Canonical Allele Identifier: CA375312101

Gene: POMT1

Linked Data

• ClinVar Variation Id: 1500135
• ClinVar RCV Id: RCV002042509
• dbSNP Id: rs2131857011
• MyVariant Identifiers: chr9:g.134394327A>C (hg19) ; chr9:g.131518940A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518940A>C , CM000671.2:g.131518940A>C	GRCh38
NC_000009.11:g.134394327A>C , CM000671.1:g.134394327A>C	GRCh37
NC_000009.10:g.133384148A>C	NCBI36
NG_008896.1:g.21039A>C
NG_008896.2:g.21039A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1307A>C	ENSP00000343034.7:p.Glu436Ala
ENST00000404875.7:n.2009A>C
ENST00000423007.6:c.1526A>C	ENSP00000404119.2:p.Glu509Ala
ENST00000677295.2:c.*1813A>C	ENSP00000504346.2:n.*1813A>C
ENST00000678264.2:c.*1652A>C	ENSP00000503157.2:n.*1652A>C
ENST00000682070.1:n.1934A>C
ENST00000682539.1:c.407A>C
ENST00000682813.1:n.1873A>C
ENST00000683392.1:n.4216A>C
ENST00000683712.1:n.1874A>C
ENST00000683900.1:n.3369A>C
ENST00000684062.1:n.2135A>C
ENST00000684579.1:n.3315A>C
ENST00000684679.1:n.696A>C
ENST00000341012.12:c.1307A>C	ENSP00000343034.7:p.Glu436Ala
ENST00000372220.5:c.338A>C	ENSP00000361294.5:p.Glu113Ala
ENST00000372228.9:c.1535A>C	ENSP00000361302.3:p.Glu512Ala
ENST00000402686.8:c.1469A>C MANE Select	ENSP00000385797.4:p.Glu490Ala
ENST00000676640.1:c.1469A>C	ENSP00000503281.1:p.Glu490Ala
ENST00000676803.1:c.644A>C	ENSP00000503093.1:p.Glu215Ala
ENST00000676835.1:c.*684A>C	ENSP00000502911.1:n.*684A>C
ENST00000677029.1:c.1013A>C	ENSP00000502936.1:p.Glu338Ala
ENST00000677099.1:c.*1179A>C	ENSP00000504553.1:n.*1179A>C
ENST00000677216.1:c.1118A>C	ENSP00000503772.1:p.Glu373Ala
ENST00000677221.1:n.494A>C
ENST00000677295.1:c.*846A>C	ENSP00000504346.1:n.*846A>C
ENST00000677444.1:c.1414A>C
ENST00000677586.1:n.950A>C
ENST00000677626.1:c.1118A>C	ENSP00000503552.1:p.Glu373Ala
ENST00000677677.1:n.1429A>C
ENST00000677853.1:c.*477A>C	ENSP00000503488.1:n.*477A>C
ENST00000678202.1:n.628A>C
ENST00000678264.1:c.*846A>C	ENSP00000503157.1:n.*846A>C
ENST00000678303.1:c.1379A>C	ENSP00000503696.1:p.Glu460Ala
ENST00000678366.1:c.*1718A>C	ENSP00000504353.1:n.*1718A>C
ENST00000678546.1:c.*1414A>C	ENSP00000503062.1:n.*1414A>C
ENST00000678548.1:c.*1541A>C	ENSP00000503934.1:n.*1541A>C
ENST00000678626.1:n.1305A>C
ENST00000678733.1:c.550A>C
ENST00000678739.1:c.*1795A>C	ENSP00000503806.1:n.*1795A>C
ENST00000678833.1:c.*916A>C	ENSP00000503893.1:n.*916A>C
ENST00000679023.1:c.1307A>C	ENSP00000503718.1:p.Glu436Ala
ENST00000679076.1:c.1088A>C
ENST00000679111.1:c.*225A>C	ENSP00000504257.1:n.*225A>C
ENST00000679189.1:c.1118A>C	ENSP00000503356.1:p.Glu373Ala
ENST00000341012.11:c.1307A>C	ENSP00000343034.7:p.Glu436Ala
ENST00000372220.4:c.332A>C	ENSP00000361294.4:p.Glu111Ala
ENST00000372228.7:c.1535A>C	ENSP00000361302.3:p.Glu512Ala
ENST00000402686.7:c.1469A>C	ENSP00000385797.3:p.Glu490Ala
ENST00000404875.6:c.1118A>C	ENSP00000384531.2:p.Glu373Ala
ENST00000423007.5:c.1469A>C	ENSP00000404119.1:p.Glu490Ala
ENST00000467848.1:n.173A>C
ENST00000485278.5:n.2024A>C
NM_001077365.1:c.1469A>C	NP_001070833.1:p.Glu490Ala
NM_001077366.1:c.1307A>C	NP_001070834.1:p.Glu436Ala
NM_001136113.1:c.1469A>C	NP_001129585.1:p.Glu490Ala
NM_001136114.1:c.1118A>C	NP_001129586.1:p.Glu373Ala
NM_007171.3:c.1535A>C	NP_009102.3:p.Glu512Ala
XM_005272156.1:c.1535A>C	XP_005272213.1:p.Glu512Ala
XM_005272158.1:c.1373A>C	XP_005272215.1:p.Glu458Ala
XM_005272159.1:c.1184A>C	XP_005272216.1:p.Glu395Ala
XM_005272162.1:c.338A>C	XP_005272219.1:p.Glu113Ala
XM_006716932.1:c.1184A>C	XP_006716995.1:p.Glu395Ala
XM_011518140.1:c.1388A>C	XP_011516442.1:p.Glu463Ala
XM_011518141.1:c.1322A>C	XP_011516443.1:p.Glu441Ala
XM_011518142.1:c.1226A>C	XP_011516444.1:p.Glu409Ala
XM_011518143.1:c.1220A>C	XP_011516445.1:p.Glu407Ala
XM_011518145.1:c.1079A>C	XP_011516447.1:p.Glu360Ala
XM_011518147.1:c.407A>C	XP_011516449.1:p.Glu136Ala
XR_929703.1:n.1711A>C
NM_001353193.1:c.1535A>C	NP_001340122.1:p.Glu512Ala
NM_001353194.1:c.1307A>C	NP_001340123.1:p.Glu436Ala
NM_001353195.1:c.1118A>C	NP_001340124.1:p.Glu373Ala
NM_001353196.1:c.1379A>C	NP_001340125.1:p.Glu460Ala
NM_001353197.1:c.1373A>C	NP_001340126.1:p.Glu458Ala
NM_001353198.1:c.1373A>C	NP_001340127.1:p.Glu458Ala
NM_001353199.1:c.1184A>C	NP_001340128.1:p.Glu395Ala
NM_001353200.1:c.1013A>C	NP_001340129.1:p.Glu338Ala
NR_148391.1:n.1519A>C
NR_148392.1:n.1737A>C
NR_148393.1:n.1658A>C
NR_148394.1:n.1412A>C
NR_148395.1:n.1810A>C
NR_148396.1:n.1444A>C
NR_148397.1:n.1569A>C
NR_148398.1:n.1524A>C
NR_148399.1:n.2050A>C
NR_148400.1:n.1649A>C
XM_005272162.3:c.338A>C	XP_005272219.1:p.Glu113Ala
XM_006716932.2:c.1184A>C	XP_006716995.1:p.Glu395Ala
XM_011518140.2:c.1388A>C	XP_011516442.1:p.Glu463Ala
XM_011518141.2:c.1322A>C	XP_011516443.1:p.Glu441Ala
XM_011518142.2:c.1226A>C	XP_011516444.1:p.Glu409Ala
XM_011518143.2:c.1220A>C	XP_011516445.1:p.Glu407Ala
XM_011518145.2:c.1079A>C	XP_011516447.1:p.Glu360Ala
XM_017014205.2:c.338A>C	XP_016869694.1:p.Glu113Ala
XM_024447380.1:c.338A>C	XP_024303148.1:p.Glu113Ala
XM_024447381.1:c.644A>C	XP_024303149.1:p.Glu215Ala
XM_024447382.1:c.338A>C	XP_024303150.1:p.Glu113Ala
XR_001746160.2:n.1639A>C
XR_001746162.2:n.1844A>C
XR_001746164.1:n.1561A>C
XR_001746166.2:n.1856A>C
NM_001077365.2:c.1469A>C MANE Select	NP_001070833.1:p.Glu490Ala
NM_001077366.2:c.1307A>C	NP_001070834.1:p.Glu436Ala
NM_001136113.2:c.1469A>C	NP_001129585.1:p.Glu490Ala
NM_001136114.2:c.1118A>C	NP_001129586.1:p.Glu373Ala
NM_001353193.2:c.1535A>C	NP_001340122.2:p.Glu512Ala
NM_001353194.2:c.1307A>C	NP_001340123.1:p.Glu436Ala
NM_001353195.2:c.1118A>C	NP_001340124.1:p.Glu373Ala
NM_001353196.2:c.1379A>C	NP_001340125.1:p.Glu460Ala
NM_001353197.2:c.1373A>C	NP_001340126.2:p.Glu458Ala
NM_001353198.2:c.1373A>C	NP_001340127.2:p.Glu458Ala
NM_001353199.2:c.1184A>C	NP_001340128.2:p.Glu395Ala
NM_001353200.2:c.1013A>C	NP_001340129.1:p.Glu338Ala
NM_001374689.1:c.1457A>C	NP_001361618.1:p.Glu486Ala
NM_001374690.1:c.1365+403A>C	NP_001361619.1:n.1365+403A>C
NM_001374691.1:c.1118A>C	NP_001361620.1:p.Glu373Ala
NM_001374692.1:c.1118A>C	NP_001361621.1:p.Glu373Ala
NM_001374693.1:c.1118A>C	NP_001361622.1:p.Glu373Ala
NM_001374695.1:c.1079A>C	NP_001361624.1:p.Glu360Ala
NM_007171.4:c.1535A>C	NP_009102.4:p.Glu512Ala
NR_148391.2:n.1503A>C
NR_148392.2:n.1721A>C
NR_148393.2:n.1642A>C
NR_148394.2:n.1396A>C
NR_148395.2:n.1794A>C
NR_148396.2:n.1428A>C
NR_148397.2:n.1553A>C
NR_148398.2:n.1508A>C
NR_148399.2:n.2034A>C
NR_148400.2:n.1633A>C