Canonical Allele Identifier: CA467423818

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134396753A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131521366A>G , CM000671.2:g.131521366A>G	GRCh38
NC_000009.11:g.134396753A>G , CM000671.1:g.134396753A>G	GRCh37
NC_000009.10:g.133386574A>G	NCBI36
NG_008896.1:g.23465A>G
NG_008896.2:g.23465A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1557A>G	ENSP00000343034.7:p.Gly519=
ENST00000404875.7:n.2259A>G
ENST00000423007.6:c.1776A>G	ENSP00000404119.2:p.Gly592=
ENST00000677295.2:c.*2063A>G	ENSP00000504346.2:n.*2063A>G
ENST00000678264.2:c.*1902A>G	ENSP00000503157.2:n.*1902A>G
ENST00000682070.1:n.2184A>G
ENST00000682813.1:n.2123A>G
ENST00000683392.1:n.4466A>G
ENST00000683712.1:n.2124A>G
ENST00000683900.1:n.3619A>G
ENST00000684062.1:n.2385A>G
ENST00000684579.1:n.3565A>G
ENST00000684679.1:n.946A>G
ENST00000341012.12:c.1557A>G	ENSP00000343034.7:p.Gly519=
ENST00000372220.5:c.588A>G	ENSP00000361294.5:p.Gly196=
ENST00000372228.9:c.1785A>G	ENSP00000361302.3:p.Gly595=
ENST00000402686.8:c.1719A>G MANE Select	ENSP00000385797.4:p.Gly573=
ENST00000676640.1:c.1719A>G	ENSP00000503281.1:p.Gly573=
ENST00000676803.1:c.780A>G	ENSP00000503093.1:p.Gly260=
ENST00000676835.1:c.*934A>G	ENSP00000502911.1:n.*934A>G
ENST00000677029.1:c.1263A>G	ENSP00000502936.1:p.Gly421=
ENST00000677099.1:c.*1429A>G	ENSP00000504553.1:n.*1429A>G
ENST00000677216.1:c.1368A>G	ENSP00000503772.1:p.Gly456=
ENST00000677221.1:n.744A>G
ENST00000677295.1:c.*1096A>G	ENSP00000504346.1:n.*1096A>G
ENST00000677444.1:c.1664A>G
ENST00000677586.1:n.1086A>G
ENST00000677626.1:c.1368A>G	ENSP00000503552.1:p.Gly456=
ENST00000677853.1:c.*727A>G	ENSP00000503488.1:n.*727A>G
ENST00000678202.1:n.878A>G
ENST00000678264.1:c.*1096A>G	ENSP00000503157.1:n.*1096A>G
ENST00000678303.1:c.1629A>G	ENSP00000503696.1:p.Gly543=
ENST00000678366.1:c.*1968A>G	ENSP00000504353.1:n.*1968A>G
ENST00000678546.1:c.*1664A>G	ENSP00000503062.1:n.*1664A>G
ENST00000678548.1:c.*1791A>G	ENSP00000503934.1:n.*1791A>G
ENST00000678626.1:n.1555A>G
ENST00000678739.1:c.*2040A>G	ENSP00000503806.1:n.*2040A>G
ENST00000678833.1:c.*1471A>G	ENSP00000503893.1:n.*1471A>G
ENST00000679023.1:c.1557A>G	ENSP00000503718.1:p.Gly519=
ENST00000679076.1:c.1338A>G
ENST00000679111.1:c.*475A>G	ENSP00000504257.1:n.*475A>G
ENST00000679189.1:c.1368A>G	ENSP00000503356.1:p.Gly456=
ENST00000341012.11:c.1557A>G	ENSP00000343034.7:p.Gly519=
ENST00000372220.4:c.582A>G	ENSP00000361294.4:p.Gly194=
ENST00000372228.7:c.1785A>G	ENSP00000361302.3:p.Gly595=
ENST00000402686.7:c.1719A>G	ENSP00000385797.3:p.Gly573=
ENST00000404875.6:c.1368A>G	ENSP00000384531.2:p.Gly456=
ENST00000423007.5:c.1719A>G	ENSP00000404119.1:p.Gly573=
ENST00000467848.1:n.423A>G
ENST00000485278.5:n.2269A>G
ENST00000494883.1:n.262A>G
NM_001077365.1:c.1719A>G	NP_001070833.1:p.Gly573=
NM_001077366.1:c.1557A>G	NP_001070834.1:p.Gly519=
NM_001136113.1:c.1719A>G	NP_001129585.1:p.Gly573=
NM_001136114.1:c.1368A>G	NP_001129586.1:p.Gly456=
NM_007171.3:c.1785A>G	NP_009102.3:p.Gly595=
XM_005272156.1:c.1785A>G	XP_005272213.1:p.Gly595=
XM_005272158.1:c.1623A>G	XP_005272215.1:p.Gly541=
XM_005272159.1:c.1434A>G	XP_005272216.1:p.Gly478=
XM_005272162.1:c.588A>G	XP_005272219.1:p.Gly196=
XM_006716932.1:c.1434A>G	XP_006716995.1:p.Gly478=
XM_011518140.1:c.1638A>G	XP_011516442.1:p.Gly546=
XM_011518141.1:c.1572A>G	XP_011516443.1:p.Gly524=
XM_011518142.1:c.1476A>G	XP_011516444.1:p.Gly492=
XM_011518143.1:c.1470A>G	XP_011516445.1:p.Gly490=
XM_011518145.1:c.1329A>G	XP_011516447.1:p.Gly443=
XM_011518147.1:c.657A>G	XP_011516449.1:p.Gly219=
XR_929703.1:n.1961A>G
NM_001353193.1:c.1785A>G	NP_001340122.1:p.Gly595=
NM_001353194.1:c.1557A>G	NP_001340123.1:p.Gly519=
NM_001353195.1:c.1368A>G	NP_001340124.1:p.Gly456=
NM_001353196.1:c.1629A>G	NP_001340125.1:p.Gly543=
NM_001353197.1:c.1623A>G	NP_001340126.1:p.Gly541=
NM_001353198.1:c.1623A>G	NP_001340127.1:p.Gly541=
NM_001353199.1:c.1434A>G	NP_001340128.1:p.Gly478=
NM_001353200.1:c.1263A>G	NP_001340129.1:p.Gly421=
NR_148391.1:n.1769A>G
NR_148392.1:n.1987A>G
NR_148393.1:n.1908A>G
NR_148394.1:n.1662A>G
NR_148395.1:n.2060A>G
NR_148396.1:n.1694A>G
NR_148397.1:n.1819A>G
NR_148398.1:n.1774A>G
NR_148399.1:n.2300A>G
NR_148400.1:n.1899A>G
XM_005272162.3:c.588A>G	XP_005272219.1:p.Gly196=
XM_006716932.2:c.1434A>G	XP_006716995.1:p.Gly478=
XM_011518140.2:c.1638A>G	XP_011516442.1:p.Gly546=
XM_011518141.2:c.1572A>G	XP_011516443.1:p.Gly524=
XM_011518142.2:c.1476A>G	XP_011516444.1:p.Gly492=
XM_011518143.2:c.1470A>G	XP_011516445.1:p.Gly490=
XM_011518145.2:c.1329A>G	XP_011516447.1:p.Gly443=
XM_017014205.2:c.588A>G	XP_016869694.1:p.Gly196=
XM_024447380.1:c.588A>G	XP_024303148.1:p.Gly196=
XM_024447381.1:c.894A>G	XP_024303149.1:p.Gly298=
XM_024447382.1:c.588A>G	XP_024303150.1:p.Gly196=
XR_001746160.2:n.1889A>G
XR_001746162.2:n.2094A>G
XR_001746164.1:n.1811A>G
XR_001746166.2:n.2106A>G
NM_001077365.2:c.1719A>G MANE Select	NP_001070833.1:p.Gly573=
NM_001077366.2:c.1557A>G	NP_001070834.1:p.Gly519=
NM_001136113.2:c.1719A>G	NP_001129585.1:p.Gly573=
NM_001136114.2:c.1368A>G	NP_001129586.1:p.Gly456=
NM_001353193.2:c.1785A>G	NP_001340122.2:p.Gly595=
NM_001353194.2:c.1557A>G	NP_001340123.1:p.Gly519=
NM_001353195.2:c.1368A>G	NP_001340124.1:p.Gly456=
NM_001353196.2:c.1629A>G	NP_001340125.1:p.Gly543=
NM_001353197.2:c.1623A>G	NP_001340126.2:p.Gly541=
NM_001353198.2:c.1623A>G	NP_001340127.2:p.Gly541=
NM_001353199.2:c.1434A>G	NP_001340128.2:p.Gly478=
NM_001353200.2:c.1263A>G	NP_001340129.1:p.Gly421=
NM_001374689.1:c.1707A>G	NP_001361618.1:p.Gly569=
NM_001374690.1:c.1500A>G	NP_001361619.1:p.Gly500=
NM_001374691.1:c.1368A>G	NP_001361620.1:p.Gly456=
NM_001374692.1:c.1368A>G	NP_001361621.1:p.Gly456=
NM_001374693.1:c.1368A>G	NP_001361622.1:p.Gly456=
NM_001374695.1:c.1329A>G	NP_001361624.1:p.Gly443=
NM_007171.4:c.1785A>G	NP_009102.4:p.Gly595=
NR_148391.2:n.1753A>G
NR_148392.2:n.1971A>G
NR_148393.2:n.1892A>G
NR_148394.2:n.1646A>G
NR_148395.2:n.2044A>G
NR_148396.2:n.1678A>G
NR_148397.2:n.1803A>G
NR_148398.2:n.1758A>G
NR_148399.2:n.2284A>G
NR_148400.2:n.1883A>G