Canonical Allele Identifier: CA375315090

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134398372C>G (hg19) ; chr9:g.131522985C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522985C>G , CM000671.2:g.131522985C>G	GRCh38
NC_000009.11:g.134398372C>G , CM000671.1:g.134398372C>G	GRCh37
NC_000009.10:g.133388193C>G	NCBI36
NG_008896.1:g.25084C>G
NG_008896.2:g.25084C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1895C>G	ENSP00000343034.7:p.Ser632Cys
ENST00000404875.7:n.2597C>G
ENST00000423007.6:c.2114C>G	ENSP00000404119.2:p.Ser705Cys
ENST00000677295.2:c.*2401C>G	ENSP00000504346.2:n.*2401C>G
ENST00000678264.2:c.*2240C>G	ENSP00000503157.2:n.*2240C>G
ENST00000682070.1:n.2367C>G
ENST00000682639.1:c.54C>G
ENST00000682813.1:n.2454C>G
ENST00000683231.1:c.54C>G
ENST00000683392.1:n.4649C>G
ENST00000683712.1:n.2462C>G
ENST00000683900.1:n.3957C>G
ENST00000684062.1:n.2723C>G
ENST00000684399.1:c.54C>G
ENST00000684579.1:n.3903C>G
ENST00000341012.12:c.1895C>G	ENSP00000343034.7:p.Ser632Cys
ENST00000372220.5:c.926C>G	ENSP00000361294.5:p.Ser309Cys
ENST00000372228.9:c.2123C>G	ENSP00000361302.3:p.Ser708Cys
ENST00000402686.8:c.2057C>G MANE Select	ENSP00000385797.4:p.Ser686Cys
ENST00000676640.1:c.2057C>G	ENSP00000503281.1:p.Ser686Cys
ENST00000676803.1:c.1118C>G	ENSP00000503093.1:p.Ser373Cys
ENST00000676835.1:c.*1272C>G	ENSP00000502911.1:n.*1272C>G
ENST00000677029.1:c.1601C>G	ENSP00000502936.1:p.Ser534Cys
ENST00000677099.1:c.*1767C>G	ENSP00000504553.1:n.*1767C>G
ENST00000677216.1:c.1706C>G	ENSP00000503772.1:p.Ser569Cys
ENST00000677221.1:n.1082C>G
ENST00000677295.1:c.*1279C>G	ENSP00000504346.1:n.*1279C>G
ENST00000677444.1:c.2002C>G
ENST00000677586.1:n.1424C>G
ENST00000677626.1:c.1706C>G	ENSP00000503552.1:p.Ser569Cys
ENST00000677853.1:c.*1065C>G	ENSP00000503488.1:n.*1065C>G
ENST00000678264.1:c.*1434C>G	ENSP00000503157.1:n.*1434C>G
ENST00000678303.1:c.1967C>G	ENSP00000503696.1:p.Ser656Cys
ENST00000678366.1:c.*2306C>G	ENSP00000504353.1:n.*2306C>G
ENST00000678546.1:c.*2002C>G	ENSP00000503062.1:n.*2002C>G
ENST00000678548.1:c.*2196C>G	ENSP00000503934.1:n.*2196C>G
ENST00000678626.1:n.1893C>G
ENST00000678739.1:c.*2223C>G	ENSP00000503806.1:n.*2223C>G
ENST00000678833.1:c.*1809C>G	ENSP00000503893.1:n.*1809C>G
ENST00000679023.1:c.1895C>G	ENSP00000503718.1:p.Ser632Cys
ENST00000679076.1:c.1676C>G
ENST00000679111.1:c.*813C>G	ENSP00000504257.1:n.*813C>G
ENST00000679189.1:c.1706C>G	ENSP00000503356.1:p.Ser569Cys
ENST00000341012.11:c.1895C>G	ENSP00000343034.7:p.Ser632Cys
ENST00000372220.4:c.920C>G	ENSP00000361294.4:p.Ser307Cys
ENST00000372228.7:c.2123C>G	ENSP00000361302.3:p.Ser708Cys
ENST00000402686.7:c.2057C>G	ENSP00000385797.3:p.Ser686Cys
ENST00000404875.6:c.1706C>G	ENSP00000384531.2:p.Ser569Cys
ENST00000423007.5:c.2057C>G	ENSP00000404119.1:p.Ser686Cys
ENST00000485278.5:n.2607C>G
NM_001077365.1:c.2057C>G	NP_001070833.1:p.Ser686Cys
NM_001077366.1:c.1895C>G	NP_001070834.1:p.Ser632Cys
NM_001136113.1:c.2057C>G	NP_001129585.1:p.Ser686Cys
NM_001136114.1:c.1706C>G	NP_001129586.1:p.Ser569Cys
NM_007171.3:c.2123C>G	NP_009102.3:p.Ser708Cys
XM_005272156.1:c.2123C>G	XP_005272213.1:p.Ser708Cys
XM_005272158.1:c.1961C>G	XP_005272215.1:p.Ser654Cys
XM_005272159.1:c.1772C>G	XP_005272216.1:p.Ser591Cys
XM_005272162.1:c.926C>G	XP_005272219.1:p.Ser309Cys
XM_006716932.1:c.1772C>G	XP_006716995.1:p.Ser591Cys
XM_011518140.1:c.1976C>G	XP_011516442.1:p.Ser659Cys
XM_011518141.1:c.1910C>G	XP_011516443.1:p.Ser637Cys
XM_011518142.1:c.1814C>G	XP_011516444.1:p.Ser605Cys
XM_011518143.1:c.1808C>G	XP_011516445.1:p.Ser603Cys
XM_011518145.1:c.1667C>G	XP_011516447.1:p.Ser556Cys
XM_011518147.1:c.995C>G	XP_011516449.1:p.Ser332Cys
XR_929703.1:n.2299C>G
NM_001353193.1:c.2123C>G	NP_001340122.1:p.Ser708Cys
NM_001353194.1:c.1895C>G	NP_001340123.1:p.Ser632Cys
NM_001353195.1:c.1706C>G	NP_001340124.1:p.Ser569Cys
NM_001353196.1:c.1967C>G	NP_001340125.1:p.Ser656Cys
NM_001353197.1:c.1961C>G	NP_001340126.1:p.Ser654Cys
NM_001353198.1:c.1961C>G	NP_001340127.1:p.Ser654Cys
NM_001353199.1:c.1772C>G	NP_001340128.1:p.Ser591Cys
NM_001353200.1:c.1601C>G	NP_001340129.1:p.Ser534Cys
NR_148391.1:n.2107C>G
NR_148392.1:n.2325C>G
NR_148393.1:n.2246C>G
NR_148394.1:n.2000C>G
NR_148395.1:n.2398C>G
NR_148396.1:n.2032C>G
NR_148397.1:n.2157C>G
NR_148398.1:n.2112C>G
NR_148399.1:n.2638C>G
NR_148400.1:n.2237C>G
XM_005272162.3:c.926C>G	XP_005272219.1:p.Ser309Cys
XM_006716932.2:c.1772C>G	XP_006716995.1:p.Ser591Cys
XM_011518140.2:c.1976C>G	XP_011516442.1:p.Ser659Cys
XM_011518141.2:c.1910C>G	XP_011516443.1:p.Ser637Cys
XM_011518142.2:c.1814C>G	XP_011516444.1:p.Ser605Cys
XM_011518143.2:c.1808C>G	XP_011516445.1:p.Ser603Cys
XM_011518145.2:c.1667C>G	XP_011516447.1:p.Ser556Cys
XM_017014205.2:c.926C>G	XP_016869694.1:p.Ser309Cys
XM_024447380.1:c.926C>G	XP_024303148.1:p.Ser309Cys
XM_024447381.1:c.1232C>G	XP_024303149.1:p.Ser411Cys
XM_024447382.1:c.926C>G	XP_024303150.1:p.Ser309Cys
XR_001746160.2:n.2227C>G
XR_001746162.2:n.2432C>G
XR_001746164.1:n.2149C>G
XR_001746166.2:n.2444C>G
NM_001077365.2:c.2057C>G MANE Select	NP_001070833.1:p.Ser686Cys
NM_001077366.2:c.1895C>G	NP_001070834.1:p.Ser632Cys
NM_001136113.2:c.2057C>G	NP_001129585.1:p.Ser686Cys
NM_001136114.2:c.1706C>G	NP_001129586.1:p.Ser569Cys
NM_001353193.2:c.2123C>G	NP_001340122.2:p.Ser708Cys
NM_001353194.2:c.1895C>G	NP_001340123.1:p.Ser632Cys
NM_001353195.2:c.1706C>G	NP_001340124.1:p.Ser569Cys
NM_001353196.2:c.1967C>G	NP_001340125.1:p.Ser656Cys
NM_001353197.2:c.1961C>G	NP_001340126.2:p.Ser654Cys
NM_001353198.2:c.1961C>G	NP_001340127.2:p.Ser654Cys
NM_001353199.2:c.1772C>G	NP_001340128.2:p.Ser591Cys
NM_001353200.2:c.1601C>G	NP_001340129.1:p.Ser534Cys
NM_001374689.1:c.2045C>G	NP_001361618.1:p.Ser682Cys
NM_001374690.1:c.1838C>G	NP_001361619.1:p.Ser613Cys
NM_001374691.1:c.1706C>G	NP_001361620.1:p.Ser569Cys
NM_001374692.1:c.1706C>G	NP_001361621.1:p.Ser569Cys
NM_001374693.1:c.1706C>G	NP_001361622.1:p.Ser569Cys
NM_001374695.1:c.1667C>G	NP_001361624.1:p.Ser556Cys
NM_007171.4:c.2123C>G	NP_009102.4:p.Ser708Cys
NR_148391.2:n.2091C>G
NR_148392.2:n.2309C>G
NR_148393.2:n.2230C>G
NR_148394.2:n.1984C>G
NR_148395.2:n.2382C>G
NR_148396.2:n.2016C>G
NR_148397.2:n.2141C>G
NR_148398.2:n.2096C>G
NR_148399.2:n.2622C>G
NR_148400.2:n.2221C>G