Canonical Allele Identifier: CA467424204

Gene: POMT1

Linked Data

• ClinVar Variation Id: 2943607
• ClinVar RCV Id: RCV003803165
• gnomAD v4: 9-131523031-C-T
• MyVariant Identifiers: chr9:g.134398418C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523031C>T , CM000671.2:g.131523031C>T	GRCh38
NC_000009.11:g.134398418C>T , CM000671.1:g.134398418C>T	GRCh37
NC_000009.10:g.133388239C>T	NCBI36
NG_008896.1:g.25130C>T
NG_008896.2:g.25130C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1941C>T	ENSP00000343034.7:p.Asp647=
ENST00000404875.7:n.2643C>T
ENST00000423007.6:c.2160C>T	ENSP00000404119.2:p.Asp720=
ENST00000677295.2:c.*2447C>T	ENSP00000504346.2:n.*2447C>T
ENST00000678264.2:c.*2286C>T	ENSP00000503157.2:n.*2286C>T
ENST00000682070.1:n.2413C>T
ENST00000682639.1:c.100C>T
ENST00000682813.1:n.2500C>T
ENST00000683231.1:c.100C>T
ENST00000683392.1:n.4695C>T
ENST00000683712.1:n.2508C>T
ENST00000683900.1:n.4003C>T
ENST00000684062.1:n.2769C>T
ENST00000684399.1:c.100C>T
ENST00000684579.1:n.3949C>T
ENST00000341012.12:c.1941C>T	ENSP00000343034.7:p.Asp647=
ENST00000372220.5:c.972C>T	ENSP00000361294.5:p.Asp324=
ENST00000372228.9:c.2169C>T	ENSP00000361302.3:p.Asp723=
ENST00000402686.8:c.2103C>T MANE Select	ENSP00000385797.4:p.Asp701=
ENST00000676640.1:c.2103C>T	ENSP00000503281.1:p.Asp701=
ENST00000676803.1:c.1164C>T	ENSP00000503093.1:p.Asp388=
ENST00000676835.1:c.*1318C>T	ENSP00000502911.1:n.*1318C>T
ENST00000677029.1:c.1647C>T	ENSP00000502936.1:p.Asp549=
ENST00000677099.1:c.*1813C>T	ENSP00000504553.1:n.*1813C>T
ENST00000677216.1:c.1752C>T	ENSP00000503772.1:p.Asp584=
ENST00000677295.1:c.*1325C>T	ENSP00000504346.1:n.*1325C>T
ENST00000677444.1:c.2048C>T
ENST00000677586.1:n.1470C>T
ENST00000677626.1:c.1752C>T	ENSP00000503552.1:p.Asp584=
ENST00000677853.1:c.*1111C>T	ENSP00000503488.1:n.*1111C>T
ENST00000678264.1:c.*1480C>T	ENSP00000503157.1:n.*1480C>T
ENST00000678303.1:c.2013C>T	ENSP00000503696.1:p.Asp671=
ENST00000678366.1:c.*2352C>T	ENSP00000504353.1:n.*2352C>T
ENST00000678546.1:c.*2048C>T	ENSP00000503062.1:n.*2048C>T
ENST00000678548.1:c.*2242C>T	ENSP00000503934.1:n.*2242C>T
ENST00000678626.1:n.1939C>T
ENST00000678739.1:c.*2269C>T	ENSP00000503806.1:n.*2269C>T
ENST00000678833.1:c.*1855C>T	ENSP00000503893.1:n.*1855C>T
ENST00000679023.1:c.1941C>T	ENSP00000503718.1:p.Asp647=
ENST00000679076.1:c.1722C>T
ENST00000679111.1:c.*859C>T	ENSP00000504257.1:n.*859C>T
ENST00000679189.1:c.1752C>T	ENSP00000503356.1:p.Asp584=
ENST00000341012.11:c.1941C>T	ENSP00000343034.7:p.Asp647=
ENST00000372220.4:c.966C>T	ENSP00000361294.4:p.Asp322=
ENST00000372228.7:c.2169C>T	ENSP00000361302.3:p.Asp723=
ENST00000402686.7:c.2103C>T	ENSP00000385797.3:p.Asp701=
ENST00000404875.6:c.1752C>T	ENSP00000384531.2:p.Asp584=
ENST00000423007.5:c.2103C>T	ENSP00000404119.1:p.Asp701=
ENST00000485278.5:n.2653C>T
NM_001077365.1:c.2103C>T	NP_001070833.1:p.Asp701=
NM_001077366.1:c.1941C>T	NP_001070834.1:p.Asp647=
NM_001136113.1:c.2103C>T	NP_001129585.1:p.Asp701=
NM_001136114.1:c.1752C>T	NP_001129586.1:p.Asp584=
NM_007171.3:c.2169C>T	NP_009102.3:p.Asp723=
XM_005272156.1:c.2169C>T	XP_005272213.1:p.Asp723=
XM_005272158.1:c.2007C>T	XP_005272215.1:p.Asp669=
XM_005272159.1:c.1818C>T	XP_005272216.1:p.Asp606=
XM_005272162.1:c.972C>T	XP_005272219.1:p.Asp324=
XM_006716932.1:c.1818C>T	XP_006716995.1:p.Asp606=
XM_011518140.1:c.2022C>T	XP_011516442.1:p.Asp674=
XM_011518141.1:c.1956C>T	XP_011516443.1:p.Asp652=
XM_011518142.1:c.1860C>T	XP_011516444.1:p.Asp620=
XM_011518143.1:c.1854C>T	XP_011516445.1:p.Asp618=
XM_011518145.1:c.1713C>T	XP_011516447.1:p.Asp571=
XM_011518147.1:c.1041C>T	XP_011516449.1:p.Asp347=
XR_929703.1:n.2345C>T
NM_001353193.1:c.2169C>T	NP_001340122.1:p.Asp723=
NM_001353194.1:c.1941C>T	NP_001340123.1:p.Asp647=
NM_001353195.1:c.1752C>T	NP_001340124.1:p.Asp584=
NM_001353196.1:c.2013C>T	NP_001340125.1:p.Asp671=
NM_001353197.1:c.2007C>T	NP_001340126.1:p.Asp669=
NM_001353198.1:c.2007C>T	NP_001340127.1:p.Asp669=
NM_001353199.1:c.1818C>T	NP_001340128.1:p.Asp606=
NM_001353200.1:c.1647C>T	NP_001340129.1:p.Asp549=
NR_148391.1:n.2153C>T
NR_148392.1:n.2371C>T
NR_148393.1:n.2292C>T
NR_148394.1:n.2046C>T
NR_148395.1:n.2444C>T
NR_148396.1:n.2078C>T
NR_148397.1:n.2203C>T
NR_148398.1:n.2158C>T
NR_148399.1:n.2684C>T
NR_148400.1:n.2283C>T
XM_005272162.3:c.972C>T	XP_005272219.1:p.Asp324=
XM_006716932.2:c.1818C>T	XP_006716995.1:p.Asp606=
XM_011518140.2:c.2022C>T	XP_011516442.1:p.Asp674=
XM_011518141.2:c.1956C>T	XP_011516443.1:p.Asp652=
XM_011518142.2:c.1860C>T	XP_011516444.1:p.Asp620=
XM_011518143.2:c.1854C>T	XP_011516445.1:p.Asp618=
XM_011518145.2:c.1713C>T	XP_011516447.1:p.Asp571=
XM_017014205.2:c.972C>T	XP_016869694.1:p.Asp324=
XM_024447380.1:c.972C>T	XP_024303148.1:p.Asp324=
XM_024447381.1:c.1278C>T	XP_024303149.1:p.Asp426=
XM_024447382.1:c.972C>T	XP_024303150.1:p.Asp324=
XR_001746160.2:n.2273C>T
XR_001746162.2:n.2478C>T
XR_001746164.1:n.2195C>T
XR_001746166.2:n.2490C>T
NM_001077365.2:c.2103C>T MANE Select	NP_001070833.1:p.Asp701=
NM_001077366.2:c.1941C>T	NP_001070834.1:p.Asp647=
NM_001136113.2:c.2103C>T	NP_001129585.1:p.Asp701=
NM_001136114.2:c.1752C>T	NP_001129586.1:p.Asp584=
NM_001353193.2:c.2169C>T	NP_001340122.2:p.Asp723=
NM_001353194.2:c.1941C>T	NP_001340123.1:p.Asp647=
NM_001353195.2:c.1752C>T	NP_001340124.1:p.Asp584=
NM_001353196.2:c.2013C>T	NP_001340125.1:p.Asp671=
NM_001353197.2:c.2007C>T	NP_001340126.2:p.Asp669=
NM_001353198.2:c.2007C>T	NP_001340127.2:p.Asp669=
NM_001353199.2:c.1818C>T	NP_001340128.2:p.Asp606=
NM_001353200.2:c.1647C>T	NP_001340129.1:p.Asp549=
NM_001374689.1:c.2091C>T	NP_001361618.1:p.Asp697=
NM_001374690.1:c.1884C>T	NP_001361619.1:p.Asp628=
NM_001374691.1:c.1752C>T	NP_001361620.1:p.Asp584=
NM_001374692.1:c.1752C>T	NP_001361621.1:p.Asp584=
NM_001374693.1:c.1752C>T	NP_001361622.1:p.Asp584=
NM_001374695.1:c.1713C>T	NP_001361624.1:p.Asp571=
NM_007171.4:c.2169C>T	NP_009102.4:p.Asp723=
NR_148391.2:n.2137C>T
NR_148392.2:n.2355C>T
NR_148393.2:n.2276C>T
NR_148394.2:n.2030C>T
NR_148395.2:n.2428C>T
NR_148396.2:n.2062C>T
NR_148397.2:n.2187C>T
NR_148398.2:n.2142C>T
NR_148399.2:n.2668C>T
NR_148400.2:n.2267C>T