Canonical Allele Identifier: CA467423875

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134396831G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131521444G>C , CM000671.2:g.131521444G>C	GRCh38
NC_000009.11:g.134396831G>C , CM000671.1:g.134396831G>C	GRCh37
NC_000009.10:g.133386652G>C	NCBI36
NG_008896.1:g.23543G>C
NG_008896.2:g.23543G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1635G>C	ENSP00000343034.7:p.Arg545=
ENST00000404875.7:n.2337G>C
ENST00000423007.6:c.1854G>C	ENSP00000404119.2:p.Arg618=
ENST00000677295.2:c.*2141G>C	ENSP00000504346.2:n.*2141G>C
ENST00000678264.2:c.*1980G>C	ENSP00000503157.2:n.*1980G>C
ENST00000682070.1:n.2262G>C
ENST00000682813.1:n.2201G>C
ENST00000683392.1:n.4544G>C
ENST00000683712.1:n.2202G>C
ENST00000683900.1:n.3697G>C
ENST00000684062.1:n.2463G>C
ENST00000684579.1:n.3643G>C
ENST00000684679.1:n.1024G>C
ENST00000341012.12:c.1635G>C	ENSP00000343034.7:p.Arg545=
ENST00000372220.5:c.666G>C	ENSP00000361294.5:p.Arg222=
ENST00000372228.9:c.1863G>C	ENSP00000361302.3:p.Arg621=
ENST00000402686.8:c.1797G>C MANE Select	ENSP00000385797.4:p.Arg599=
ENST00000676640.1:c.1797G>C	ENSP00000503281.1:p.Arg599=
ENST00000676803.1:c.858G>C	ENSP00000503093.1:p.Arg286=
ENST00000676835.1:c.*1012G>C	ENSP00000502911.1:n.*1012G>C
ENST00000677029.1:c.1341G>C	ENSP00000502936.1:p.Arg447=
ENST00000677099.1:c.*1507G>C	ENSP00000504553.1:n.*1507G>C
ENST00000677216.1:c.1446G>C	ENSP00000503772.1:p.Arg482=
ENST00000677221.1:n.822G>C
ENST00000677295.1:c.*1174G>C	ENSP00000504346.1:n.*1174G>C
ENST00000677444.1:c.1742G>C
ENST00000677586.1:n.1164G>C
ENST00000677626.1:c.1446G>C	ENSP00000503552.1:p.Arg482=
ENST00000677853.1:c.*805G>C	ENSP00000503488.1:n.*805G>C
ENST00000678202.1:n.956G>C
ENST00000678264.1:c.*1174G>C	ENSP00000503157.1:n.*1174G>C
ENST00000678303.1:c.1707G>C	ENSP00000503696.1:p.Arg569=
ENST00000678366.1:c.*2046G>C	ENSP00000504353.1:n.*2046G>C
ENST00000678546.1:c.*1742G>C	ENSP00000503062.1:n.*1742G>C
ENST00000678548.1:c.*1869G>C	ENSP00000503934.1:n.*1869G>C
ENST00000678626.1:n.1633G>C
ENST00000678739.1:c.*2118G>C	ENSP00000503806.1:n.*2118G>C
ENST00000678833.1:c.*1549G>C	ENSP00000503893.1:n.*1549G>C
ENST00000679023.1:c.1635G>C	ENSP00000503718.1:p.Arg545=
ENST00000679076.1:c.1416G>C
ENST00000679111.1:c.*553G>C	ENSP00000504257.1:n.*553G>C
ENST00000679189.1:c.1446G>C	ENSP00000503356.1:p.Arg482=
ENST00000341012.11:c.1635G>C	ENSP00000343034.7:p.Arg545=
ENST00000372220.4:c.660G>C	ENSP00000361294.4:p.Arg220=
ENST00000372228.7:c.1863G>C	ENSP00000361302.3:p.Arg621=
ENST00000402686.7:c.1797G>C	ENSP00000385797.3:p.Arg599=
ENST00000404875.6:c.1446G>C	ENSP00000384531.2:p.Arg482=
ENST00000423007.5:c.1797G>C	ENSP00000404119.1:p.Arg599=
ENST00000485278.5:n.2347G>C
ENST00000494883.1:n.340G>C
NM_001077365.1:c.1797G>C	NP_001070833.1:p.Arg599=
NM_001077366.1:c.1635G>C	NP_001070834.1:p.Arg545=
NM_001136113.1:c.1797G>C	NP_001129585.1:p.Arg599=
NM_001136114.1:c.1446G>C	NP_001129586.1:p.Arg482=
NM_007171.3:c.1863G>C	NP_009102.3:p.Arg621=
XM_005272156.1:c.1863G>C	XP_005272213.1:p.Arg621=
XM_005272158.1:c.1701G>C	XP_005272215.1:p.Arg567=
XM_005272159.1:c.1512G>C	XP_005272216.1:p.Arg504=
XM_005272162.1:c.666G>C	XP_005272219.1:p.Arg222=
XM_006716932.1:c.1512G>C	XP_006716995.1:p.Arg504=
XM_011518140.1:c.1716G>C	XP_011516442.1:p.Arg572=
XM_011518141.1:c.1650G>C	XP_011516443.1:p.Arg550=
XM_011518142.1:c.1554G>C	XP_011516444.1:p.Arg518=
XM_011518143.1:c.1548G>C	XP_011516445.1:p.Arg516=
XM_011518145.1:c.1407G>C	XP_011516447.1:p.Arg469=
XM_011518147.1:c.735G>C	XP_011516449.1:p.Arg245=
XR_929703.1:n.2039G>C
NM_001353193.1:c.1863G>C	NP_001340122.1:p.Arg621=
NM_001353194.1:c.1635G>C	NP_001340123.1:p.Arg545=
NM_001353195.1:c.1446G>C	NP_001340124.1:p.Arg482=
NM_001353196.1:c.1707G>C	NP_001340125.1:p.Arg569=
NM_001353197.1:c.1701G>C	NP_001340126.1:p.Arg567=
NM_001353198.1:c.1701G>C	NP_001340127.1:p.Arg567=
NM_001353199.1:c.1512G>C	NP_001340128.1:p.Arg504=
NM_001353200.1:c.1341G>C	NP_001340129.1:p.Arg447=
NR_148391.1:n.1847G>C
NR_148392.1:n.2065G>C
NR_148393.1:n.1986G>C
NR_148394.1:n.1740G>C
NR_148395.1:n.2138G>C
NR_148396.1:n.1772G>C
NR_148397.1:n.1897G>C
NR_148398.1:n.1852G>C
NR_148399.1:n.2378G>C
NR_148400.1:n.1977G>C
XM_005272162.3:c.666G>C	XP_005272219.1:p.Arg222=
XM_006716932.2:c.1512G>C	XP_006716995.1:p.Arg504=
XM_011518140.2:c.1716G>C	XP_011516442.1:p.Arg572=
XM_011518141.2:c.1650G>C	XP_011516443.1:p.Arg550=
XM_011518142.2:c.1554G>C	XP_011516444.1:p.Arg518=
XM_011518143.2:c.1548G>C	XP_011516445.1:p.Arg516=
XM_011518145.2:c.1407G>C	XP_011516447.1:p.Arg469=
XM_017014205.2:c.666G>C	XP_016869694.1:p.Arg222=
XM_024447380.1:c.666G>C	XP_024303148.1:p.Arg222=
XM_024447381.1:c.972G>C	XP_024303149.1:p.Arg324=
XM_024447382.1:c.666G>C	XP_024303150.1:p.Arg222=
XR_001746160.2:n.1967G>C
XR_001746162.2:n.2172G>C
XR_001746164.1:n.1889G>C
XR_001746166.2:n.2184G>C
NM_001077365.2:c.1797G>C MANE Select	NP_001070833.1:p.Arg599=
NM_001077366.2:c.1635G>C	NP_001070834.1:p.Arg545=
NM_001136113.2:c.1797G>C	NP_001129585.1:p.Arg599=
NM_001136114.2:c.1446G>C	NP_001129586.1:p.Arg482=
NM_001353193.2:c.1863G>C	NP_001340122.2:p.Arg621=
NM_001353194.2:c.1635G>C	NP_001340123.1:p.Arg545=
NM_001353195.2:c.1446G>C	NP_001340124.1:p.Arg482=
NM_001353196.2:c.1707G>C	NP_001340125.1:p.Arg569=
NM_001353197.2:c.1701G>C	NP_001340126.2:p.Arg567=
NM_001353198.2:c.1701G>C	NP_001340127.2:p.Arg567=
NM_001353199.2:c.1512G>C	NP_001340128.2:p.Arg504=
NM_001353200.2:c.1341G>C	NP_001340129.1:p.Arg447=
NM_001374689.1:c.1785G>C	NP_001361618.1:p.Arg595=
NM_001374690.1:c.1578G>C	NP_001361619.1:p.Arg526=
NM_001374691.1:c.1446G>C	NP_001361620.1:p.Arg482=
NM_001374692.1:c.1446G>C	NP_001361621.1:p.Arg482=
NM_001374693.1:c.1446G>C	NP_001361622.1:p.Arg482=
NM_001374695.1:c.1407G>C	NP_001361624.1:p.Arg469=
NM_007171.4:c.1863G>C	NP_009102.4:p.Arg621=
NR_148391.2:n.1831G>C
NR_148392.2:n.2049G>C
NR_148393.2:n.1970G>C
NR_148394.2:n.1724G>C
NR_148395.2:n.2122G>C
NR_148396.2:n.1756G>C
NR_148397.2:n.1881G>C
NR_148398.2:n.1836G>C
NR_148399.2:n.2362G>C
NR_148400.2:n.1961G>C