XM_024447382.1:c.272A>C	XP_024303150.1:p.Gln91Pro
XR_001746160.2:n.1573A>C
XR_001746162.2:n.1778A>C
XR_001746164.1:n.1495A>C
XR_001746166.2:n.1790A>C
NM_001077365.2:c.1403A>C MANE Select	NP_001070833.1:p.Gln468Pro
NM_001077366.2:c.1241A>C	NP_001070834.1:p.Gln414Pro
NM_001136113.2:c.1403A>C	NP_001129585.1:p.Gln468Pro
NM_001136114.2:c.1052A>C	NP_001129586.1:p.Gln351Pro
NM_001353193.2:c.1469A>C	NP_001340122.2:p.Gln490Pro
NM_001353194.2:c.1241A>C	NP_001340123.1:p.Gln414Pro
NM_001353195.2:c.1052A>C	NP_001340124.1:p.Gln351Pro
NM_001353196.2:c.1313A>C	NP_001340125.1:p.Gln438Pro
NM_001353197.2:c.1307A>C	NP_001340126.2:p.Gln436Pro
NM_001353198.2:c.1307A>C	NP_001340127.2:p.Gln436Pro
NM_001353199.2:c.1118A>C	NP_001340128.2:p.Gln373Pro
NM_001353200.2:c.947A>C	NP_001340129.1:p.Gln316Pro
NM_001374689.1:c.1391A>C	NP_001361618.1:p.Gln464Pro
NM_001374690.1:c.1365+337A>C	NP_001361619.1:n.1365+337A>C
NM_001374691.1:c.1052A>C	NP_001361620.1:p.Gln351Pro
NM_001374692.1:c.1052A>C	NP_001361621.1:p.Gln351Pro
NM_001374693.1:c.1052A>C	NP_001361622.1:p.Gln351Pro
NM_001374695.1:c.1013A>C	NP_001361624.1:p.Gln338Pro
NM_007171.4:c.1469A>C	NP_009102.4:p.Gln490Pro
NR_148391.2:n.1437A>C
NR_148392.2:n.1655A>C
NR_148393.2:n.1576A>C
NR_148394.2:n.1330A>C
NR_148395.2:n.1728A>C
NR_148396.2:n.1362A>C
NR_148397.2:n.1487A>C
NR_148398.2:n.1442A>C
NR_148399.2:n.1968A>C
NR_148400.2:n.1567A>C