Canonical Allele Identifier: CA200796694

Gene: POMT1

Linked Data

• dbSNP Id: rs143003535
• gnomAD v4: 9-131521347-C-T
• MyVariant Identifiers: chr9:g.134396734C>T (hg19) ; chr9:g.131521347C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131521347C>T , CM000671.2:g.131521347C>T	GRCh38
NC_000009.11:g.134396734C>T , CM000671.1:g.134396734C>T	GRCh37
NC_000009.10:g.133386555C>T	NCBI36
NG_008896.1:g.23446C>T
NG_008896.2:g.23446C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1538C>T	ENSP00000343034.7:p.Ala513Val
ENST00000404875.7:n.2240C>T
ENST00000423007.6:c.1757C>T	ENSP00000404119.2:p.Ala586Val
ENST00000677295.2:c.*2044C>T	ENSP00000504346.2:n.*2044C>T
ENST00000678264.2:c.*1883C>T	ENSP00000503157.2:n.*1883C>T
ENST00000682070.1:n.2165C>T
ENST00000682813.1:n.2104C>T
ENST00000683392.1:n.4447C>T
ENST00000683712.1:n.2105C>T
ENST00000683900.1:n.3600C>T
ENST00000684062.1:n.2366C>T
ENST00000684579.1:n.3546C>T
ENST00000684679.1:n.927C>T
ENST00000341012.12:c.1538C>T	ENSP00000343034.7:p.Ala513Val
ENST00000372220.5:c.569C>T	ENSP00000361294.5:p.Ala190Val
ENST00000372228.9:c.1766C>T	ENSP00000361302.3:p.Ala589Val
ENST00000402686.8:c.1700C>T MANE Select	ENSP00000385797.4:p.Ala567Val
ENST00000676640.1:c.1700C>T	ENSP00000503281.1:p.Ala567Val
ENST00000676803.1:c.761C>T	ENSP00000503093.1:p.Ala254Val
ENST00000676835.1:c.*915C>T	ENSP00000502911.1:n.*915C>T
ENST00000677029.1:c.1244C>T	ENSP00000502936.1:p.Ala415Val
ENST00000677099.1:c.*1410C>T	ENSP00000504553.1:n.*1410C>T
ENST00000677216.1:c.1349C>T	ENSP00000503772.1:p.Ala450Val
ENST00000677221.1:n.725C>T
ENST00000677295.1:c.*1077C>T	ENSP00000504346.1:n.*1077C>T
ENST00000677444.1:c.1645C>T
ENST00000677586.1:n.1067C>T
ENST00000677626.1:c.1349C>T	ENSP00000503552.1:p.Ala450Val
ENST00000677853.1:c.*708C>T	ENSP00000503488.1:n.*708C>T
ENST00000678202.1:n.859C>T
ENST00000678264.1:c.*1077C>T	ENSP00000503157.1:n.*1077C>T
ENST00000678303.1:c.1610C>T	ENSP00000503696.1:p.Ala537Val
ENST00000678366.1:c.*1949C>T	ENSP00000504353.1:n.*1949C>T
ENST00000678546.1:c.*1645C>T	ENSP00000503062.1:n.*1645C>T
ENST00000678548.1:c.*1772C>T	ENSP00000503934.1:n.*1772C>T
ENST00000678626.1:n.1536C>T
ENST00000678739.1:c.*2021C>T	ENSP00000503806.1:n.*2021C>T
ENST00000678833.1:c.*1452C>T	ENSP00000503893.1:n.*1452C>T
ENST00000679023.1:c.1538C>T	ENSP00000503718.1:p.Ala513Val
ENST00000679076.1:c.1319C>T
ENST00000679111.1:c.*456C>T	ENSP00000504257.1:n.*456C>T
ENST00000679189.1:c.1349C>T	ENSP00000503356.1:p.Ala450Val
ENST00000341012.11:c.1538C>T	ENSP00000343034.7:p.Ala513Val
ENST00000372220.4:c.563C>T	ENSP00000361294.4:p.Ala188Val
ENST00000372228.7:c.1766C>T	ENSP00000361302.3:p.Ala589Val
ENST00000402686.7:c.1700C>T	ENSP00000385797.3:p.Ala567Val
ENST00000404875.6:c.1349C>T	ENSP00000384531.2:p.Ala450Val
ENST00000423007.5:c.1700C>T	ENSP00000404119.1:p.Ala567Val
ENST00000467848.1:n.404C>T
ENST00000485278.5:n.2250C>T
ENST00000494883.1:n.243C>T
NM_001077365.1:c.1700C>T	NP_001070833.1:p.Ala567Val
NM_001077366.1:c.1538C>T	NP_001070834.1:p.Ala513Val
NM_001136113.1:c.1700C>T	NP_001129585.1:p.Ala567Val
NM_001136114.1:c.1349C>T	NP_001129586.1:p.Ala450Val
NM_007171.3:c.1766C>T	NP_009102.3:p.Ala589Val
XM_005272156.1:c.1766C>T	XP_005272213.1:p.Ala589Val
XM_005272158.1:c.1604C>T	XP_005272215.1:p.Ala535Val
XM_005272159.1:c.1415C>T	XP_005272216.1:p.Ala472Val
XM_005272162.1:c.569C>T	XP_005272219.1:p.Ala190Val
XM_006716932.1:c.1415C>T	XP_006716995.1:p.Ala472Val
XM_011518140.1:c.1619C>T	XP_011516442.1:p.Ala540Val
XM_011518141.1:c.1553C>T	XP_011516443.1:p.Ala518Val
XM_011518142.1:c.1457C>T	XP_011516444.1:p.Ala486Val
XM_011518143.1:c.1451C>T	XP_011516445.1:p.Ala484Val
XM_011518145.1:c.1310C>T	XP_011516447.1:p.Ala437Val
XM_011518147.1:c.638C>T	XP_011516449.1:p.Ala213Val
XR_929703.1:n.1942C>T
NM_001353193.1:c.1766C>T	NP_001340122.1:p.Ala589Val
NM_001353194.1:c.1538C>T	NP_001340123.1:p.Ala513Val
NM_001353195.1:c.1349C>T	NP_001340124.1:p.Ala450Val
NM_001353196.1:c.1610C>T	NP_001340125.1:p.Ala537Val
NM_001353197.1:c.1604C>T	NP_001340126.1:p.Ala535Val
NM_001353198.1:c.1604C>T	NP_001340127.1:p.Ala535Val
NM_001353199.1:c.1415C>T	NP_001340128.1:p.Ala472Val
NM_001353200.1:c.1244C>T	NP_001340129.1:p.Ala415Val
NR_148391.1:n.1750C>T
NR_148392.1:n.1968C>T
NR_148393.1:n.1889C>T
NR_148394.1:n.1643C>T
NR_148395.1:n.2041C>T
NR_148396.1:n.1675C>T
NR_148397.1:n.1800C>T
NR_148398.1:n.1755C>T
NR_148399.1:n.2281C>T
NR_148400.1:n.1880C>T
XM_005272162.3:c.569C>T	XP_005272219.1:p.Ala190Val
XM_006716932.2:c.1415C>T	XP_006716995.1:p.Ala472Val
XM_011518140.2:c.1619C>T	XP_011516442.1:p.Ala540Val
XM_011518141.2:c.1553C>T	XP_011516443.1:p.Ala518Val
XM_011518142.2:c.1457C>T	XP_011516444.1:p.Ala486Val
XM_011518143.2:c.1451C>T	XP_011516445.1:p.Ala484Val
XM_011518145.2:c.1310C>T	XP_011516447.1:p.Ala437Val
XM_017014205.2:c.569C>T	XP_016869694.1:p.Ala190Val
XM_024447380.1:c.569C>T	XP_024303148.1:p.Ala190Val
XM_024447381.1:c.875C>T	XP_024303149.1:p.Ala292Val
XM_024447382.1:c.569C>T	XP_024303150.1:p.Ala190Val
XR_001746160.2:n.1870C>T
XR_001746162.2:n.2075C>T
XR_001746164.1:n.1792C>T
XR_001746166.2:n.2087C>T
NM_001077365.2:c.1700C>T MANE Select	NP_001070833.1:p.Ala567Val
NM_001077366.2:c.1538C>T	NP_001070834.1:p.Ala513Val
NM_001136113.2:c.1700C>T	NP_001129585.1:p.Ala567Val
NM_001136114.2:c.1349C>T	NP_001129586.1:p.Ala450Val
NM_001353193.2:c.1766C>T	NP_001340122.2:p.Ala589Val
NM_001353194.2:c.1538C>T	NP_001340123.1:p.Ala513Val
NM_001353195.2:c.1349C>T	NP_001340124.1:p.Ala450Val
NM_001353196.2:c.1610C>T	NP_001340125.1:p.Ala537Val
NM_001353197.2:c.1604C>T	NP_001340126.2:p.Ala535Val
NM_001353198.2:c.1604C>T	NP_001340127.2:p.Ala535Val
NM_001353199.2:c.1415C>T	NP_001340128.2:p.Ala472Val
NM_001353200.2:c.1244C>T	NP_001340129.1:p.Ala415Val
NM_001374689.1:c.1688C>T	NP_001361618.1:p.Ala563Val
NM_001374690.1:c.1481C>T	NP_001361619.1:p.Ala494Val
NM_001374691.1:c.1349C>T	NP_001361620.1:p.Ala450Val
NM_001374692.1:c.1349C>T	NP_001361621.1:p.Ala450Val
NM_001374693.1:c.1349C>T	NP_001361622.1:p.Ala450Val
NM_001374695.1:c.1310C>T	NP_001361624.1:p.Ala437Val
NM_007171.4:c.1766C>T	NP_009102.4:p.Ala589Val
NR_148391.2:n.1734C>T
NR_148392.2:n.1952C>T
NR_148393.2:n.1873C>T
NR_148394.2:n.1627C>T
NR_148395.2:n.2025C>T
NR_148396.2:n.1659C>T
NR_148397.2:n.1784C>T
NR_148398.2:n.1739C>T
NR_148399.2:n.2265C>T
NR_148400.2:n.1864C>T