Canonical Allele Identifier: CA3165530920

Gene: POMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518949A= , CM000671.2:g.131518949A=	GRCh38
NC_000009.11:g.134394336A= , CM000671.1:g.134394336A=	GRCh37
NC_000009.10:g.133384157A=	NCBI36
NG_008896.1:g.21048A=
NG_008896.2:g.21048A=

Transcript Alleles

HGVS	Amino-acid Change
NM_001077365.2:c.1478A= MANE Select	NP_001070833.1:p.Tyr493=
ENST00000402686.8:c.1478A= MANE Select	ENSP00000385797.4:p.Tyr493=
NM_001077365.1:c.1478A=	NP_001070833.1:p.Tyr493=
NM_001077366.1:c.1316A=	NP_001070834.1:p.Tyr439=
NM_001077366.2:c.1316A=	NP_001070834.1:p.Tyr439=
NM_001136113.1:c.1478A=	NP_001129585.1:p.Tyr493=
NM_001136113.2:c.1478A=	NP_001129585.1:p.Tyr493=
NM_001136114.1:c.1127A=	NP_001129586.1:p.Tyr376=
NM_001136114.2:c.1127A=	NP_001129586.1:p.Tyr376=
NM_001353193.1:c.1544A=	NP_001340122.1:p.Tyr515=
NM_001353193.2:c.1544A=	NP_001340122.2:p.Tyr515=
NM_001353194.1:c.1316A=	NP_001340123.1:p.Tyr439=
NM_001353194.2:c.1316A=	NP_001340123.1:p.Tyr439=
NM_001353195.1:c.1127A=	NP_001340124.1:p.Tyr376=
NM_001353195.2:c.1127A=	NP_001340124.1:p.Tyr376=
NM_001353196.1:c.1388A=	NP_001340125.1:p.Tyr463=
NM_001353196.2:c.1388A=	NP_001340125.1:p.Tyr463=
NM_001353197.1:c.1382A=	NP_001340126.1:p.Tyr461=
NM_001353197.2:c.1382A=	NP_001340126.2:p.Tyr461=
NM_001353198.1:c.1382A=	NP_001340127.1:p.Tyr461=
NM_001353198.2:c.1382A=	NP_001340127.2:p.Tyr461=
NM_001353199.1:c.1193A=	NP_001340128.1:p.Tyr398=
NM_001353199.2:c.1193A=	NP_001340128.2:p.Tyr398=
NM_001353200.1:c.1022A=	NP_001340129.1:p.Tyr341=
NM_001353200.2:c.1022A=	NP_001340129.1:p.Tyr341=
NM_001374689.1:c.1466A=	NP_001361618.1:p.Tyr489=
NM_001374690.1:c.1365+412A=	NP_001361619.1:n.1365+412A=
NM_001374691.1:c.1127A=	NP_001361620.1:p.Tyr376=
NM_001374692.1:c.1127A=	NP_001361621.1:p.Tyr376=
NM_001374693.1:c.1127A=	NP_001361622.1:p.Tyr376=
NM_001374695.1:c.1088A=	NP_001361624.1:p.Tyr363=
NM_007171.3:c.1544A=	NP_009102.3:p.Tyr515=
NM_007171.4:c.1544A=	NP_009102.4:p.Tyr515=
NR_148391.1:n.1528A=
NR_148391.2:n.1512A=
NR_148392.1:n.1746A=
NR_148392.2:n.1730A=
NR_148393.1:n.1667A=
NR_148393.2:n.1651A=
NR_148394.1:n.1421A=
NR_148394.2:n.1405A=
NR_148395.1:n.1819A=
NR_148395.2:n.1803A=
NR_148396.1:n.1453A=
NR_148396.2:n.1437A=
NR_148397.1:n.1578A=
NR_148397.2:n.1562A=
NR_148398.1:n.1533A=
NR_148398.2:n.1517A=
NR_148399.1:n.2059A=
NR_148399.2:n.2043A=
NR_148400.1:n.1658A=
NR_148400.2:n.1642A=
ENST00000341012.11:c.1316A=	ENSP00000343034.7:p.Tyr439=
ENST00000341012.12:c.1316A=	ENSP00000343034.7:p.Tyr439=
ENST00000341012.13:c.1316A=	ENSP00000343034.7:p.Tyr439=
ENST00000372220.4:c.341A=	ENSP00000361294.4:p.Tyr114=
ENST00000372220.5:c.347A=	ENSP00000361294.5:p.Tyr116=
ENST00000372228.7:c.1544A=	ENSP00000361302.3:p.Tyr515=
ENST00000372228.9:c.1544A=	ENSP00000361302.3:p.Tyr515=
ENST00000402686.7:c.1478A=	ENSP00000385797.3:p.Tyr493=
ENST00000404875.6:c.1127A=	ENSP00000384531.2:p.Tyr376=
ENST00000404875.7:n.2018A=
ENST00000423007.5:c.1478A=	ENSP00000404119.1:p.Tyr493=
ENST00000423007.6:c.1535A=	ENSP00000404119.2:p.Tyr512=
ENST00000467848.1:n.182A=
ENST00000485278.5:n.2033A=
ENST00000676640.1:c.1478A=	ENSP00000503281.1:p.Tyr493=
ENST00000676803.1:c.653A=	ENSP00000503093.1:p.Tyr218=
ENST00000676835.1:c.*693A=	ENSP00000502911.1:n.*693A=
ENST00000677029.1:c.1022A=	ENSP00000502936.1:p.Tyr341=
ENST00000677099.1:c.*1188A=	ENSP00000504553.1:n.*1188A=
ENST00000677216.1:c.1127A=	ENSP00000503772.1:p.Tyr376=
ENST00000677221.1:n.503A=
ENST00000677295.1:c.*855A=	ENSP00000504346.1:n.*855A=
ENST00000677295.2:c.*1822A=	ENSP00000504346.2:n.*1822A=
ENST00000677444.1:c.1423A=
ENST00000677586.1:n.959A=
ENST00000677626.1:c.1127A=	ENSP00000503552.1:p.Tyr376=
ENST00000677677.1:n.1438A=
ENST00000677853.1:c.*486A=	ENSP00000503488.1:n.*486A=
ENST00000678202.1:n.637A=
ENST00000678264.1:c.*855A=	ENSP00000503157.1:n.*855A=
ENST00000678264.2:c.*1661A=	ENSP00000503157.2:n.*1661A=
ENST00000678303.1:c.1388A=	ENSP00000503696.1:p.Tyr463=
ENST00000678366.1:c.*1727A=	ENSP00000504353.1:n.*1727A=
ENST00000678546.1:c.*1423A=	ENSP00000503062.1:n.*1423A=
ENST00000678548.1:c.*1550A=	ENSP00000503934.1:n.*1550A=
ENST00000678626.1:n.1314A=
ENST00000678733.1:c.559A=
ENST00000678739.1:c.*1804A=	ENSP00000503806.1:n.*1804A=
ENST00000678833.1:c.*925A=	ENSP00000503893.1:n.*925A=
ENST00000679023.1:c.1316A=	ENSP00000503718.1:p.Tyr439=
ENST00000679076.1:c.1097A=
ENST00000679111.1:c.*234A=	ENSP00000504257.1:n.*234A=
ENST00000679189.1:c.1127A=	ENSP00000503356.1:p.Tyr376=
ENST00000682070.1:n.1943A=
ENST00000682539.1:c.416A=
ENST00000682813.1:n.1882A=
ENST00000683392.1:n.4225A=
ENST00000683712.1:n.1883A=
ENST00000683900.1:n.3378A=
ENST00000684062.1:n.2144A=
ENST00000684579.1:n.3324A=
ENST00000684679.1:n.705A=
XM_005272156.1:c.1544A=	XP_005272213.1:p.Tyr515=
XM_005272158.1:c.1382A=	XP_005272215.1:p.Tyr461=
XM_005272159.1:c.1193A=	XP_005272216.1:p.Tyr398=
XM_005272162.1:c.347A=	XP_005272219.1:p.Tyr116=
XM_005272162.3:c.347A=	XP_005272219.1:p.Tyr116=
XM_006716932.1:c.1193A=	XP_006716995.1:p.Tyr398=
XM_006716932.2:c.1193A=	XP_006716995.1:p.Tyr398=
XM_011518140.1:c.1397A=	XP_011516442.1:p.Tyr466=
XM_011518140.2:c.1397A=	XP_011516442.1:p.Tyr466=
XM_011518141.1:c.1331A=	XP_011516443.1:p.Tyr444=
XM_011518141.2:c.1331A=	XP_011516443.1:p.Tyr444=
XM_011518142.1:c.1235A=	XP_011516444.1:p.Tyr412=
XM_011518142.2:c.1235A=	XP_011516444.1:p.Tyr412=
XM_011518143.1:c.1229A=	XP_011516445.1:p.Tyr410=
XM_011518143.2:c.1229A=	XP_011516445.1:p.Tyr410=
XM_011518145.1:c.1088A=	XP_011516447.1:p.Tyr363=
XM_011518145.2:c.1088A=	XP_011516447.1:p.Tyr363=
XM_011518147.1:c.416A=	XP_011516449.1:p.Tyr139=
XM_017014205.2:c.347A=	XP_016869694.1:p.Tyr116=
XM_024447380.1:c.347A=	XP_024303148.1:p.Tyr116=
XM_024447381.1:c.653A=	XP_024303149.1:p.Tyr218=
XM_024447382.1:c.347A=	XP_024303150.1:p.Tyr116=
XR_001746160.2:n.1648A=
XR_001746162.2:n.1853A=
XR_001746164.1:n.1570A=
XR_001746166.2:n.1865A=
XR_929703.1:n.1720A=