Canonical Allele Identifier: CA375315372

Gene: POMT1

Linked Data

• dbSNP Id: rs147266709
• MyVariant Identifiers: chr9:g.134398452C>A (hg19) ; chr9:g.131523065C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523065C>A , CM000671.2:g.131523065C>A	GRCh38
NC_000009.11:g.134398452C>A , CM000671.1:g.134398452C>A	GRCh37
NC_000009.10:g.133388273C>A	NCBI36
NG_008896.1:g.25164C>A
NG_008896.2:g.25164C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1975C>A	ENSP00000343034.7:p.Arg659Ser
ENST00000404875.7:n.2677C>A
ENST00000423007.6:c.2194C>A	ENSP00000404119.2:p.Arg732Ser
ENST00000677295.2:c.*2481C>A	ENSP00000504346.2:n.*2481C>A
ENST00000678264.2:c.*2320C>A	ENSP00000503157.2:n.*2320C>A
ENST00000682070.1:n.2447C>A
ENST00000682639.1:c.134C>A
ENST00000682813.1:n.2534C>A
ENST00000683231.1:c.134C>A
ENST00000683392.1:n.4729C>A
ENST00000683712.1:n.2542C>A
ENST00000683900.1:n.4037C>A
ENST00000684062.1:n.2803C>A
ENST00000684399.1:c.134C>A
ENST00000684579.1:n.3983C>A
ENST00000341012.12:c.1975C>A	ENSP00000343034.7:p.Arg659Ser
ENST00000372220.5:c.1006C>A	ENSP00000361294.5:p.Arg336Ser
ENST00000372228.9:c.2203C>A	ENSP00000361302.3:p.Arg735Ser
ENST00000402686.8:c.2137C>A MANE Select	ENSP00000385797.4:p.Arg713Ser
ENST00000676640.1:c.2137C>A	ENSP00000503281.1:p.Arg713Ser
ENST00000676803.1:c.1198C>A	ENSP00000503093.1:p.Arg400Ser
ENST00000676835.1:c.*1352C>A	ENSP00000502911.1:n.*1352C>A
ENST00000677029.1:c.1681C>A	ENSP00000502936.1:p.Arg561Ser
ENST00000677099.1:c.*1847C>A	ENSP00000504553.1:n.*1847C>A
ENST00000677216.1:c.1786C>A	ENSP00000503772.1:p.Arg596Ser
ENST00000677295.1:c.*1359C>A	ENSP00000504346.1:n.*1359C>A
ENST00000677444.1:c.2082C>A
ENST00000677586.1:n.1504C>A
ENST00000677626.1:c.1786C>A	ENSP00000503552.1:p.Arg596Ser
ENST00000677853.1:c.*1145C>A	ENSP00000503488.1:n.*1145C>A
ENST00000678264.1:c.*1514C>A	ENSP00000503157.1:n.*1514C>A
ENST00000678303.1:c.2047C>A	ENSP00000503696.1:p.Arg683Ser
ENST00000678366.1:c.*2386C>A	ENSP00000504353.1:n.*2386C>A
ENST00000678546.1:c.*2082C>A	ENSP00000503062.1:n.*2082C>A
ENST00000678548.1:c.*2276C>A	ENSP00000503934.1:n.*2276C>A
ENST00000678626.1:n.1973C>A
ENST00000678739.1:c.*2303C>A	ENSP00000503806.1:n.*2303C>A
ENST00000678833.1:c.*1889C>A	ENSP00000503893.1:n.*1889C>A
ENST00000679023.1:c.1975C>A	ENSP00000503718.1:p.Arg659Ser
ENST00000679076.1:c.1756C>A
ENST00000679111.1:c.*893C>A	ENSP00000504257.1:n.*893C>A
ENST00000679189.1:c.1786C>A	ENSP00000503356.1:p.Arg596Ser
ENST00000341012.11:c.1975C>A	ENSP00000343034.7:p.Arg659Ser
ENST00000372220.4:c.1000C>A	ENSP00000361294.4:p.Arg334Ser
ENST00000372228.7:c.2203C>A	ENSP00000361302.3:p.Arg735Ser
ENST00000402686.7:c.2137C>A	ENSP00000385797.3:p.Arg713Ser
ENST00000404875.6:c.1786C>A	ENSP00000384531.2:p.Arg596Ser
ENST00000423007.5:c.2137C>A	ENSP00000404119.1:p.Arg713Ser
ENST00000485278.5:n.2687C>A
NM_001077365.1:c.2137C>A	NP_001070833.1:p.Arg713Ser
NM_001077366.1:c.1975C>A	NP_001070834.1:p.Arg659Ser
NM_001136113.1:c.2137C>A	NP_001129585.1:p.Arg713Ser
NM_001136114.1:c.1786C>A	NP_001129586.1:p.Arg596Ser
NM_007171.3:c.2203C>A	NP_009102.3:p.Arg735Ser
XM_005272156.1:c.2203C>A	XP_005272213.1:p.Arg735Ser
XM_005272158.1:c.2041C>A	XP_005272215.1:p.Arg681Ser
XM_005272159.1:c.1852C>A	XP_005272216.1:p.Arg618Ser
XM_005272162.1:c.1006C>A	XP_005272219.1:p.Arg336Ser
XM_006716932.1:c.1852C>A	XP_006716995.1:p.Arg618Ser
XM_011518140.1:c.2056C>A	XP_011516442.1:p.Arg686Ser
XM_011518141.1:c.1990C>A	XP_011516443.1:p.Arg664Ser
XM_011518142.1:c.1894C>A	XP_011516444.1:p.Arg632Ser
XM_011518143.1:c.1888C>A	XP_011516445.1:p.Arg630Ser
XM_011518145.1:c.1747C>A	XP_011516447.1:p.Arg583Ser
XM_011518147.1:c.1075C>A	XP_011516449.1:p.Arg359Ser
XR_929703.1:n.2379C>A
NM_001353193.1:c.2203C>A	NP_001340122.1:p.Arg735Ser
NM_001353194.1:c.1975C>A	NP_001340123.1:p.Arg659Ser
NM_001353195.1:c.1786C>A	NP_001340124.1:p.Arg596Ser
NM_001353196.1:c.2047C>A	NP_001340125.1:p.Arg683Ser
NM_001353197.1:c.2041C>A	NP_001340126.1:p.Arg681Ser
NM_001353198.1:c.2041C>A	NP_001340127.1:p.Arg681Ser
NM_001353199.1:c.1852C>A	NP_001340128.1:p.Arg618Ser
NM_001353200.1:c.1681C>A	NP_001340129.1:p.Arg561Ser
NR_148391.1:n.2187C>A
NR_148392.1:n.2405C>A
NR_148393.1:n.2326C>A
NR_148394.1:n.2080C>A
NR_148395.1:n.2478C>A
NR_148396.1:n.2112C>A
NR_148397.1:n.2237C>A
NR_148398.1:n.2192C>A
NR_148399.1:n.2718C>A
NR_148400.1:n.2317C>A
XM_005272162.3:c.1006C>A	XP_005272219.1:p.Arg336Ser
XM_006716932.2:c.1852C>A	XP_006716995.1:p.Arg618Ser
XM_011518140.2:c.2056C>A	XP_011516442.1:p.Arg686Ser
XM_011518141.2:c.1990C>A	XP_011516443.1:p.Arg664Ser
XM_011518142.2:c.1894C>A	XP_011516444.1:p.Arg632Ser
XM_011518143.2:c.1888C>A	XP_011516445.1:p.Arg630Ser
XM_011518145.2:c.1747C>A	XP_011516447.1:p.Arg583Ser
XM_017014205.2:c.1006C>A	XP_016869694.1:p.Arg336Ser
XM_024447380.1:c.1006C>A	XP_024303148.1:p.Arg336Ser
XM_024447381.1:c.1312C>A	XP_024303149.1:p.Arg438Ser
XM_024447382.1:c.1006C>A	XP_024303150.1:p.Arg336Ser
XR_001746160.2:n.2307C>A
XR_001746162.2:n.2512C>A
XR_001746164.1:n.2229C>A
XR_001746166.2:n.2524C>A
NM_001077365.2:c.2137C>A MANE Select	NP_001070833.1:p.Arg713Ser
NM_001077366.2:c.1975C>A	NP_001070834.1:p.Arg659Ser
NM_001136113.2:c.2137C>A	NP_001129585.1:p.Arg713Ser
NM_001136114.2:c.1786C>A	NP_001129586.1:p.Arg596Ser
NM_001353193.2:c.2203C>A	NP_001340122.2:p.Arg735Ser
NM_001353194.2:c.1975C>A	NP_001340123.1:p.Arg659Ser
NM_001353195.2:c.1786C>A	NP_001340124.1:p.Arg596Ser
NM_001353196.2:c.2047C>A	NP_001340125.1:p.Arg683Ser
NM_001353197.2:c.2041C>A	NP_001340126.2:p.Arg681Ser
NM_001353198.2:c.2041C>A	NP_001340127.2:p.Arg681Ser
NM_001353199.2:c.1852C>A	NP_001340128.2:p.Arg618Ser
NM_001353200.2:c.1681C>A	NP_001340129.1:p.Arg561Ser
NM_001374689.1:c.2125C>A	NP_001361618.1:p.Arg709Ser
NM_001374690.1:c.1918C>A	NP_001361619.1:p.Arg640Ser
NM_001374691.1:c.1786C>A	NP_001361620.1:p.Arg596Ser
NM_001374692.1:c.1786C>A	NP_001361621.1:p.Arg596Ser
NM_001374693.1:c.1786C>A	NP_001361622.1:p.Arg596Ser
NM_001374695.1:c.1747C>A	NP_001361624.1:p.Arg583Ser
NM_007171.4:c.2203C>A	NP_009102.4:p.Arg735Ser
NR_148391.2:n.2171C>A
NR_148392.2:n.2389C>A
NR_148393.2:n.2310C>A
NR_148394.2:n.2064C>A
NR_148395.2:n.2462C>A
NR_148396.2:n.2096C>A
NR_148397.2:n.2221C>A
NR_148398.2:n.2176C>A
NR_148399.2:n.2702C>A
NR_148400.2:n.2301C>A