Canonical Allele Identifier: CA375311952

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134394285T>A (hg19) ; chr9:g.131518898T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518898T>A , CM000671.2:g.131518898T>A	GRCh38
NC_000009.11:g.134394285T>A , CM000671.1:g.134394285T>A	GRCh37
NC_000009.10:g.133384106T>A	NCBI36
NG_008896.1:g.20997T>A
NG_008896.2:g.20997T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1265T>A	ENSP00000343034.7:p.Leu422Gln
ENST00000404875.7:n.1967T>A
ENST00000423007.6:c.1484T>A	ENSP00000404119.2:p.Leu495Gln
ENST00000677295.2:c.*1771T>A	ENSP00000504346.2:n.*1771T>A
ENST00000678264.2:c.*1610T>A	ENSP00000503157.2:n.*1610T>A
ENST00000682070.1:n.1892T>A
ENST00000682539.1:c.365T>A
ENST00000682813.1:n.1831T>A
ENST00000683392.1:n.4174T>A
ENST00000683712.1:n.1832T>A
ENST00000683900.1:n.3327T>A
ENST00000684062.1:n.2093T>A
ENST00000684579.1:n.3273T>A
ENST00000684679.1:n.654T>A
ENST00000341012.12:c.1265T>A	ENSP00000343034.7:p.Leu422Gln
ENST00000372220.5:c.296T>A	ENSP00000361294.5:p.Leu99Gln
ENST00000372228.9:c.1493T>A	ENSP00000361302.3:p.Leu498Gln
ENST00000402686.8:c.1427T>A MANE Select	ENSP00000385797.4:p.Leu476Gln
ENST00000676640.1:c.1427T>A	ENSP00000503281.1:p.Leu476Gln
ENST00000676803.1:c.602T>A	ENSP00000503093.1:p.Leu201Gln
ENST00000676835.1:c.*642T>A	ENSP00000502911.1:n.*642T>A
ENST00000677029.1:c.971T>A	ENSP00000502936.1:p.Leu324Gln
ENST00000677099.1:c.*1137T>A	ENSP00000504553.1:n.*1137T>A
ENST00000677216.1:c.1076T>A	ENSP00000503772.1:p.Leu359Gln
ENST00000677221.1:n.452T>A
ENST00000677295.1:c.*804T>A	ENSP00000504346.1:n.*804T>A
ENST00000677444.1:c.1372T>A
ENST00000677586.1:n.908T>A
ENST00000677626.1:c.1076T>A	ENSP00000503552.1:p.Leu359Gln
ENST00000677677.1:n.1387T>A
ENST00000677853.1:c.*435T>A	ENSP00000503488.1:n.*435T>A
ENST00000678202.1:n.586T>A
ENST00000678264.1:c.*804T>A	ENSP00000503157.1:n.*804T>A
ENST00000678303.1:c.1337T>A	ENSP00000503696.1:p.Leu446Gln
ENST00000678366.1:c.*1676T>A	ENSP00000504353.1:n.*1676T>A
ENST00000678546.1:c.*1372T>A	ENSP00000503062.1:n.*1372T>A
ENST00000678548.1:c.*1499T>A	ENSP00000503934.1:n.*1499T>A
ENST00000678626.1:n.1263T>A
ENST00000678733.1:c.508T>A
ENST00000678739.1:c.*1753T>A	ENSP00000503806.1:n.*1753T>A
ENST00000678833.1:c.*874T>A	ENSP00000503893.1:n.*874T>A
ENST00000679023.1:c.1265T>A	ENSP00000503718.1:p.Leu422Gln
ENST00000679076.1:c.1046T>A
ENST00000679111.1:c.*183T>A	ENSP00000504257.1:n.*183T>A
ENST00000679189.1:c.1076T>A	ENSP00000503356.1:p.Leu359Gln
ENST00000341012.11:c.1265T>A	ENSP00000343034.7:p.Leu422Gln
ENST00000372220.4:c.290T>A	ENSP00000361294.4:p.Leu97Gln
ENST00000372228.7:c.1493T>A	ENSP00000361302.3:p.Leu498Gln
ENST00000402686.7:c.1427T>A	ENSP00000385797.3:p.Leu476Gln
ENST00000404875.6:c.1076T>A	ENSP00000384531.2:p.Leu359Gln
ENST00000423007.5:c.1427T>A	ENSP00000404119.1:p.Leu476Gln
ENST00000467848.1:n.131T>A
ENST00000485278.5:n.1982T>A
NM_001077365.1:c.1427T>A	NP_001070833.1:p.Leu476Gln
NM_001077366.1:c.1265T>A	NP_001070834.1:p.Leu422Gln
NM_001136113.1:c.1427T>A	NP_001129585.1:p.Leu476Gln
NM_001136114.1:c.1076T>A	NP_001129586.1:p.Leu359Gln
NM_007171.3:c.1493T>A	NP_009102.3:p.Leu498Gln
XM_005272156.1:c.1493T>A	XP_005272213.1:p.Leu498Gln
XM_005272158.1:c.1331T>A	XP_005272215.1:p.Leu444Gln
XM_005272159.1:c.1142T>A	XP_005272216.1:p.Leu381Gln
XM_005272162.1:c.296T>A	XP_005272219.1:p.Leu99Gln
XM_006716932.1:c.1142T>A	XP_006716995.1:p.Leu381Gln
XM_011518140.1:c.1346T>A	XP_011516442.1:p.Leu449Gln
XM_011518141.1:c.1280T>A	XP_011516443.1:p.Leu427Gln
XM_011518142.1:c.1184T>A	XP_011516444.1:p.Leu395Gln
XM_011518143.1:c.1178T>A	XP_011516445.1:p.Leu393Gln
XM_011518145.1:c.1037T>A	XP_011516447.1:p.Leu346Gln
XM_011518147.1:c.365T>A	XP_011516449.1:p.Leu122Gln
XR_929703.1:n.1669T>A
NM_001353193.1:c.1493T>A	NP_001340122.1:p.Leu498Gln
NM_001353194.1:c.1265T>A	NP_001340123.1:p.Leu422Gln
NM_001353195.1:c.1076T>A	NP_001340124.1:p.Leu359Gln
NM_001353196.1:c.1337T>A	NP_001340125.1:p.Leu446Gln
NM_001353197.1:c.1331T>A	NP_001340126.1:p.Leu444Gln
NM_001353198.1:c.1331T>A	NP_001340127.1:p.Leu444Gln
NM_001353199.1:c.1142T>A	NP_001340128.1:p.Leu381Gln
NM_001353200.1:c.971T>A	NP_001340129.1:p.Leu324Gln
NR_148391.1:n.1477T>A
NR_148392.1:n.1695T>A
NR_148393.1:n.1616T>A
NR_148394.1:n.1370T>A
NR_148395.1:n.1768T>A
NR_148396.1:n.1402T>A
NR_148397.1:n.1527T>A
NR_148398.1:n.1482T>A
NR_148399.1:n.2008T>A
NR_148400.1:n.1607T>A
XM_005272162.3:c.296T>A	XP_005272219.1:p.Leu99Gln
XM_006716932.2:c.1142T>A	XP_006716995.1:p.Leu381Gln
XM_011518140.2:c.1346T>A	XP_011516442.1:p.Leu449Gln
XM_011518141.2:c.1280T>A	XP_011516443.1:p.Leu427Gln
XM_011518142.2:c.1184T>A	XP_011516444.1:p.Leu395Gln
XM_011518143.2:c.1178T>A	XP_011516445.1:p.Leu393Gln
XM_011518145.2:c.1037T>A	XP_011516447.1:p.Leu346Gln
XM_017014205.2:c.296T>A	XP_016869694.1:p.Leu99Gln
XM_024447380.1:c.296T>A	XP_024303148.1:p.Leu99Gln
XM_024447381.1:c.602T>A	XP_024303149.1:p.Leu201Gln
XM_024447382.1:c.296T>A	XP_024303150.1:p.Leu99Gln
XR_001746160.2:n.1597T>A
XR_001746162.2:n.1802T>A
XR_001746164.1:n.1519T>A
XR_001746166.2:n.1814T>A
NM_001077365.2:c.1427T>A MANE Select	NP_001070833.1:p.Leu476Gln
NM_001077366.2:c.1265T>A	NP_001070834.1:p.Leu422Gln
NM_001136113.2:c.1427T>A	NP_001129585.1:p.Leu476Gln
NM_001136114.2:c.1076T>A	NP_001129586.1:p.Leu359Gln
NM_001353193.2:c.1493T>A	NP_001340122.2:p.Leu498Gln
NM_001353194.2:c.1265T>A	NP_001340123.1:p.Leu422Gln
NM_001353195.2:c.1076T>A	NP_001340124.1:p.Leu359Gln
NM_001353196.2:c.1337T>A	NP_001340125.1:p.Leu446Gln
NM_001353197.2:c.1331T>A	NP_001340126.2:p.Leu444Gln
NM_001353198.2:c.1331T>A	NP_001340127.2:p.Leu444Gln
NM_001353199.2:c.1142T>A	NP_001340128.2:p.Leu381Gln
NM_001353200.2:c.971T>A	NP_001340129.1:p.Leu324Gln
NM_001374689.1:c.1415T>A	NP_001361618.1:p.Leu472Gln
NM_001374690.1:c.1365+361T>A	NP_001361619.1:n.1365+361T>A
NM_001374691.1:c.1076T>A	NP_001361620.1:p.Leu359Gln
NM_001374692.1:c.1076T>A	NP_001361621.1:p.Leu359Gln
NM_001374693.1:c.1076T>A	NP_001361622.1:p.Leu359Gln
NM_001374695.1:c.1037T>A	NP_001361624.1:p.Leu346Gln
NM_007171.4:c.1493T>A	NP_009102.4:p.Leu498Gln
NR_148391.2:n.1461T>A
NR_148392.2:n.1679T>A
NR_148393.2:n.1600T>A
NR_148394.2:n.1354T>A
NR_148395.2:n.1752T>A
NR_148396.2:n.1386T>A
NR_148397.2:n.1511T>A
NR_148398.2:n.1466T>A
NR_148399.2:n.1992T>A
NR_148400.2:n.1591T>A