Canonical Allele Identifier: CA375312130

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134394336A>C (hg19) ; chr9:g.131518949A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1316A>C	ENSP00000343034.7:p.Tyr439Ser
ENST00000404875.7:n.2018A>C
ENST00000423007.6:c.1535A>C	ENSP00000404119.2:p.Tyr512Ser
ENST00000677295.2:c.*1822A>C	ENSP00000504346.2:n.*1822A>C
ENST00000678264.2:c.*1661A>C	ENSP00000503157.2:n.*1661A>C
ENST00000682070.1:n.1943A>C
ENST00000682539.1:c.416A>C
ENST00000682813.1:n.1882A>C
ENST00000683392.1:n.4225A>C
ENST00000683712.1:n.1883A>C
ENST00000683900.1:n.3378A>C
ENST00000684062.1:n.2144A>C
ENST00000684579.1:n.3324A>C
ENST00000684679.1:n.705A>C
ENST00000341012.12:c.1316A>C	ENSP00000343034.7:p.Tyr439Ser
ENST00000372220.5:c.347A>C	ENSP00000361294.5:p.Tyr116Ser
ENST00000372228.9:c.1544A>C	ENSP00000361302.3:p.Tyr515Ser
ENST00000402686.8:c.1478A>C MANE Select	ENSP00000385797.4:p.Tyr493Ser
ENST00000676640.1:c.1478A>C	ENSP00000503281.1:p.Tyr493Ser
ENST00000676803.1:c.653A>C	ENSP00000503093.1:p.Tyr218Ser
ENST00000676835.1:c.*693A>C	ENSP00000502911.1:n.*693A>C
ENST00000677029.1:c.1022A>C	ENSP00000502936.1:p.Tyr341Ser
ENST00000677099.1:c.*1188A>C	ENSP00000504553.1:n.*1188A>C
ENST00000677216.1:c.1127A>C	ENSP00000503772.1:p.Tyr376Ser
ENST00000677221.1:n.503A>C
ENST00000677295.1:c.*855A>C	ENSP00000504346.1:n.*855A>C
ENST00000677444.1:c.1423A>C
ENST00000677586.1:n.959A>C
ENST00000677626.1:c.1127A>C	ENSP00000503552.1:p.Tyr376Ser
ENST00000677677.1:n.1438A>C
ENST00000677853.1:c.*486A>C	ENSP00000503488.1:n.*486A>C
ENST00000678202.1:n.637A>C
ENST00000678264.1:c.*855A>C	ENSP00000503157.1:n.*855A>C
ENST00000678303.1:c.1388A>C	ENSP00000503696.1:p.Tyr463Ser
ENST00000678366.1:c.*1727A>C	ENSP00000504353.1:n.*1727A>C
ENST00000678546.1:c.*1423A>C	ENSP00000503062.1:n.*1423A>C
ENST00000678548.1:c.*1550A>C	ENSP00000503934.1:n.*1550A>C
ENST00000678626.1:n.1314A>C
ENST00000678733.1:c.559A>C
ENST00000678739.1:c.*1804A>C	ENSP00000503806.1:n.*1804A>C
ENST00000678833.1:c.*925A>C	ENSP00000503893.1:n.*925A>C
ENST00000679023.1:c.1316A>C	ENSP00000503718.1:p.Tyr439Ser
ENST00000679076.1:c.1097A>C
ENST00000679111.1:c.*234A>C	ENSP00000504257.1:n.*234A>C
ENST00000679189.1:c.1127A>C	ENSP00000503356.1:p.Tyr376Ser
ENST00000341012.11:c.1316A>C	ENSP00000343034.7:p.Tyr439Ser
ENST00000372220.4:c.341A>C	ENSP00000361294.4:p.Tyr114Ser
ENST00000372228.7:c.1544A>C	ENSP00000361302.3:p.Tyr515Ser
ENST00000402686.7:c.1478A>C	ENSP00000385797.3:p.Tyr493Ser
ENST00000404875.6:c.1127A>C	ENSP00000384531.2:p.Tyr376Ser
ENST00000423007.5:c.1478A>C	ENSP00000404119.1:p.Tyr493Ser
ENST00000467848.1:n.182A>C
ENST00000485278.5:n.2033A>C
NM_001077365.1:c.1478A>C	NP_001070833.1:p.Tyr493Ser
NM_001077366.1:c.1316A>C	NP_001070834.1:p.Tyr439Ser
NM_001136113.1:c.1478A>C	NP_001129585.1:p.Tyr493Ser
NM_001136114.1:c.1127A>C	NP_001129586.1:p.Tyr376Ser
NM_007171.3:c.1544A>C	NP_009102.3:p.Tyr515Ser
XM_005272156.1:c.1544A>C	XP_005272213.1:p.Tyr515Ser
XM_005272158.1:c.1382A>C	XP_005272215.1:p.Tyr461Ser
XM_005272159.1:c.1193A>C	XP_005272216.1:p.Tyr398Ser
XM_005272162.1:c.347A>C	XP_005272219.1:p.Tyr116Ser
XM_006716932.1:c.1193A>C	XP_006716995.1:p.Tyr398Ser
XM_011518140.1:c.1397A>C	XP_011516442.1:p.Tyr466Ser
XM_011518141.1:c.1331A>C	XP_011516443.1:p.Tyr444Ser
XM_011518142.1:c.1235A>C	XP_011516444.1:p.Tyr412Ser
XM_011518143.1:c.1229A>C	XP_011516445.1:p.Tyr410Ser
XM_011518145.1:c.1088A>C	XP_011516447.1:p.Tyr363Ser
XM_011518147.1:c.416A>C	XP_011516449.1:p.Tyr139Ser
XR_929703.1:n.1720A>C
NM_001353193.1:c.1544A>C	NP_001340122.1:p.Tyr515Ser
NM_001353194.1:c.1316A>C	NP_001340123.1:p.Tyr439Ser
NM_001353195.1:c.1127A>C	NP_001340124.1:p.Tyr376Ser
NM_001353196.1:c.1388A>C	NP_001340125.1:p.Tyr463Ser
NM_001353197.1:c.1382A>C	NP_001340126.1:p.Tyr461Ser
NM_001353198.1:c.1382A>C	NP_001340127.1:p.Tyr461Ser
NM_001353199.1:c.1193A>C	NP_001340128.1:p.Tyr398Ser
NM_001353200.1:c.1022A>C	NP_001340129.1:p.Tyr341Ser
NR_148391.1:n.1528A>C
NR_148392.1:n.1746A>C
NR_148393.1:n.1667A>C
NR_148394.1:n.1421A>C
NR_148395.1:n.1819A>C
NR_148396.1:n.1453A>C
NR_148397.1:n.1578A>C
NR_148398.1:n.1533A>C
NR_148399.1:n.2059A>C
NR_148400.1:n.1658A>C
XM_005272162.3:c.347A>C	XP_005272219.1:p.Tyr116Ser
XM_006716932.2:c.1193A>C	XP_006716995.1:p.Tyr398Ser
XM_011518140.2:c.1397A>C	XP_011516442.1:p.Tyr466Ser
XM_011518141.2:c.1331A>C	XP_011516443.1:p.Tyr444Ser
XM_011518142.2:c.1235A>C	XP_011516444.1:p.Tyr412Ser
XM_011518143.2:c.1229A>C	XP_011516445.1:p.Tyr410Ser
XM_011518145.2:c.1088A>C	XP_011516447.1:p.Tyr363Ser
XM_017014205.2:c.347A>C	XP_016869694.1:p.Tyr116Ser
XM_024447380.1:c.347A>C	XP_024303148.1:p.Tyr116Ser
XM_024447381.1:c.653A>C	XP_024303149.1:p.Tyr218Ser
XM_024447382.1:c.347A>C	XP_024303150.1:p.Tyr116Ser
XR_001746160.2:n.1648A>C
XR_001746162.2:n.1853A>C
XR_001746164.1:n.1570A>C
XR_001746166.2:n.1865A>C
NM_001077365.2:c.1478A>C MANE Select	NP_001070833.1:p.Tyr493Ser
NM_001077366.2:c.1316A>C	NP_001070834.1:p.Tyr439Ser
NM_001136113.2:c.1478A>C	NP_001129585.1:p.Tyr493Ser
NM_001136114.2:c.1127A>C	NP_001129586.1:p.Tyr376Ser
NM_001353193.2:c.1544A>C	NP_001340122.2:p.Tyr515Ser
NM_001353194.2:c.1316A>C	NP_001340123.1:p.Tyr439Ser
NM_001353195.2:c.1127A>C	NP_001340124.1:p.Tyr376Ser
NM_001353196.2:c.1388A>C	NP_001340125.1:p.Tyr463Ser
NM_001353197.2:c.1382A>C	NP_001340126.2:p.Tyr461Ser
NM_001353198.2:c.1382A>C	NP_001340127.2:p.Tyr461Ser
NM_001353199.2:c.1193A>C	NP_001340128.2:p.Tyr398Ser
NM_001353200.2:c.1022A>C	NP_001340129.1:p.Tyr341Ser
NM_001374689.1:c.1466A>C	NP_001361618.1:p.Tyr489Ser
NM_001374690.1:c.1365+412A>C	NP_001361619.1:n.1365+412A>C
NM_001374691.1:c.1127A>C	NP_001361620.1:p.Tyr376Ser
NM_001374692.1:c.1127A>C	NP_001361621.1:p.Tyr376Ser
NM_001374693.1:c.1127A>C	NP_001361622.1:p.Tyr376Ser
NM_001374695.1:c.1088A>C	NP_001361624.1:p.Tyr363Ser
NM_007171.4:c.1544A>C	NP_009102.4:p.Tyr515Ser
NR_148391.2:n.1512A>C
NR_148392.2:n.1730A>C
NR_148393.2:n.1651A>C
NR_148394.2:n.1405A>C
NR_148395.2:n.1803A>C
NR_148396.2:n.1437A>C
NR_148397.2:n.1562A>C
NR_148398.2:n.1517A>C
NR_148399.2:n.2043A>C
NR_148400.2:n.1642A>C