Canonical Allele Identifier: CA467424235

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134398454C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523067C>G , CM000671.2:g.131523067C>G	GRCh38
NC_000009.11:g.134398454C>G , CM000671.1:g.134398454C>G	GRCh37
NC_000009.10:g.133388275C>G	NCBI36
NG_008896.1:g.25166C>G
NG_008896.2:g.25166C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.1977C>G	ENSP00000343034.7:p.Arg659=
ENST00000404875.7:n.2679C>G
ENST00000423007.6:c.2196C>G	ENSP00000404119.2:p.Arg732=
ENST00000677295.2:c.*2483C>G	ENSP00000504346.2:n.*2483C>G
ENST00000678264.2:c.*2322C>G	ENSP00000503157.2:n.*2322C>G
ENST00000682070.1:n.2449C>G
ENST00000682639.1:c.136C>G
ENST00000682813.1:n.2536C>G
ENST00000683231.1:c.136C>G
ENST00000683392.1:n.4731C>G
ENST00000683712.1:n.2544C>G
ENST00000683900.1:n.4039C>G
ENST00000684062.1:n.2805C>G
ENST00000684399.1:c.136C>G
ENST00000684579.1:n.3985C>G
ENST00000341012.12:c.1977C>G	ENSP00000343034.7:p.Arg659=
ENST00000372220.5:c.1008C>G	ENSP00000361294.5:p.Arg336=
ENST00000372228.9:c.2205C>G	ENSP00000361302.3:p.Arg735=
ENST00000402686.8:c.2139C>G MANE Select	ENSP00000385797.4:p.Arg713=
ENST00000676640.1:c.2139C>G	ENSP00000503281.1:p.Arg713=
ENST00000676803.1:c.1200C>G	ENSP00000503093.1:p.Arg400=
ENST00000676835.1:c.*1354C>G	ENSP00000502911.1:n.*1354C>G
ENST00000677029.1:c.1683C>G	ENSP00000502936.1:p.Arg561=
ENST00000677099.1:c.*1849C>G	ENSP00000504553.1:n.*1849C>G
ENST00000677216.1:c.1788C>G	ENSP00000503772.1:p.Arg596=
ENST00000677295.1:c.*1361C>G	ENSP00000504346.1:n.*1361C>G
ENST00000677444.1:c.2084C>G
ENST00000677586.1:n.1506C>G
ENST00000677626.1:c.1788C>G	ENSP00000503552.1:p.Arg596=
ENST00000677853.1:c.*1147C>G	ENSP00000503488.1:n.*1147C>G
ENST00000678264.1:c.*1516C>G	ENSP00000503157.1:n.*1516C>G
ENST00000678303.1:c.2049C>G	ENSP00000503696.1:p.Arg683=
ENST00000678366.1:c.*2388C>G	ENSP00000504353.1:n.*2388C>G
ENST00000678546.1:c.*2084C>G	ENSP00000503062.1:n.*2084C>G
ENST00000678548.1:c.*2278C>G	ENSP00000503934.1:n.*2278C>G
ENST00000678626.1:n.1975C>G
ENST00000678739.1:c.*2305C>G	ENSP00000503806.1:n.*2305C>G
ENST00000678833.1:c.*1891C>G	ENSP00000503893.1:n.*1891C>G
ENST00000679023.1:c.1977C>G	ENSP00000503718.1:p.Arg659=
ENST00000679076.1:c.1758C>G
ENST00000679111.1:c.*895C>G	ENSP00000504257.1:n.*895C>G
ENST00000679189.1:c.1788C>G	ENSP00000503356.1:p.Arg596=
ENST00000341012.11:c.1977C>G	ENSP00000343034.7:p.Arg659=
ENST00000372220.4:c.1002C>G	ENSP00000361294.4:p.Arg334=
ENST00000372228.7:c.2205C>G	ENSP00000361302.3:p.Arg735=
ENST00000402686.7:c.2139C>G	ENSP00000385797.3:p.Arg713=
ENST00000404875.6:c.1788C>G	ENSP00000384531.2:p.Arg596=
ENST00000423007.5:c.2139C>G	ENSP00000404119.1:p.Arg713=
ENST00000485278.5:n.2689C>G
NM_001077365.1:c.2139C>G	NP_001070833.1:p.Arg713=
NM_001077366.1:c.1977C>G	NP_001070834.1:p.Arg659=
NM_001136113.1:c.2139C>G	NP_001129585.1:p.Arg713=
NM_001136114.1:c.1788C>G	NP_001129586.1:p.Arg596=
NM_007171.3:c.2205C>G	NP_009102.3:p.Arg735=
XM_005272156.1:c.2205C>G	XP_005272213.1:p.Arg735=
XM_005272158.1:c.2043C>G	XP_005272215.1:p.Arg681=
XM_005272159.1:c.1854C>G	XP_005272216.1:p.Arg618=
XM_005272162.1:c.1008C>G	XP_005272219.1:p.Arg336=
XM_006716932.1:c.1854C>G	XP_006716995.1:p.Arg618=
XM_011518140.1:c.2058C>G	XP_011516442.1:p.Arg686=
XM_011518141.1:c.1992C>G	XP_011516443.1:p.Arg664=
XM_011518142.1:c.1896C>G	XP_011516444.1:p.Arg632=
XM_011518143.1:c.1890C>G	XP_011516445.1:p.Arg630=
XM_011518145.1:c.1749C>G	XP_011516447.1:p.Arg583=
XM_011518147.1:c.1077C>G	XP_011516449.1:p.Arg359=
XR_929703.1:n.2381C>G
NM_001353193.1:c.2205C>G	NP_001340122.1:p.Arg735=
NM_001353194.1:c.1977C>G	NP_001340123.1:p.Arg659=
NM_001353195.1:c.1788C>G	NP_001340124.1:p.Arg596=
NM_001353196.1:c.2049C>G	NP_001340125.1:p.Arg683=
NM_001353197.1:c.2043C>G	NP_001340126.1:p.Arg681=
NM_001353198.1:c.2043C>G	NP_001340127.1:p.Arg681=
NM_001353199.1:c.1854C>G	NP_001340128.1:p.Arg618=
NM_001353200.1:c.1683C>G	NP_001340129.1:p.Arg561=
NR_148391.1:n.2189C>G
NR_148392.1:n.2407C>G
NR_148393.1:n.2328C>G
NR_148394.1:n.2082C>G
NR_148395.1:n.2480C>G
NR_148396.1:n.2114C>G
NR_148397.1:n.2239C>G
NR_148398.1:n.2194C>G
NR_148399.1:n.2720C>G
NR_148400.1:n.2319C>G
XM_005272162.3:c.1008C>G	XP_005272219.1:p.Arg336=
XM_006716932.2:c.1854C>G	XP_006716995.1:p.Arg618=
XM_011518140.2:c.2058C>G	XP_011516442.1:p.Arg686=
XM_011518141.2:c.1992C>G	XP_011516443.1:p.Arg664=
XM_011518142.2:c.1896C>G	XP_011516444.1:p.Arg632=
XM_011518143.2:c.1890C>G	XP_011516445.1:p.Arg630=
XM_011518145.2:c.1749C>G	XP_011516447.1:p.Arg583=
XM_017014205.2:c.1008C>G	XP_016869694.1:p.Arg336=
XM_024447380.1:c.1008C>G	XP_024303148.1:p.Arg336=
XM_024447381.1:c.1314C>G	XP_024303149.1:p.Arg438=
XM_024447382.1:c.1008C>G	XP_024303150.1:p.Arg336=
XR_001746160.2:n.2309C>G
XR_001746162.2:n.2514C>G
XR_001746164.1:n.2231C>G
XR_001746166.2:n.2526C>G
NM_001077365.2:c.2139C>G MANE Select	NP_001070833.1:p.Arg713=
NM_001077366.2:c.1977C>G	NP_001070834.1:p.Arg659=
NM_001136113.2:c.2139C>G	NP_001129585.1:p.Arg713=
NM_001136114.2:c.1788C>G	NP_001129586.1:p.Arg596=
NM_001353193.2:c.2205C>G	NP_001340122.2:p.Arg735=
NM_001353194.2:c.1977C>G	NP_001340123.1:p.Arg659=
NM_001353195.2:c.1788C>G	NP_001340124.1:p.Arg596=
NM_001353196.2:c.2049C>G	NP_001340125.1:p.Arg683=
NM_001353197.2:c.2043C>G	NP_001340126.2:p.Arg681=
NM_001353198.2:c.2043C>G	NP_001340127.2:p.Arg681=
NM_001353199.2:c.1854C>G	NP_001340128.2:p.Arg618=
NM_001353200.2:c.1683C>G	NP_001340129.1:p.Arg561=
NM_001374689.1:c.2127C>G	NP_001361618.1:p.Arg709=
NM_001374690.1:c.1920C>G	NP_001361619.1:p.Arg640=
NM_001374691.1:c.1788C>G	NP_001361620.1:p.Arg596=
NM_001374692.1:c.1788C>G	NP_001361621.1:p.Arg596=
NM_001374693.1:c.1788C>G	NP_001361622.1:p.Arg596=
NM_001374695.1:c.1749C>G	NP_001361624.1:p.Arg583=
NM_007171.4:c.2205C>G	NP_009102.4:p.Arg735=
NR_148391.2:n.2173C>G
NR_148392.2:n.2391C>G
NR_148393.2:n.2312C>G
NR_148394.2:n.2066C>G
NR_148395.2:n.2464C>G
NR_148396.2:n.2098C>G
NR_148397.2:n.2223C>G
NR_148398.2:n.2178C>G
NR_148399.2:n.2704C>G
NR_148400.2:n.2303C>G