Canonical Allele Identifier: CA375313667

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134396759A>G (hg19) ; chr9:g.131521372A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131521372A>G , CM000671.2:g.131521372A>G	GRCh38
NC_000009.11:g.134396759A>G , CM000671.1:g.134396759A>G	GRCh37
NC_000009.10:g.133386580A>G	NCBI36
NG_008896.1:g.23471A>G
NG_008896.2:g.23471A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1563A>G	ENSP00000343034.7:p.Ile521Met
ENST00000404875.7:n.2265A>G
ENST00000423007.6:c.1782A>G	ENSP00000404119.2:p.Ile594Met
ENST00000677295.2:c.*2069A>G	ENSP00000504346.2:n.*2069A>G
ENST00000678264.2:c.*1908A>G	ENSP00000503157.2:n.*1908A>G
ENST00000682070.1:n.2190A>G
ENST00000682813.1:n.2129A>G
ENST00000683392.1:n.4472A>G
ENST00000683712.1:n.2130A>G
ENST00000683900.1:n.3625A>G
ENST00000684062.1:n.2391A>G
ENST00000684579.1:n.3571A>G
ENST00000684679.1:n.952A>G
ENST00000341012.12:c.1563A>G	ENSP00000343034.7:p.Ile521Met
ENST00000372220.5:c.594A>G	ENSP00000361294.5:p.Ile198Met
ENST00000372228.9:c.1791A>G	ENSP00000361302.3:p.Ile597Met
ENST00000402686.8:c.1725A>G MANE Select	ENSP00000385797.4:p.Ile575Met
ENST00000676640.1:c.1725A>G	ENSP00000503281.1:p.Ile575Met
ENST00000676803.1:c.786A>G	ENSP00000503093.1:p.Ile262Met
ENST00000676835.1:c.*940A>G	ENSP00000502911.1:n.*940A>G
ENST00000677029.1:c.1269A>G	ENSP00000502936.1:p.Ile423Met
ENST00000677099.1:c.*1435A>G	ENSP00000504553.1:n.*1435A>G
ENST00000677216.1:c.1374A>G	ENSP00000503772.1:p.Ile458Met
ENST00000677221.1:n.750A>G
ENST00000677295.1:c.*1102A>G	ENSP00000504346.1:n.*1102A>G
ENST00000677444.1:c.1670A>G
ENST00000677586.1:n.1092A>G
ENST00000677626.1:c.1374A>G	ENSP00000503552.1:p.Ile458Met
ENST00000677853.1:c.*733A>G	ENSP00000503488.1:n.*733A>G
ENST00000678202.1:n.884A>G
ENST00000678264.1:c.*1102A>G	ENSP00000503157.1:n.*1102A>G
ENST00000678303.1:c.1635A>G	ENSP00000503696.1:p.Ile545Met
ENST00000678366.1:c.*1974A>G	ENSP00000504353.1:n.*1974A>G
ENST00000678546.1:c.*1670A>G	ENSP00000503062.1:n.*1670A>G
ENST00000678548.1:c.*1797A>G	ENSP00000503934.1:n.*1797A>G
ENST00000678626.1:n.1561A>G
ENST00000678739.1:c.*2046A>G	ENSP00000503806.1:n.*2046A>G
ENST00000678833.1:c.*1477A>G	ENSP00000503893.1:n.*1477A>G
ENST00000679023.1:c.1563A>G	ENSP00000503718.1:p.Ile521Met
ENST00000679076.1:c.1344A>G
ENST00000679111.1:c.*481A>G	ENSP00000504257.1:n.*481A>G
ENST00000679189.1:c.1374A>G	ENSP00000503356.1:p.Ile458Met
ENST00000341012.11:c.1563A>G	ENSP00000343034.7:p.Ile521Met
ENST00000372220.4:c.588A>G	ENSP00000361294.4:p.Ile196Met
ENST00000372228.7:c.1791A>G	ENSP00000361302.3:p.Ile597Met
ENST00000402686.7:c.1725A>G	ENSP00000385797.3:p.Ile575Met
ENST00000404875.6:c.1374A>G	ENSP00000384531.2:p.Ile458Met
ENST00000423007.5:c.1725A>G	ENSP00000404119.1:p.Ile575Met
ENST00000467848.1:n.429A>G
ENST00000485278.5:n.2275A>G
ENST00000494883.1:n.268A>G
NM_001077365.1:c.1725A>G	NP_001070833.1:p.Ile575Met
NM_001077366.1:c.1563A>G	NP_001070834.1:p.Ile521Met
NM_001136113.1:c.1725A>G	NP_001129585.1:p.Ile575Met
NM_001136114.1:c.1374A>G	NP_001129586.1:p.Ile458Met
NM_007171.3:c.1791A>G	NP_009102.3:p.Ile597Met
XM_005272156.1:c.1791A>G	XP_005272213.1:p.Ile597Met
XM_005272158.1:c.1629A>G	XP_005272215.1:p.Ile543Met
XM_005272159.1:c.1440A>G	XP_005272216.1:p.Ile480Met
XM_005272162.1:c.594A>G	XP_005272219.1:p.Ile198Met
XM_006716932.1:c.1440A>G	XP_006716995.1:p.Ile480Met
XM_011518140.1:c.1644A>G	XP_011516442.1:p.Ile548Met
XM_011518141.1:c.1578A>G	XP_011516443.1:p.Ile526Met
XM_011518142.1:c.1482A>G	XP_011516444.1:p.Ile494Met
XM_011518143.1:c.1476A>G	XP_011516445.1:p.Ile492Met
XM_011518145.1:c.1335A>G	XP_011516447.1:p.Ile445Met
XM_011518147.1:c.663A>G	XP_011516449.1:p.Ile221Met
XR_929703.1:n.1967A>G
NM_001353193.1:c.1791A>G	NP_001340122.1:p.Ile597Met
NM_001353194.1:c.1563A>G	NP_001340123.1:p.Ile521Met
NM_001353195.1:c.1374A>G	NP_001340124.1:p.Ile458Met
NM_001353196.1:c.1635A>G	NP_001340125.1:p.Ile545Met
NM_001353197.1:c.1629A>G	NP_001340126.1:p.Ile543Met
NM_001353198.1:c.1629A>G	NP_001340127.1:p.Ile543Met
NM_001353199.1:c.1440A>G	NP_001340128.1:p.Ile480Met
NM_001353200.1:c.1269A>G	NP_001340129.1:p.Ile423Met
NR_148391.1:n.1775A>G
NR_148392.1:n.1993A>G
NR_148393.1:n.1914A>G
NR_148394.1:n.1668A>G
NR_148395.1:n.2066A>G
NR_148396.1:n.1700A>G
NR_148397.1:n.1825A>G
NR_148398.1:n.1780A>G
NR_148399.1:n.2306A>G
NR_148400.1:n.1905A>G
XM_005272162.3:c.594A>G	XP_005272219.1:p.Ile198Met
XM_006716932.2:c.1440A>G	XP_006716995.1:p.Ile480Met
XM_011518140.2:c.1644A>G	XP_011516442.1:p.Ile548Met
XM_011518141.2:c.1578A>G	XP_011516443.1:p.Ile526Met
XM_011518142.2:c.1482A>G	XP_011516444.1:p.Ile494Met
XM_011518143.2:c.1476A>G	XP_011516445.1:p.Ile492Met
XM_011518145.2:c.1335A>G	XP_011516447.1:p.Ile445Met
XM_017014205.2:c.594A>G	XP_016869694.1:p.Ile198Met
XM_024447380.1:c.594A>G	XP_024303148.1:p.Ile198Met
XM_024447381.1:c.900A>G	XP_024303149.1:p.Ile300Met
XM_024447382.1:c.594A>G	XP_024303150.1:p.Ile198Met
XR_001746160.2:n.1895A>G
XR_001746162.2:n.2100A>G
XR_001746164.1:n.1817A>G
XR_001746166.2:n.2112A>G
NM_001077365.2:c.1725A>G MANE Select	NP_001070833.1:p.Ile575Met
NM_001077366.2:c.1563A>G	NP_001070834.1:p.Ile521Met
NM_001136113.2:c.1725A>G	NP_001129585.1:p.Ile575Met
NM_001136114.2:c.1374A>G	NP_001129586.1:p.Ile458Met
NM_001353193.2:c.1791A>G	NP_001340122.2:p.Ile597Met
NM_001353194.2:c.1563A>G	NP_001340123.1:p.Ile521Met
NM_001353195.2:c.1374A>G	NP_001340124.1:p.Ile458Met
NM_001353196.2:c.1635A>G	NP_001340125.1:p.Ile545Met
NM_001353197.2:c.1629A>G	NP_001340126.2:p.Ile543Met
NM_001353198.2:c.1629A>G	NP_001340127.2:p.Ile543Met
NM_001353199.2:c.1440A>G	NP_001340128.2:p.Ile480Met
NM_001353200.2:c.1269A>G	NP_001340129.1:p.Ile423Met
NM_001374689.1:c.1713A>G	NP_001361618.1:p.Ile571Met
NM_001374690.1:c.1506A>G	NP_001361619.1:p.Ile502Met
NM_001374691.1:c.1374A>G	NP_001361620.1:p.Ile458Met
NM_001374692.1:c.1374A>G	NP_001361621.1:p.Ile458Met
NM_001374693.1:c.1374A>G	NP_001361622.1:p.Ile458Met
NM_001374695.1:c.1335A>G	NP_001361624.1:p.Ile445Met
NM_007171.4:c.1791A>G	NP_009102.4:p.Ile597Met
NR_148391.2:n.1759A>G
NR_148392.2:n.1977A>G
NR_148393.2:n.1898A>G
NR_148394.2:n.1652A>G
NR_148395.2:n.2050A>G
NR_148396.2:n.1684A>G
NR_148397.2:n.1809A>G
NR_148398.2:n.1764A>G
NR_148399.2:n.2290A>G
NR_148400.2:n.1889A>G