Canonical Allele Identifier: CA5293921

Gene: POMT1

Linked Data

• ClinVar Variation Id: 2039569
• ClinVar RCV Id: RCV002907915 ; RCV003134521 ; RCV003274065
• dbSNP Id: rs768264284
• ExAC: 9:134398337 C / G
• gnomAD v2: 9-134398337-C-G
• gnomAD v3: 9-131522950-C-G
• gnomAD v4: 9-131522950-C-G
• MyVariant Identifiers: chr9:g.134398337C>G (hg19) ; chr9:g.131522950C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522950C>G , CM000671.2:g.131522950C>G	GRCh38
NC_000009.11:g.134398337C>G , CM000671.1:g.134398337C>G	GRCh37
NC_000009.10:g.133388158C>G	NCBI36
NG_008896.1:g.25049C>G
NG_008896.2:g.25049C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1860C>G	ENSP00000343034.7:p.Ser620Arg
ENST00000404875.7:n.2562C>G
ENST00000423007.6:c.2079C>G	ENSP00000404119.2:p.Ser693Arg
ENST00000677295.2:c.*2366C>G	ENSP00000504346.2:n.*2366C>G
ENST00000678264.2:c.*2205C>G	ENSP00000503157.2:n.*2205C>G
ENST00000682070.1:n.2332C>G
ENST00000682639.1:c.19C>G
ENST00000682813.1:n.2419C>G
ENST00000683231.1:c.19C>G
ENST00000683392.1:n.4614C>G
ENST00000683712.1:n.2427C>G
ENST00000683900.1:n.3922C>G
ENST00000684062.1:n.2688C>G
ENST00000684399.1:c.19C>G
ENST00000684579.1:n.3868C>G
ENST00000341012.12:c.1860C>G	ENSP00000343034.7:p.Ser620Arg
ENST00000372220.5:c.891C>G	ENSP00000361294.5:p.Ser297Arg
ENST00000372228.9:c.2088C>G	ENSP00000361302.3:p.Ser696Arg
ENST00000402686.8:c.2022C>G MANE Select	ENSP00000385797.4:p.Ser674Arg
ENST00000676640.1:c.2022C>G	ENSP00000503281.1:p.Ser674Arg
ENST00000676803.1:c.1083C>G	ENSP00000503093.1:p.Ser361Arg
ENST00000676835.1:c.*1237C>G	ENSP00000502911.1:n.*1237C>G
ENST00000677029.1:c.1566C>G	ENSP00000502936.1:p.Ser522Arg
ENST00000677099.1:c.*1732C>G	ENSP00000504553.1:n.*1732C>G
ENST00000677216.1:c.1671C>G	ENSP00000503772.1:p.Ser557Arg
ENST00000677221.1:n.1047C>G
ENST00000677295.1:c.*1244C>G	ENSP00000504346.1:n.*1244C>G
ENST00000677444.1:c.1967C>G
ENST00000677586.1:n.1389C>G
ENST00000677626.1:c.1671C>G	ENSP00000503552.1:p.Ser557Arg
ENST00000677853.1:c.*1030C>G	ENSP00000503488.1:n.*1030C>G
ENST00000678264.1:c.*1399C>G	ENSP00000503157.1:n.*1399C>G
ENST00000678303.1:c.1932C>G	ENSP00000503696.1:p.Ser644Arg
ENST00000678366.1:c.*2271C>G	ENSP00000504353.1:n.*2271C>G
ENST00000678546.1:c.*1967C>G	ENSP00000503062.1:n.*1967C>G
ENST00000678548.1:c.*2161C>G	ENSP00000503934.1:n.*2161C>G
ENST00000678626.1:n.1858C>G
ENST00000678739.1:c.*2188C>G	ENSP00000503806.1:n.*2188C>G
ENST00000678833.1:c.*1774C>G	ENSP00000503893.1:n.*1774C>G
ENST00000679023.1:c.1860C>G	ENSP00000503718.1:p.Ser620Arg
ENST00000679076.1:c.1641C>G
ENST00000679111.1:c.*778C>G	ENSP00000504257.1:n.*778C>G
ENST00000679189.1:c.1671C>G	ENSP00000503356.1:p.Ser557Arg
ENST00000341012.11:c.1860C>G	ENSP00000343034.7:p.Ser620Arg
ENST00000372220.4:c.885C>G	ENSP00000361294.4:p.Ser295Arg
ENST00000372228.7:c.2088C>G	ENSP00000361302.3:p.Ser696Arg
ENST00000402686.7:c.2022C>G	ENSP00000385797.3:p.Ser674Arg
ENST00000404875.6:c.1671C>G	ENSP00000384531.2:p.Ser557Arg
ENST00000423007.5:c.2022C>G	ENSP00000404119.1:p.Ser674Arg
ENST00000485278.5:n.2572C>G
NM_001077365.1:c.2022C>G	NP_001070833.1:p.Ser674Arg
NM_001077366.1:c.1860C>G	NP_001070834.1:p.Ser620Arg
NM_001136113.1:c.2022C>G	NP_001129585.1:p.Ser674Arg
NM_001136114.1:c.1671C>G	NP_001129586.1:p.Ser557Arg
NM_007171.3:c.2088C>G	NP_009102.3:p.Ser696Arg
XM_005272156.1:c.2088C>G	XP_005272213.1:p.Ser696Arg
XM_005272158.1:c.1926C>G	XP_005272215.1:p.Ser642Arg
XM_005272159.1:c.1737C>G	XP_005272216.1:p.Ser579Arg
XM_005272162.1:c.891C>G	XP_005272219.1:p.Ser297Arg
XM_006716932.1:c.1737C>G	XP_006716995.1:p.Ser579Arg
XM_011518140.1:c.1941C>G	XP_011516442.1:p.Ser647Arg
XM_011518141.1:c.1875C>G	XP_011516443.1:p.Ser625Arg
XM_011518142.1:c.1779C>G	XP_011516444.1:p.Ser593Arg
XM_011518143.1:c.1773C>G	XP_011516445.1:p.Ser591Arg
XM_011518145.1:c.1632C>G	XP_011516447.1:p.Ser544Arg
XM_011518147.1:c.960C>G	XP_011516449.1:p.Ser320Arg
XR_929703.1:n.2264C>G
NM_001353193.1:c.2088C>G	NP_001340122.1:p.Ser696Arg
NM_001353194.1:c.1860C>G	NP_001340123.1:p.Ser620Arg
NM_001353195.1:c.1671C>G	NP_001340124.1:p.Ser557Arg
NM_001353196.1:c.1932C>G	NP_001340125.1:p.Ser644Arg
NM_001353197.1:c.1926C>G	NP_001340126.1:p.Ser642Arg
NM_001353198.1:c.1926C>G	NP_001340127.1:p.Ser642Arg
NM_001353199.1:c.1737C>G	NP_001340128.1:p.Ser579Arg
NM_001353200.1:c.1566C>G	NP_001340129.1:p.Ser522Arg
NR_148391.1:n.2072C>G
NR_148392.1:n.2290C>G
NR_148393.1:n.2211C>G
NR_148394.1:n.1965C>G
NR_148395.1:n.2363C>G
NR_148396.1:n.1997C>G
NR_148397.1:n.2122C>G
NR_148398.1:n.2077C>G
NR_148399.1:n.2603C>G
NR_148400.1:n.2202C>G
XM_005272162.3:c.891C>G	XP_005272219.1:p.Ser297Arg
XM_006716932.2:c.1737C>G	XP_006716995.1:p.Ser579Arg
XM_011518140.2:c.1941C>G	XP_011516442.1:p.Ser647Arg
XM_011518141.2:c.1875C>G	XP_011516443.1:p.Ser625Arg
XM_011518142.2:c.1779C>G	XP_011516444.1:p.Ser593Arg
XM_011518143.2:c.1773C>G	XP_011516445.1:p.Ser591Arg
XM_011518145.2:c.1632C>G	XP_011516447.1:p.Ser544Arg
XM_017014205.2:c.891C>G	XP_016869694.1:p.Ser297Arg
XM_024447380.1:c.891C>G	XP_024303148.1:p.Ser297Arg
XM_024447381.1:c.1197C>G	XP_024303149.1:p.Ser399Arg
XM_024447382.1:c.891C>G	XP_024303150.1:p.Ser297Arg
XR_001746160.2:n.2192C>G
XR_001746162.2:n.2397C>G
XR_001746164.1:n.2114C>G
XR_001746166.2:n.2409C>G
NM_001077365.2:c.2022C>G MANE Select	NP_001070833.1:p.Ser674Arg
NM_001077366.2:c.1860C>G	NP_001070834.1:p.Ser620Arg
NM_001136113.2:c.2022C>G	NP_001129585.1:p.Ser674Arg
NM_001136114.2:c.1671C>G	NP_001129586.1:p.Ser557Arg
NM_001353193.2:c.2088C>G	NP_001340122.2:p.Ser696Arg
NM_001353194.2:c.1860C>G	NP_001340123.1:p.Ser620Arg
NM_001353195.2:c.1671C>G	NP_001340124.1:p.Ser557Arg
NM_001353196.2:c.1932C>G	NP_001340125.1:p.Ser644Arg
NM_001353197.2:c.1926C>G	NP_001340126.2:p.Ser642Arg
NM_001353198.2:c.1926C>G	NP_001340127.2:p.Ser642Arg
NM_001353199.2:c.1737C>G	NP_001340128.2:p.Ser579Arg
NM_001353200.2:c.1566C>G	NP_001340129.1:p.Ser522Arg
NM_001374689.1:c.2010C>G	NP_001361618.1:p.Ser670Arg
NM_001374690.1:c.1803C>G	NP_001361619.1:p.Ser601Arg
NM_001374691.1:c.1671C>G	NP_001361620.1:p.Ser557Arg
NM_001374692.1:c.1671C>G	NP_001361621.1:p.Ser557Arg
NM_001374693.1:c.1671C>G	NP_001361622.1:p.Ser557Arg
NM_001374695.1:c.1632C>G	NP_001361624.1:p.Ser544Arg
NM_007171.4:c.2088C>G	NP_009102.4:p.Ser696Arg
NR_148391.2:n.2056C>G
NR_148392.2:n.2274C>G
NR_148393.2:n.2195C>G
NR_148394.2:n.1949C>G
NR_148395.2:n.2347C>G
NR_148396.2:n.1981C>G
NR_148397.2:n.2106C>G
NR_148398.2:n.2061C>G
NR_148399.2:n.2587C>G
NR_148400.2:n.2186C>G