Canonical Allele Identifier: CA1881752506

Gene: POMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518858G= , CM000671.2:g.131518858G=	GRCh38
NC_000009.11:g.134394245G= , CM000671.1:g.134394245G=	GRCh37
NC_000009.10:g.133384066G=	NCBI36
NG_008896.1:g.20957G=
NG_008896.2:g.20957G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1225G=	ENSP00000343034.7:p.Asp409=
ENST00000404875.7:n.1927G=
ENST00000423007.6:c.1444G=	ENSP00000404119.2:p.Asp482=
ENST00000677295.2:c.*1731G=	ENSP00000504346.2:n.*1731G=
ENST00000678264.2:c.*1570G=	ENSP00000503157.2:n.*1570G=
ENST00000682070.1:n.1852G=
ENST00000682539.1:c.325G=
ENST00000682813.1:n.1791G=
ENST00000683392.1:n.4134G=
ENST00000683712.1:n.1792G=
ENST00000683900.1:n.3287G=
ENST00000684062.1:n.2053G=
ENST00000684579.1:n.3233G=
ENST00000684679.1:n.614G=
ENST00000341012.12:c.1225G=	ENSP00000343034.7:p.Asp409=
ENST00000372220.5:c.256G=	ENSP00000361294.5:p.Asp86=
ENST00000372228.9:c.1453G=	ENSP00000361302.3:p.Asp485=
ENST00000402686.8:c.1387G= MANE Select	ENSP00000385797.4:p.Asp463=
ENST00000676640.1:c.1387G=	ENSP00000503281.1:p.Asp463=
ENST00000676803.1:c.562G=	ENSP00000503093.1:p.Asp188=
ENST00000676835.1:c.*602G=	ENSP00000502911.1:n.*602G=
ENST00000677029.1:c.931G=	ENSP00000502936.1:p.Asp311=
ENST00000677099.1:c.*1097G=	ENSP00000504553.1:n.*1097G=
ENST00000677216.1:c.1036G=	ENSP00000503772.1:p.Asp346=
ENST00000677221.1:n.412G=
ENST00000677295.1:c.*764G=	ENSP00000504346.1:n.*764G=
ENST00000677444.1:c.1332G=
ENST00000677586.1:n.868G=
ENST00000677626.1:c.1036G=	ENSP00000503552.1:p.Asp346=
ENST00000677677.1:n.1347G=
ENST00000677853.1:c.*395G=	ENSP00000503488.1:n.*395G=
ENST00000678202.1:n.546G=
ENST00000678264.1:c.*764G=	ENSP00000503157.1:n.*764G=
ENST00000678303.1:c.1297G=	ENSP00000503696.1:p.Asp433=
ENST00000678366.1:c.*1636G=	ENSP00000504353.1:n.*1636G=
ENST00000678546.1:c.*1332G=	ENSP00000503062.1:n.*1332G=
ENST00000678548.1:c.*1459G=	ENSP00000503934.1:n.*1459G=
ENST00000678626.1:n.1223G=
ENST00000678733.1:c.468G=
ENST00000678739.1:c.*1713G=	ENSP00000503806.1:n.*1713G=
ENST00000678833.1:c.*834G=	ENSP00000503893.1:n.*834G=
ENST00000679023.1:c.1225G=	ENSP00000503718.1:p.Asp409=
ENST00000679076.1:c.1006G=
ENST00000679111.1:c.*143G=	ENSP00000504257.1:n.*143G=
ENST00000679189.1:c.1036G=	ENSP00000503356.1:p.Asp346=
ENST00000341012.11:c.1225G=	ENSP00000343034.7:p.Asp409=
ENST00000372220.4:c.250G=	ENSP00000361294.4:p.Asp84=
ENST00000372228.7:c.1453G=	ENSP00000361302.3:p.Asp485=
ENST00000402686.7:c.1387G=	ENSP00000385797.3:p.Asp463=
ENST00000404875.6:c.1036G=	ENSP00000384531.2:p.Asp346=
ENST00000423007.5:c.1387G=	ENSP00000404119.1:p.Asp463=
ENST00000467848.1:n.91G=
ENST00000485278.5:n.1942G=
NM_001077365.1:c.1387G=	NP_001070833.1:p.Asp463=
NM_001077366.1:c.1225G=	NP_001070834.1:p.Asp409=
NM_001136113.1:c.1387G=	NP_001129585.1:p.Asp463=
NM_001136114.1:c.1036G=	NP_001129586.1:p.Asp346=
NM_007171.3:c.1453G=	NP_009102.3:p.Asp485=
XM_005272156.1:c.1453G=	XP_005272213.1:p.Asp485=
XM_005272158.1:c.1291G=	XP_005272215.1:p.Asp431=
XM_005272159.1:c.1102G=	XP_005272216.1:p.Asp368=
XM_005272162.1:c.256G=	XP_005272219.1:p.Asp86=
XM_006716932.1:c.1102G=	XP_006716995.1:p.Asp368=
XM_011518140.1:c.1306G=	XP_011516442.1:p.Asp436=
XM_011518141.1:c.1240G=	XP_011516443.1:p.Asp414=
XM_011518142.1:c.1144G=	XP_011516444.1:p.Asp382=
XM_011518143.1:c.1138G=	XP_011516445.1:p.Asp380=
XM_011518144.1:c.*143G=	XP_011516446.1:n.*143G=
XM_011518145.1:c.997G=	XP_011516447.1:p.Asp333=
XM_011518146.1:c.*143G=	XP_011516448.1:n.*143G=
XM_011518147.1:c.325G=	XP_011516449.1:p.Asp109=
XR_929703.1:n.1629G=
NM_001353193.1:c.1453G=	NP_001340122.1:p.Asp485=
NM_001353194.1:c.1225G=	NP_001340123.1:p.Asp409=
NM_001353195.1:c.1036G=	NP_001340124.1:p.Asp346=
NM_001353196.1:c.1297G=	NP_001340125.1:p.Asp433=
NM_001353197.1:c.1291G=	NP_001340126.1:p.Asp431=
NM_001353198.1:c.1291G=	NP_001340127.1:p.Asp431=
NM_001353199.1:c.1102G=	NP_001340128.1:p.Asp368=
NM_001353200.1:c.931G=	NP_001340129.1:p.Asp311=
NR_148391.1:n.1437G=
NR_148392.1:n.1655G=
NR_148393.1:n.1576G=
NR_148394.1:n.1330G=
NR_148395.1:n.1728G=
NR_148396.1:n.1362G=
NR_148397.1:n.1487G=
NR_148398.1:n.1442G=
NR_148399.1:n.1968G=
NR_148400.1:n.1567G=
XM_005272162.3:c.256G=	XP_005272219.1:p.Asp86=
XM_006716932.2:c.1102G=	XP_006716995.1:p.Asp368=
XM_011518140.2:c.1306G=	XP_011516442.1:p.Asp436=
XM_011518141.2:c.1240G=	XP_011516443.1:p.Asp414=
XM_011518142.2:c.1144G=	XP_011516444.1:p.Asp382=
XM_011518143.2:c.1138G=	XP_011516445.1:p.Asp380=
XM_011518145.2:c.997G=	XP_011516447.1:p.Asp333=
XM_017014205.2:c.256G=	XP_016869694.1:p.Asp86=
XM_024447380.1:c.256G=	XP_024303148.1:p.Asp86=
XM_024447381.1:c.562G=	XP_024303149.1:p.Asp188=
XM_024447382.1:c.256G=	XP_024303150.1:p.Asp86=
XR_001746160.2:n.1557G=
XR_001746162.2:n.1762G=
XR_001746164.1:n.1479G=
XR_001746166.2:n.1774G=
NM_001077365.2:c.1387G= MANE Select	NP_001070833.1:p.Asp463=
NM_001077366.2:c.1225G=	NP_001070834.1:p.Asp409=
NM_001136113.2:c.1387G=	NP_001129585.1:p.Asp463=
NM_001136114.2:c.1036G=	NP_001129586.1:p.Asp346=
NM_001353193.2:c.1453G=	NP_001340122.2:p.Asp485=
NM_001353194.2:c.1225G=	NP_001340123.1:p.Asp409=
NM_001353195.2:c.1036G=	NP_001340124.1:p.Asp346=
NM_001353196.2:c.1297G=	NP_001340125.1:p.Asp433=
NM_001353197.2:c.1291G=	NP_001340126.2:p.Asp431=
NM_001353198.2:c.1291G=	NP_001340127.2:p.Asp431=
NM_001353199.2:c.1102G=	NP_001340128.2:p.Asp368=
NM_001353200.2:c.931G=	NP_001340129.1:p.Asp311=
NM_001374689.1:c.1375G=	NP_001361618.1:p.Asp459=
NM_001374690.1:c.1365+321G=	NP_001361619.1:n.1365+321G=
NM_001374691.1:c.1036G=	NP_001361620.1:p.Asp346=
NM_001374692.1:c.1036G=	NP_001361621.1:p.Asp346=
NM_001374693.1:c.1036G=	NP_001361622.1:p.Asp346=
NM_001374695.1:c.997G=	NP_001361624.1:p.Asp333=
NM_007171.4:c.1453G=	NP_009102.4:p.Asp485=
NR_148391.2:n.1421G=
NR_148392.2:n.1639G=
NR_148393.2:n.1560G=
NR_148394.2:n.1314G=
NR_148395.2:n.1712G=
NR_148396.2:n.1346G=
NR_148397.2:n.1471G=
NR_148398.2:n.1426G=
NR_148399.2:n.1952G=
NR_148400.2:n.1551G=