Canonical Allele Identifier: CA375312095

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134394325G>T (hg19) ; chr9:g.131518938G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518938G>T , CM000671.2:g.131518938G>T	GRCh38
NC_000009.11:g.134394325G>T , CM000671.1:g.134394325G>T	GRCh37
NC_000009.10:g.133384146G>T	NCBI36
NG_008896.1:g.21037G>T
NG_008896.2:g.21037G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1305G>T	ENSP00000343034.7:p.Glu435Asp
ENST00000404875.7:n.2007G>T
ENST00000423007.6:c.1524G>T	ENSP00000404119.2:p.Glu508Asp
ENST00000677295.2:c.*1811G>T	ENSP00000504346.2:n.*1811G>T
ENST00000678264.2:c.*1650G>T	ENSP00000503157.2:n.*1650G>T
ENST00000682070.1:n.1932G>T
ENST00000682539.1:c.405G>T
ENST00000682813.1:n.1871G>T
ENST00000683392.1:n.4214G>T
ENST00000683712.1:n.1872G>T
ENST00000683900.1:n.3367G>T
ENST00000684062.1:n.2133G>T
ENST00000684579.1:n.3313G>T
ENST00000684679.1:n.694G>T
ENST00000341012.12:c.1305G>T	ENSP00000343034.7:p.Glu435Asp
ENST00000372220.5:c.336G>T	ENSP00000361294.5:p.Glu112Asp
ENST00000372228.9:c.1533G>T	ENSP00000361302.3:p.Glu511Asp
ENST00000402686.8:c.1467G>T MANE Select	ENSP00000385797.4:p.Glu489Asp
ENST00000676640.1:c.1467G>T	ENSP00000503281.1:p.Glu489Asp
ENST00000676803.1:c.642G>T	ENSP00000503093.1:p.Glu214Asp
ENST00000676835.1:c.*682G>T	ENSP00000502911.1:n.*682G>T
ENST00000677029.1:c.1011G>T	ENSP00000502936.1:p.Glu337Asp
ENST00000677099.1:c.*1177G>T	ENSP00000504553.1:n.*1177G>T
ENST00000677216.1:c.1116G>T	ENSP00000503772.1:p.Glu372Asp
ENST00000677221.1:n.492G>T
ENST00000677295.1:c.*844G>T	ENSP00000504346.1:n.*844G>T
ENST00000677444.1:c.1412G>T
ENST00000677586.1:n.948G>T
ENST00000677626.1:c.1116G>T	ENSP00000503552.1:p.Glu372Asp
ENST00000677677.1:n.1427G>T
ENST00000677853.1:c.*475G>T	ENSP00000503488.1:n.*475G>T
ENST00000678202.1:n.626G>T
ENST00000678264.1:c.*844G>T	ENSP00000503157.1:n.*844G>T
ENST00000678303.1:c.1377G>T	ENSP00000503696.1:p.Glu459Asp
ENST00000678366.1:c.*1716G>T	ENSP00000504353.1:n.*1716G>T
ENST00000678546.1:c.*1412G>T	ENSP00000503062.1:n.*1412G>T
ENST00000678548.1:c.*1539G>T	ENSP00000503934.1:n.*1539G>T
ENST00000678626.1:n.1303G>T
ENST00000678733.1:c.548G>T
ENST00000678739.1:c.*1793G>T	ENSP00000503806.1:n.*1793G>T
ENST00000678833.1:c.*914G>T	ENSP00000503893.1:n.*914G>T
ENST00000679023.1:c.1305G>T	ENSP00000503718.1:p.Glu435Asp
ENST00000679076.1:c.1086G>T
ENST00000679111.1:c.*223G>T	ENSP00000504257.1:n.*223G>T
ENST00000679189.1:c.1116G>T	ENSP00000503356.1:p.Glu372Asp
ENST00000341012.11:c.1305G>T	ENSP00000343034.7:p.Glu435Asp
ENST00000372220.4:c.330G>T	ENSP00000361294.4:p.Glu110Asp
ENST00000372228.7:c.1533G>T	ENSP00000361302.3:p.Glu511Asp
ENST00000402686.7:c.1467G>T	ENSP00000385797.3:p.Glu489Asp
ENST00000404875.6:c.1116G>T	ENSP00000384531.2:p.Glu372Asp
ENST00000423007.5:c.1467G>T	ENSP00000404119.1:p.Glu489Asp
ENST00000467848.1:n.171G>T
ENST00000485278.5:n.2022G>T
NM_001077365.1:c.1467G>T	NP_001070833.1:p.Glu489Asp
NM_001077366.1:c.1305G>T	NP_001070834.1:p.Glu435Asp
NM_001136113.1:c.1467G>T	NP_001129585.1:p.Glu489Asp
NM_001136114.1:c.1116G>T	NP_001129586.1:p.Glu372Asp
NM_007171.3:c.1533G>T	NP_009102.3:p.Glu511Asp
XM_005272156.1:c.1533G>T	XP_005272213.1:p.Glu511Asp
XM_005272158.1:c.1371G>T	XP_005272215.1:p.Glu457Asp
XM_005272159.1:c.1182G>T	XP_005272216.1:p.Glu394Asp
XM_005272162.1:c.336G>T	XP_005272219.1:p.Glu112Asp
XM_006716932.1:c.1182G>T	XP_006716995.1:p.Glu394Asp
XM_011518140.1:c.1386G>T	XP_011516442.1:p.Glu462Asp
XM_011518141.1:c.1320G>T	XP_011516443.1:p.Glu440Asp
XM_011518142.1:c.1224G>T	XP_011516444.1:p.Glu408Asp
XM_011518143.1:c.1218G>T	XP_011516445.1:p.Glu406Asp
XM_011518145.1:c.1077G>T	XP_011516447.1:p.Glu359Asp
XM_011518147.1:c.405G>T	XP_011516449.1:p.Glu135Asp
XR_929703.1:n.1709G>T
NM_001353193.1:c.1533G>T	NP_001340122.1:p.Glu511Asp
NM_001353194.1:c.1305G>T	NP_001340123.1:p.Glu435Asp
NM_001353195.1:c.1116G>T	NP_001340124.1:p.Glu372Asp
NM_001353196.1:c.1377G>T	NP_001340125.1:p.Glu459Asp
NM_001353197.1:c.1371G>T	NP_001340126.1:p.Glu457Asp
NM_001353198.1:c.1371G>T	NP_001340127.1:p.Glu457Asp
NM_001353199.1:c.1182G>T	NP_001340128.1:p.Glu394Asp
NM_001353200.1:c.1011G>T	NP_001340129.1:p.Glu337Asp
NR_148391.1:n.1517G>T
NR_148392.1:n.1735G>T
NR_148393.1:n.1656G>T
NR_148394.1:n.1410G>T
NR_148395.1:n.1808G>T
NR_148396.1:n.1442G>T
NR_148397.1:n.1567G>T
NR_148398.1:n.1522G>T
NR_148399.1:n.2048G>T
NR_148400.1:n.1647G>T
XM_005272162.3:c.336G>T	XP_005272219.1:p.Glu112Asp
XM_006716932.2:c.1182G>T	XP_006716995.1:p.Glu394Asp
XM_011518140.2:c.1386G>T	XP_011516442.1:p.Glu462Asp
XM_011518141.2:c.1320G>T	XP_011516443.1:p.Glu440Asp
XM_011518142.2:c.1224G>T	XP_011516444.1:p.Glu408Asp
XM_011518143.2:c.1218G>T	XP_011516445.1:p.Glu406Asp
XM_011518145.2:c.1077G>T	XP_011516447.1:p.Glu359Asp
XM_017014205.2:c.336G>T	XP_016869694.1:p.Glu112Asp
XM_024447380.1:c.336G>T	XP_024303148.1:p.Glu112Asp
XM_024447381.1:c.642G>T	XP_024303149.1:p.Glu214Asp
XM_024447382.1:c.336G>T	XP_024303150.1:p.Glu112Asp
XR_001746160.2:n.1637G>T
XR_001746162.2:n.1842G>T
XR_001746164.1:n.1559G>T
XR_001746166.2:n.1854G>T
NM_001077365.2:c.1467G>T MANE Select	NP_001070833.1:p.Glu489Asp
NM_001077366.2:c.1305G>T	NP_001070834.1:p.Glu435Asp
NM_001136113.2:c.1467G>T	NP_001129585.1:p.Glu489Asp
NM_001136114.2:c.1116G>T	NP_001129586.1:p.Glu372Asp
NM_001353193.2:c.1533G>T	NP_001340122.2:p.Glu511Asp
NM_001353194.2:c.1305G>T	NP_001340123.1:p.Glu435Asp
NM_001353195.2:c.1116G>T	NP_001340124.1:p.Glu372Asp
NM_001353196.2:c.1377G>T	NP_001340125.1:p.Glu459Asp
NM_001353197.2:c.1371G>T	NP_001340126.2:p.Glu457Asp
NM_001353198.2:c.1371G>T	NP_001340127.2:p.Glu457Asp
NM_001353199.2:c.1182G>T	NP_001340128.2:p.Glu394Asp
NM_001353200.2:c.1011G>T	NP_001340129.1:p.Glu337Asp
NM_001374689.1:c.1455G>T	NP_001361618.1:p.Glu485Asp
NM_001374690.1:c.1365+401G>T	NP_001361619.1:n.1365+401G>T
NM_001374691.1:c.1116G>T	NP_001361620.1:p.Glu372Asp
NM_001374692.1:c.1116G>T	NP_001361621.1:p.Glu372Asp
NM_001374693.1:c.1116G>T	NP_001361622.1:p.Glu372Asp
NM_001374695.1:c.1077G>T	NP_001361624.1:p.Glu359Asp
NM_007171.4:c.1533G>T	NP_009102.4:p.Glu511Asp
NR_148391.2:n.1501G>T
NR_148392.2:n.1719G>T
NR_148393.2:n.1640G>T
NR_148394.2:n.1394G>T
NR_148395.2:n.1792G>T
NR_148396.2:n.1426G>T
NR_148397.2:n.1551G>T
NR_148398.2:n.1506G>T
NR_148399.2:n.2032G>T
NR_148400.2:n.1631G>T