Canonical Allele Identifier: CA467423833

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134396777C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131521390C>G , CM000671.2:g.131521390C>G	GRCh38
NC_000009.11:g.134396777C>G , CM000671.1:g.134396777C>G	GRCh37
NC_000009.10:g.133386598C>G	NCBI36
NG_008896.1:g.23489C>G
NG_008896.2:g.23489C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1581C>G	ENSP00000343034.7:p.Gly527=
ENST00000404875.7:n.2283C>G
ENST00000423007.6:c.1800C>G	ENSP00000404119.2:p.Gly600=
ENST00000677295.2:c.*2087C>G	ENSP00000504346.2:n.*2087C>G
ENST00000678264.2:c.*1926C>G	ENSP00000503157.2:n.*1926C>G
ENST00000682070.1:n.2208C>G
ENST00000682813.1:n.2147C>G
ENST00000683392.1:n.4490C>G
ENST00000683712.1:n.2148C>G
ENST00000683900.1:n.3643C>G
ENST00000684062.1:n.2409C>G
ENST00000684579.1:n.3589C>G
ENST00000684679.1:n.970C>G
ENST00000341012.12:c.1581C>G	ENSP00000343034.7:p.Gly527=
ENST00000372220.5:c.612C>G	ENSP00000361294.5:p.Gly204=
ENST00000372228.9:c.1809C>G	ENSP00000361302.3:p.Gly603=
ENST00000402686.8:c.1743C>G MANE Select	ENSP00000385797.4:p.Gly581=
ENST00000676640.1:c.1743C>G	ENSP00000503281.1:p.Gly581=
ENST00000676803.1:c.804C>G	ENSP00000503093.1:p.Gly268=
ENST00000676835.1:c.*958C>G	ENSP00000502911.1:n.*958C>G
ENST00000677029.1:c.1287C>G	ENSP00000502936.1:p.Gly429=
ENST00000677099.1:c.*1453C>G	ENSP00000504553.1:n.*1453C>G
ENST00000677216.1:c.1392C>G	ENSP00000503772.1:p.Gly464=
ENST00000677221.1:n.768C>G
ENST00000677295.1:c.*1120C>G	ENSP00000504346.1:n.*1120C>G
ENST00000677444.1:c.1688C>G
ENST00000677586.1:n.1110C>G
ENST00000677626.1:c.1392C>G	ENSP00000503552.1:p.Gly464=
ENST00000677853.1:c.*751C>G	ENSP00000503488.1:n.*751C>G
ENST00000678202.1:n.902C>G
ENST00000678264.1:c.*1120C>G	ENSP00000503157.1:n.*1120C>G
ENST00000678303.1:c.1653C>G	ENSP00000503696.1:p.Gly551=
ENST00000678366.1:c.*1992C>G	ENSP00000504353.1:n.*1992C>G
ENST00000678546.1:c.*1688C>G	ENSP00000503062.1:n.*1688C>G
ENST00000678548.1:c.*1815C>G	ENSP00000503934.1:n.*1815C>G
ENST00000678626.1:n.1579C>G
ENST00000678739.1:c.*2064C>G	ENSP00000503806.1:n.*2064C>G
ENST00000678833.1:c.*1495C>G	ENSP00000503893.1:n.*1495C>G
ENST00000679023.1:c.1581C>G	ENSP00000503718.1:p.Gly527=
ENST00000679076.1:c.1362C>G
ENST00000679111.1:c.*499C>G	ENSP00000504257.1:n.*499C>G
ENST00000679189.1:c.1392C>G	ENSP00000503356.1:p.Gly464=
ENST00000341012.11:c.1581C>G	ENSP00000343034.7:p.Gly527=
ENST00000372220.4:c.606C>G	ENSP00000361294.4:p.Gly202=
ENST00000372228.7:c.1809C>G	ENSP00000361302.3:p.Gly603=
ENST00000402686.7:c.1743C>G	ENSP00000385797.3:p.Gly581=
ENST00000404875.6:c.1392C>G	ENSP00000384531.2:p.Gly464=
ENST00000423007.5:c.1743C>G	ENSP00000404119.1:p.Gly581=
ENST00000467848.1:n.447C>G
ENST00000485278.5:n.2293C>G
ENST00000494883.1:n.286C>G
NM_001077365.1:c.1743C>G	NP_001070833.1:p.Gly581=
NM_001077366.1:c.1581C>G	NP_001070834.1:p.Gly527=
NM_001136113.1:c.1743C>G	NP_001129585.1:p.Gly581=
NM_001136114.1:c.1392C>G	NP_001129586.1:p.Gly464=
NM_007171.3:c.1809C>G	NP_009102.3:p.Gly603=
XM_005272156.1:c.1809C>G	XP_005272213.1:p.Gly603=
XM_005272158.1:c.1647C>G	XP_005272215.1:p.Gly549=
XM_005272159.1:c.1458C>G	XP_005272216.1:p.Gly486=
XM_005272162.1:c.612C>G	XP_005272219.1:p.Gly204=
XM_006716932.1:c.1458C>G	XP_006716995.1:p.Gly486=
XM_011518140.1:c.1662C>G	XP_011516442.1:p.Gly554=
XM_011518141.1:c.1596C>G	XP_011516443.1:p.Gly532=
XM_011518142.1:c.1500C>G	XP_011516444.1:p.Gly500=
XM_011518143.1:c.1494C>G	XP_011516445.1:p.Gly498=
XM_011518145.1:c.1353C>G	XP_011516447.1:p.Gly451=
XM_011518147.1:c.681C>G	XP_011516449.1:p.Gly227=
XR_929703.1:n.1985C>G
NM_001353193.1:c.1809C>G	NP_001340122.1:p.Gly603=
NM_001353194.1:c.1581C>G	NP_001340123.1:p.Gly527=
NM_001353195.1:c.1392C>G	NP_001340124.1:p.Gly464=
NM_001353196.1:c.1653C>G	NP_001340125.1:p.Gly551=
NM_001353197.1:c.1647C>G	NP_001340126.1:p.Gly549=
NM_001353198.1:c.1647C>G	NP_001340127.1:p.Gly549=
NM_001353199.1:c.1458C>G	NP_001340128.1:p.Gly486=
NM_001353200.1:c.1287C>G	NP_001340129.1:p.Gly429=
NR_148391.1:n.1793C>G
NR_148392.1:n.2011C>G
NR_148393.1:n.1932C>G
NR_148394.1:n.1686C>G
NR_148395.1:n.2084C>G
NR_148396.1:n.1718C>G
NR_148397.1:n.1843C>G
NR_148398.1:n.1798C>G
NR_148399.1:n.2324C>G
NR_148400.1:n.1923C>G
XM_005272162.3:c.612C>G	XP_005272219.1:p.Gly204=
XM_006716932.2:c.1458C>G	XP_006716995.1:p.Gly486=
XM_011518140.2:c.1662C>G	XP_011516442.1:p.Gly554=
XM_011518141.2:c.1596C>G	XP_011516443.1:p.Gly532=
XM_011518142.2:c.1500C>G	XP_011516444.1:p.Gly500=
XM_011518143.2:c.1494C>G	XP_011516445.1:p.Gly498=
XM_011518145.2:c.1353C>G	XP_011516447.1:p.Gly451=
XM_017014205.2:c.612C>G	XP_016869694.1:p.Gly204=
XM_024447380.1:c.612C>G	XP_024303148.1:p.Gly204=
XM_024447381.1:c.918C>G	XP_024303149.1:p.Gly306=
XM_024447382.1:c.612C>G	XP_024303150.1:p.Gly204=
XR_001746160.2:n.1913C>G
XR_001746162.2:n.2118C>G
XR_001746164.1:n.1835C>G
XR_001746166.2:n.2130C>G
NM_001077365.2:c.1743C>G MANE Select	NP_001070833.1:p.Gly581=
NM_001077366.2:c.1581C>G	NP_001070834.1:p.Gly527=
NM_001136113.2:c.1743C>G	NP_001129585.1:p.Gly581=
NM_001136114.2:c.1392C>G	NP_001129586.1:p.Gly464=
NM_001353193.2:c.1809C>G	NP_001340122.2:p.Gly603=
NM_001353194.2:c.1581C>G	NP_001340123.1:p.Gly527=
NM_001353195.2:c.1392C>G	NP_001340124.1:p.Gly464=
NM_001353196.2:c.1653C>G	NP_001340125.1:p.Gly551=
NM_001353197.2:c.1647C>G	NP_001340126.2:p.Gly549=
NM_001353198.2:c.1647C>G	NP_001340127.2:p.Gly549=
NM_001353199.2:c.1458C>G	NP_001340128.2:p.Gly486=
NM_001353200.2:c.1287C>G	NP_001340129.1:p.Gly429=
NM_001374689.1:c.1731C>G	NP_001361618.1:p.Gly577=
NM_001374690.1:c.1524C>G	NP_001361619.1:p.Gly508=
NM_001374691.1:c.1392C>G	NP_001361620.1:p.Gly464=
NM_001374692.1:c.1392C>G	NP_001361621.1:p.Gly464=
NM_001374693.1:c.1392C>G	NP_001361622.1:p.Gly464=
NM_001374695.1:c.1353C>G	NP_001361624.1:p.Gly451=
NM_007171.4:c.1809C>G	NP_009102.4:p.Gly603=
NR_148391.2:n.1777C>G
NR_148392.2:n.1995C>G
NR_148393.2:n.1916C>G
NR_148394.2:n.1670C>G
NR_148395.2:n.2068C>G
NR_148396.2:n.1702C>G
NR_148397.2:n.1827C>G
NR_148398.2:n.1782C>G
NR_148399.2:n.2308C>G
NR_148400.2:n.1907C>G