Canonical Allele Identifier: CA375308761

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134387436A>T (hg19) ; chr9:g.131512049A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131512049A>T , CM000671.2:g.131512049A>T	GRCh38
NC_000009.11:g.134387436A>T , CM000671.1:g.134387436A>T	GRCh37
NC_000009.10:g.133377257A>T	NCBI36
NG_008896.1:g.14148A>T
NG_008896.2:g.14148A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.833A>T	ENSP00000343034.7:p.Asn278Ile
ENST00000404875.7:n.1535A>T
ENST00000423007.6:c.1052A>T	ENSP00000404119.2:p.Asn351Ile
ENST00000677295.2:c.*1339A>T	ENSP00000504346.2:n.*1339A>T
ENST00000678264.2:c.*1178A>T	ENSP00000503157.2:n.*1178A>T
ENST00000678942.2:c.*548A>T	ENSP00000504690.2:n.*548A>T
ENST00000682070.1:n.1460A>T
ENST00000682813.1:n.1260A>T
ENST00000683392.1:n.3742A>T
ENST00000683712.1:n.1400A>T
ENST00000683900.1:n.2895A>T
ENST00000684062.1:n.1661A>T
ENST00000684579.1:n.2841A>T
ENST00000341012.12:c.833A>T	ENSP00000343034.7:p.Asn278Ile
ENST00000372220.5:c.-137A>T	ENSP00000361294.5:n.-137A>T
ENST00000372228.9:c.1061A>T	ENSP00000361302.3:p.Asn354Ile
ENST00000402686.8:c.995A>T MANE Select	ENSP00000385797.4:p.Asn332Ile
ENST00000415075.6:c.*453A>T	ENSP00000405149.2:n.*453A>T
ENST00000676640.1:c.995A>T	ENSP00000503281.1:p.Asn332Ile
ENST00000676803.1:c.170A>T	ENSP00000503093.1:p.Asn57Ile
ENST00000676835.1:c.*210A>T	ENSP00000502911.1:n.*210A>T
ENST00000677029.1:c.539A>T	ENSP00000502936.1:p.Asn180Ile
ENST00000677099.1:c.*705A>T	ENSP00000504553.1:n.*705A>T
ENST00000677216.1:c.644A>T	ENSP00000503772.1:p.Asn215Ile
ENST00000677293.1:c.170A>T	ENSP00000504278.1:p.Asn57Ile
ENST00000677295.1:c.*372A>T	ENSP00000504346.1:n.*372A>T
ENST00000677444.1:c.801A>T
ENST00000677586.1:n.476A>T
ENST00000677626.1:c.824+582A>T	ENSP00000503552.1:n.824+582A>T
ENST00000677677.1:n.955A>T
ENST00000677853.1:c.*3A>T	ENSP00000503488.1:n.*3A>T
ENST00000677944.1:c.257A>T
ENST00000678264.1:c.*372A>T	ENSP00000503157.1:n.*372A>T
ENST00000678303.1:c.905A>T	ENSP00000503696.1:p.Asn302Ile
ENST00000678366.1:c.*1244A>T	ENSP00000504353.1:n.*1244A>T
ENST00000678546.1:c.*940A>T	ENSP00000503062.1:n.*940A>T
ENST00000678548.1:c.*1067A>T	ENSP00000503934.1:n.*1067A>T
ENST00000678626.1:n.692A>T
ENST00000678733.1:c.169A>T
ENST00000678739.1:c.*1321A>T	ENSP00000503806.1:n.*1321A>T
ENST00000678795.1:n.82A>T
ENST00000678833.1:c.*442A>T	ENSP00000503893.1:n.*442A>T
ENST00000678942.1:c.175A>T	ENSP00000504690.1:n.175A>T
ENST00000679023.1:c.833A>T	ENSP00000503718.1:p.Asn278Ile
ENST00000679073.1:c.373A>T	ENSP00000504356.1:n.373A>T
ENST00000679076.1:c.614A>T
ENST00000679111.1:c.995A>T	ENSP00000504257.1:p.Asn332Ile
ENST00000679189.1:c.644A>T	ENSP00000503356.1:p.Asn215Ile
ENST00000341012.11:c.833A>T	ENSP00000343034.7:p.Asn278Ile
ENST00000372228.7:c.1061A>T	ENSP00000361302.3:p.Asn354Ile
ENST00000402686.7:c.995A>T	ENSP00000385797.3:p.Asn332Ile
ENST00000404875.6:c.644A>T	ENSP00000384531.2:p.Asn215Ile
ENST00000415075.5:c.392A>T	ENSP00000405149.1:p.Asn131Ile
ENST00000423007.5:c.995A>T	ENSP00000404119.1:p.Asn332Ile
ENST00000441334.5:c.710A>T	ENSP00000395060.1:p.Asn237Ile
ENST00000462375.5:n.821A>T
ENST00000485278.5:n.1550A>T
NM_001077365.1:c.995A>T	NP_001070833.1:p.Asn332Ile
NM_001077366.1:c.833A>T	NP_001070834.1:p.Asn278Ile
NM_001136113.1:c.995A>T	NP_001129585.1:p.Asn332Ile
NM_001136114.1:c.644A>T	NP_001129586.1:p.Asn215Ile
NM_007171.3:c.1061A>T	NP_009102.3:p.Asn354Ile
XM_005272156.1:c.1061A>T	XP_005272213.1:p.Asn354Ile
XM_005272158.1:c.899A>T	XP_005272215.1:p.Asn300Ile
XM_005272159.1:c.710A>T	XP_005272216.1:p.Asn237Ile
XM_005272162.1:c.-137A>T	XP_005272219.1:n.-137A>T
XM_006716932.1:c.710A>T	XP_006716995.1:p.Asn237Ile
XM_011518140.1:c.914A>T	XP_011516442.1:p.Asn305Ile
XM_011518141.1:c.848A>T	XP_011516443.1:p.Asn283Ile
XM_011518142.1:c.752A>T	XP_011516444.1:p.Asn251Ile
XM_011518143.1:c.746A>T	XP_011516445.1:p.Asn249Ile
XM_011518144.1:c.1061A>T	XP_011516446.1:p.Asn354Ile
XM_011518145.1:c.605A>T	XP_011516447.1:p.Asn202Ile
XM_011518146.1:c.746A>T	XP_011516448.1:p.Asn249Ile
XR_929703.1:n.1237A>T
NM_001353193.1:c.1061A>T	NP_001340122.1:p.Asn354Ile
NM_001353194.1:c.833A>T	NP_001340123.1:p.Asn278Ile
NM_001353195.1:c.644A>T	NP_001340124.1:p.Asn215Ile
NM_001353196.1:c.905A>T	NP_001340125.1:p.Asn302Ile
NM_001353197.1:c.899A>T	NP_001340126.1:p.Asn300Ile
NM_001353198.1:c.899A>T	NP_001340127.1:p.Asn300Ile
NM_001353199.1:c.710A>T	NP_001340128.1:p.Asn237Ile
NM_001353200.1:c.539A>T	NP_001340129.1:p.Asn180Ile
NR_148391.1:n.1045A>T
NR_148392.1:n.1263A>T
NR_148393.1:n.1045A>T
NR_148394.1:n.938A>T
NR_148395.1:n.1197A>T
NR_148396.1:n.831A>T
NR_148397.1:n.1095A>T
NR_148398.1:n.1050A>T
NR_148399.1:n.1437A>T
NR_148400.1:n.1036A>T
XM_005272162.3:c.-137A>T	XP_005272219.1:n.-137A>T
XM_006716932.2:c.710A>T	XP_006716995.1:p.Asn237Ile
XM_011518140.2:c.914A>T	XP_011516442.1:p.Asn305Ile
XM_011518141.2:c.848A>T	XP_011516443.1:p.Asn283Ile
XM_011518142.2:c.752A>T	XP_011516444.1:p.Asn251Ile
XM_011518143.2:c.746A>T	XP_011516445.1:p.Asn249Ile
XM_011518145.2:c.605A>T	XP_011516447.1:p.Asn202Ile
XM_017014205.2:c.-137A>T	XP_016869694.1:n.-137A>T
XM_024447380.1:c.-137A>T	XP_024303148.1:n.-137A>T
XM_024447381.1:c.170A>T	XP_024303149.1:p.Asn57Ile
XM_024447382.1:c.-137A>T	XP_024303150.1:n.-137A>T
XR_001746160.2:n.1165A>T
XR_001746162.2:n.1231A>T
XR_001746164.1:n.948A>T
XR_001746166.2:n.1382A>T
NM_001077365.2:c.995A>T MANE Select	NP_001070833.1:p.Asn332Ile
NM_001077366.2:c.833A>T	NP_001070834.1:p.Asn278Ile
NM_001136113.2:c.995A>T	NP_001129585.1:p.Asn332Ile
NM_001136114.2:c.644A>T	NP_001129586.1:p.Asn215Ile
NM_001353193.2:c.1061A>T	NP_001340122.2:p.Asn354Ile
NM_001353194.2:c.833A>T	NP_001340123.1:p.Asn278Ile
NM_001353195.2:c.644A>T	NP_001340124.1:p.Asn215Ile
NM_001353196.2:c.905A>T	NP_001340125.1:p.Asn302Ile
NM_001353197.2:c.899A>T	NP_001340126.2:p.Asn300Ile
NM_001353198.2:c.899A>T	NP_001340127.2:p.Asn300Ile
NM_001353199.2:c.710A>T	NP_001340128.2:p.Asn237Ile
NM_001353200.2:c.539A>T	NP_001340129.1:p.Asn180Ile
NM_001374689.1:c.983A>T	NP_001361618.1:p.Asn328Ile
NM_001374690.1:c.995A>T	NP_001361619.1:p.Asn332Ile
NM_001374691.1:c.644A>T	NP_001361620.1:p.Asn215Ile
NM_001374692.1:c.644A>T	NP_001361621.1:p.Asn215Ile
NM_001374693.1:c.824+582A>T	NP_001361622.1:n.824+582A>T
NM_001374695.1:c.605A>T	NP_001361624.1:p.Asn202Ile
NM_007171.4:c.1061A>T	NP_009102.4:p.Asn354Ile
NR_148391.2:n.1029A>T
NR_148392.2:n.1247A>T
NR_148393.2:n.1029A>T
NR_148394.2:n.922A>T
NR_148395.2:n.1181A>T
NR_148396.2:n.815A>T
NR_148397.2:n.1079A>T
NR_148398.2:n.1034A>T
NR_148399.2:n.1421A>T
NR_148400.2:n.1020A>T