Canonical Allele Identifier: CA467423534

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134394322G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518935G>T , CM000671.2:g.131518935G>T	GRCh38
NC_000009.11:g.134394322G>T , CM000671.1:g.134394322G>T	GRCh37
NC_000009.10:g.133384143G>T	NCBI36
NG_008896.1:g.21034G>T
NG_008896.2:g.21034G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1302G>T	ENSP00000343034.7:p.Val434=
ENST00000404875.7:n.2004G>T
ENST00000423007.6:c.1521G>T	ENSP00000404119.2:p.Val507=
ENST00000677295.2:c.*1808G>T	ENSP00000504346.2:n.*1808G>T
ENST00000678264.2:c.*1647G>T	ENSP00000503157.2:n.*1647G>T
ENST00000682070.1:n.1929G>T
ENST00000682539.1:c.402G>T
ENST00000682813.1:n.1868G>T
ENST00000683392.1:n.4211G>T
ENST00000683712.1:n.1869G>T
ENST00000683900.1:n.3364G>T
ENST00000684062.1:n.2130G>T
ENST00000684579.1:n.3310G>T
ENST00000684679.1:n.691G>T
ENST00000341012.12:c.1302G>T	ENSP00000343034.7:p.Val434=
ENST00000372220.5:c.333G>T	ENSP00000361294.5:p.Val111=
ENST00000372228.9:c.1530G>T	ENSP00000361302.3:p.Val510=
ENST00000402686.8:c.1464G>T MANE Select	ENSP00000385797.4:p.Val488=
ENST00000676640.1:c.1464G>T	ENSP00000503281.1:p.Val488=
ENST00000676803.1:c.639G>T	ENSP00000503093.1:p.Val213=
ENST00000676835.1:c.*679G>T	ENSP00000502911.1:n.*679G>T
ENST00000677029.1:c.1008G>T	ENSP00000502936.1:p.Val336=
ENST00000677099.1:c.*1174G>T	ENSP00000504553.1:n.*1174G>T
ENST00000677216.1:c.1113G>T	ENSP00000503772.1:p.Val371=
ENST00000677221.1:n.489G>T
ENST00000677295.1:c.*841G>T	ENSP00000504346.1:n.*841G>T
ENST00000677444.1:c.1409G>T
ENST00000677586.1:n.945G>T
ENST00000677626.1:c.1113G>T	ENSP00000503552.1:p.Val371=
ENST00000677677.1:n.1424G>T
ENST00000677853.1:c.*472G>T	ENSP00000503488.1:n.*472G>T
ENST00000678202.1:n.623G>T
ENST00000678264.1:c.*841G>T	ENSP00000503157.1:n.*841G>T
ENST00000678303.1:c.1374G>T	ENSP00000503696.1:p.Val458=
ENST00000678366.1:c.*1713G>T	ENSP00000504353.1:n.*1713G>T
ENST00000678546.1:c.*1409G>T	ENSP00000503062.1:n.*1409G>T
ENST00000678548.1:c.*1536G>T	ENSP00000503934.1:n.*1536G>T
ENST00000678626.1:n.1300G>T
ENST00000678733.1:c.545G>T
ENST00000678739.1:c.*1790G>T	ENSP00000503806.1:n.*1790G>T
ENST00000678833.1:c.*911G>T	ENSP00000503893.1:n.*911G>T
ENST00000679023.1:c.1302G>T	ENSP00000503718.1:p.Val434=
ENST00000679076.1:c.1083G>T
ENST00000679111.1:c.*220G>T	ENSP00000504257.1:n.*220G>T
ENST00000679189.1:c.1113G>T	ENSP00000503356.1:p.Val371=
ENST00000341012.11:c.1302G>T	ENSP00000343034.7:p.Val434=
ENST00000372220.4:c.327G>T	ENSP00000361294.4:p.Val109=
ENST00000372228.7:c.1530G>T	ENSP00000361302.3:p.Val510=
ENST00000402686.7:c.1464G>T	ENSP00000385797.3:p.Val488=
ENST00000404875.6:c.1113G>T	ENSP00000384531.2:p.Val371=
ENST00000423007.5:c.1464G>T	ENSP00000404119.1:p.Val488=
ENST00000467848.1:n.168G>T
ENST00000485278.5:n.2019G>T
NM_001077365.1:c.1464G>T	NP_001070833.1:p.Val488=
NM_001077366.1:c.1302G>T	NP_001070834.1:p.Val434=
NM_001136113.1:c.1464G>T	NP_001129585.1:p.Val488=
NM_001136114.1:c.1113G>T	NP_001129586.1:p.Val371=
NM_007171.3:c.1530G>T	NP_009102.3:p.Val510=
XM_005272156.1:c.1530G>T	XP_005272213.1:p.Val510=
XM_005272158.1:c.1368G>T	XP_005272215.1:p.Val456=
XM_005272159.1:c.1179G>T	XP_005272216.1:p.Val393=
XM_005272162.1:c.333G>T	XP_005272219.1:p.Val111=
XM_006716932.1:c.1179G>T	XP_006716995.1:p.Val393=
XM_011518140.1:c.1383G>T	XP_011516442.1:p.Val461=
XM_011518141.1:c.1317G>T	XP_011516443.1:p.Val439=
XM_011518142.1:c.1221G>T	XP_011516444.1:p.Val407=
XM_011518143.1:c.1215G>T	XP_011516445.1:p.Val405=
XM_011518145.1:c.1074G>T	XP_011516447.1:p.Val358=
XM_011518147.1:c.402G>T	XP_011516449.1:p.Val134=
XR_929703.1:n.1706G>T
NM_001353193.1:c.1530G>T	NP_001340122.1:p.Val510=
NM_001353194.1:c.1302G>T	NP_001340123.1:p.Val434=
NM_001353195.1:c.1113G>T	NP_001340124.1:p.Val371=
NM_001353196.1:c.1374G>T	NP_001340125.1:p.Val458=
NM_001353197.1:c.1368G>T	NP_001340126.1:p.Val456=
NM_001353198.1:c.1368G>T	NP_001340127.1:p.Val456=
NM_001353199.1:c.1179G>T	NP_001340128.1:p.Val393=
NM_001353200.1:c.1008G>T	NP_001340129.1:p.Val336=
NR_148391.1:n.1514G>T
NR_148392.1:n.1732G>T
NR_148393.1:n.1653G>T
NR_148394.1:n.1407G>T
NR_148395.1:n.1805G>T
NR_148396.1:n.1439G>T
NR_148397.1:n.1564G>T
NR_148398.1:n.1519G>T
NR_148399.1:n.2045G>T
NR_148400.1:n.1644G>T
XM_005272162.3:c.333G>T	XP_005272219.1:p.Val111=
XM_006716932.2:c.1179G>T	XP_006716995.1:p.Val393=
XM_011518140.2:c.1383G>T	XP_011516442.1:p.Val461=
XM_011518141.2:c.1317G>T	XP_011516443.1:p.Val439=
XM_011518142.2:c.1221G>T	XP_011516444.1:p.Val407=
XM_011518143.2:c.1215G>T	XP_011516445.1:p.Val405=
XM_011518145.2:c.1074G>T	XP_011516447.1:p.Val358=
XM_017014205.2:c.333G>T	XP_016869694.1:p.Val111=
XM_024447380.1:c.333G>T	XP_024303148.1:p.Val111=
XM_024447381.1:c.639G>T	XP_024303149.1:p.Val213=
XM_024447382.1:c.333G>T	XP_024303150.1:p.Val111=
XR_001746160.2:n.1634G>T
XR_001746162.2:n.1839G>T
XR_001746164.1:n.1556G>T
XR_001746166.2:n.1851G>T
NM_001077365.2:c.1464G>T MANE Select	NP_001070833.1:p.Val488=
NM_001077366.2:c.1302G>T	NP_001070834.1:p.Val434=
NM_001136113.2:c.1464G>T	NP_001129585.1:p.Val488=
NM_001136114.2:c.1113G>T	NP_001129586.1:p.Val371=
NM_001353193.2:c.1530G>T	NP_001340122.2:p.Val510=
NM_001353194.2:c.1302G>T	NP_001340123.1:p.Val434=
NM_001353195.2:c.1113G>T	NP_001340124.1:p.Val371=
NM_001353196.2:c.1374G>T	NP_001340125.1:p.Val458=
NM_001353197.2:c.1368G>T	NP_001340126.2:p.Val456=
NM_001353198.2:c.1368G>T	NP_001340127.2:p.Val456=
NM_001353199.2:c.1179G>T	NP_001340128.2:p.Val393=
NM_001353200.2:c.1008G>T	NP_001340129.1:p.Val336=
NM_001374689.1:c.1452G>T	NP_001361618.1:p.Val484=
NM_001374690.1:c.1365+398G>T	NP_001361619.1:n.1365+398G>T
NM_001374691.1:c.1113G>T	NP_001361620.1:p.Val371=
NM_001374692.1:c.1113G>T	NP_001361621.1:p.Val371=
NM_001374693.1:c.1113G>T	NP_001361622.1:p.Val371=
NM_001374695.1:c.1074G>T	NP_001361624.1:p.Val358=
NM_007171.4:c.1530G>T	NP_009102.4:p.Val510=
NR_148391.2:n.1498G>T
NR_148392.2:n.1716G>T
NR_148393.2:n.1637G>T
NR_148394.2:n.1391G>T
NR_148395.2:n.1789G>T
NR_148396.2:n.1423G>T
NR_148397.2:n.1548G>T
NR_148398.2:n.1503G>T
NR_148399.2:n.2029G>T
NR_148400.2:n.1628G>T