Canonical Allele Identifier: CA375313944

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134396835A>G (hg19) ; chr9:g.131521448A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131521448A>G , CM000671.2:g.131521448A>G	GRCh38
NC_000009.11:g.134396835A>G , CM000671.1:g.134396835A>G	GRCh37
NC_000009.10:g.133386656A>G	NCBI36
NG_008896.1:g.23547A>G
NG_008896.2:g.23547A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1639A>G	ENSP00000343034.7:p.Arg547Gly
ENST00000404875.7:n.2341A>G
ENST00000423007.6:c.1858A>G	ENSP00000404119.2:p.Arg620Gly
ENST00000677295.2:c.*2145A>G	ENSP00000504346.2:n.*2145A>G
ENST00000678264.2:c.*1984A>G	ENSP00000503157.2:n.*1984A>G
ENST00000682070.1:n.2266A>G
ENST00000682813.1:n.2205A>G
ENST00000683392.1:n.4548A>G
ENST00000683712.1:n.2206A>G
ENST00000683900.1:n.3701A>G
ENST00000684062.1:n.2467A>G
ENST00000684579.1:n.3647A>G
ENST00000684679.1:n.1028A>G
ENST00000341012.12:c.1639A>G	ENSP00000343034.7:p.Arg547Gly
ENST00000372220.5:c.670A>G	ENSP00000361294.5:p.Arg224Gly
ENST00000372228.9:c.1867A>G	ENSP00000361302.3:p.Arg623Gly
ENST00000402686.8:c.1801A>G MANE Select	ENSP00000385797.4:p.Arg601Gly
ENST00000676640.1:c.1801A>G	ENSP00000503281.1:p.Arg601Gly
ENST00000676803.1:c.862A>G	ENSP00000503093.1:p.Arg288Gly
ENST00000676835.1:c.*1016A>G	ENSP00000502911.1:n.*1016A>G
ENST00000677029.1:c.1345A>G	ENSP00000502936.1:p.Arg449Gly
ENST00000677099.1:c.*1511A>G	ENSP00000504553.1:n.*1511A>G
ENST00000677216.1:c.1450A>G	ENSP00000503772.1:p.Arg484Gly
ENST00000677221.1:n.826A>G
ENST00000677295.1:c.*1178A>G	ENSP00000504346.1:n.*1178A>G
ENST00000677444.1:c.1746A>G
ENST00000677586.1:n.1168A>G
ENST00000677626.1:c.1450A>G	ENSP00000503552.1:p.Arg484Gly
ENST00000677853.1:c.*809A>G	ENSP00000503488.1:n.*809A>G
ENST00000678202.1:n.960A>G
ENST00000678264.1:c.*1178A>G	ENSP00000503157.1:n.*1178A>G
ENST00000678303.1:c.1711A>G	ENSP00000503696.1:p.Arg571Gly
ENST00000678366.1:c.*2050A>G	ENSP00000504353.1:n.*2050A>G
ENST00000678546.1:c.*1746A>G	ENSP00000503062.1:n.*1746A>G
ENST00000678548.1:c.*1873A>G	ENSP00000503934.1:n.*1873A>G
ENST00000678626.1:n.1637A>G
ENST00000678739.1:c.*2122A>G	ENSP00000503806.1:n.*2122A>G
ENST00000678833.1:c.*1553A>G	ENSP00000503893.1:n.*1553A>G
ENST00000679023.1:c.1639A>G	ENSP00000503718.1:p.Arg547Gly
ENST00000679076.1:c.1420A>G
ENST00000679111.1:c.*557A>G	ENSP00000504257.1:n.*557A>G
ENST00000679189.1:c.1450A>G	ENSP00000503356.1:p.Arg484Gly
ENST00000341012.11:c.1639A>G	ENSP00000343034.7:p.Arg547Gly
ENST00000372220.4:c.664A>G	ENSP00000361294.4:p.Arg222Gly
ENST00000372228.7:c.1867A>G	ENSP00000361302.3:p.Arg623Gly
ENST00000402686.7:c.1801A>G	ENSP00000385797.3:p.Arg601Gly
ENST00000404875.6:c.1450A>G	ENSP00000384531.2:p.Arg484Gly
ENST00000423007.5:c.1801A>G	ENSP00000404119.1:p.Arg601Gly
ENST00000485278.5:n.2351A>G
ENST00000494883.1:n.344A>G
NM_001077365.1:c.1801A>G	NP_001070833.1:p.Arg601Gly
NM_001077366.1:c.1639A>G	NP_001070834.1:p.Arg547Gly
NM_001136113.1:c.1801A>G	NP_001129585.1:p.Arg601Gly
NM_001136114.1:c.1450A>G	NP_001129586.1:p.Arg484Gly
NM_007171.3:c.1867A>G	NP_009102.3:p.Arg623Gly
XM_005272156.1:c.1867A>G	XP_005272213.1:p.Arg623Gly
XM_005272158.1:c.1705A>G	XP_005272215.1:p.Arg569Gly
XM_005272159.1:c.1516A>G	XP_005272216.1:p.Arg506Gly
XM_005272162.1:c.670A>G	XP_005272219.1:p.Arg224Gly
XM_006716932.1:c.1516A>G	XP_006716995.1:p.Arg506Gly
XM_011518140.1:c.1720A>G	XP_011516442.1:p.Arg574Gly
XM_011518141.1:c.1654A>G	XP_011516443.1:p.Arg552Gly
XM_011518142.1:c.1558A>G	XP_011516444.1:p.Arg520Gly
XM_011518143.1:c.1552A>G	XP_011516445.1:p.Arg518Gly
XM_011518145.1:c.1411A>G	XP_011516447.1:p.Arg471Gly
XM_011518147.1:c.739A>G	XP_011516449.1:p.Arg247Gly
XR_929703.1:n.2043A>G
NM_001353193.1:c.1867A>G	NP_001340122.1:p.Arg623Gly
NM_001353194.1:c.1639A>G	NP_001340123.1:p.Arg547Gly
NM_001353195.1:c.1450A>G	NP_001340124.1:p.Arg484Gly
NM_001353196.1:c.1711A>G	NP_001340125.1:p.Arg571Gly
NM_001353197.1:c.1705A>G	NP_001340126.1:p.Arg569Gly
NM_001353198.1:c.1705A>G	NP_001340127.1:p.Arg569Gly
NM_001353199.1:c.1516A>G	NP_001340128.1:p.Arg506Gly
NM_001353200.1:c.1345A>G	NP_001340129.1:p.Arg449Gly
NR_148391.1:n.1851A>G
NR_148392.1:n.2069A>G
NR_148393.1:n.1990A>G
NR_148394.1:n.1744A>G
NR_148395.1:n.2142A>G
NR_148396.1:n.1776A>G
NR_148397.1:n.1901A>G
NR_148398.1:n.1856A>G
NR_148399.1:n.2382A>G
NR_148400.1:n.1981A>G
XM_005272162.3:c.670A>G	XP_005272219.1:p.Arg224Gly
XM_006716932.2:c.1516A>G	XP_006716995.1:p.Arg506Gly
XM_011518140.2:c.1720A>G	XP_011516442.1:p.Arg574Gly
XM_011518141.2:c.1654A>G	XP_011516443.1:p.Arg552Gly
XM_011518142.2:c.1558A>G	XP_011516444.1:p.Arg520Gly
XM_011518143.2:c.1552A>G	XP_011516445.1:p.Arg518Gly
XM_011518145.2:c.1411A>G	XP_011516447.1:p.Arg471Gly
XM_017014205.2:c.670A>G	XP_016869694.1:p.Arg224Gly
XM_024447380.1:c.670A>G	XP_024303148.1:p.Arg224Gly
XM_024447381.1:c.976A>G	XP_024303149.1:p.Arg326Gly
XM_024447382.1:c.670A>G	XP_024303150.1:p.Arg224Gly
XR_001746160.2:n.1971A>G
XR_001746162.2:n.2176A>G
XR_001746164.1:n.1893A>G
XR_001746166.2:n.2188A>G
NM_001077365.2:c.1801A>G MANE Select	NP_001070833.1:p.Arg601Gly
NM_001077366.2:c.1639A>G	NP_001070834.1:p.Arg547Gly
NM_001136113.2:c.1801A>G	NP_001129585.1:p.Arg601Gly
NM_001136114.2:c.1450A>G	NP_001129586.1:p.Arg484Gly
NM_001353193.2:c.1867A>G	NP_001340122.2:p.Arg623Gly
NM_001353194.2:c.1639A>G	NP_001340123.1:p.Arg547Gly
NM_001353195.2:c.1450A>G	NP_001340124.1:p.Arg484Gly
NM_001353196.2:c.1711A>G	NP_001340125.1:p.Arg571Gly
NM_001353197.2:c.1705A>G	NP_001340126.2:p.Arg569Gly
NM_001353198.2:c.1705A>G	NP_001340127.2:p.Arg569Gly
NM_001353199.2:c.1516A>G	NP_001340128.2:p.Arg506Gly
NM_001353200.2:c.1345A>G	NP_001340129.1:p.Arg449Gly
NM_001374689.1:c.1789A>G	NP_001361618.1:p.Arg597Gly
NM_001374690.1:c.1582A>G	NP_001361619.1:p.Arg528Gly
NM_001374691.1:c.1450A>G	NP_001361620.1:p.Arg484Gly
NM_001374692.1:c.1450A>G	NP_001361621.1:p.Arg484Gly
NM_001374693.1:c.1450A>G	NP_001361622.1:p.Arg484Gly
NM_001374695.1:c.1411A>G	NP_001361624.1:p.Arg471Gly
NM_007171.4:c.1867A>G	NP_009102.4:p.Arg623Gly
NR_148391.2:n.1835A>G
NR_148392.2:n.2053A>G
NR_148393.2:n.1974A>G
NR_148394.2:n.1728A>G
NR_148395.2:n.2126A>G
NR_148396.2:n.1760A>G
NR_148397.2:n.1885A>G
NR_148398.2:n.1840A>G
NR_148399.2:n.2366A>G
NR_148400.2:n.1965A>G