Canonical Allele Identifier: CA375314146

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134397446G>C (hg19) ; chr9:g.131522059G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522059G>C , CM000671.2:g.131522059G>C	GRCh38
NC_000009.11:g.134397446G>C , CM000671.1:g.134397446G>C	GRCh37
NC_000009.10:g.133387267G>C	NCBI36
NG_008896.1:g.24158G>C
NG_008896.2:g.24158G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1676G>C	ENSP00000343034.7:p.Arg559Pro
ENST00000404875.7:n.2378G>C
ENST00000423007.6:c.1895G>C	ENSP00000404119.2:p.Arg632Pro
ENST00000677295.2:c.*2182G>C	ENSP00000504346.2:n.*2182G>C
ENST00000678264.2:c.*2021G>C	ENSP00000503157.2:n.*2021G>C
ENST00000682070.1:n.2291-143G>C
ENST00000682813.1:n.2242G>C
ENST00000683392.1:n.4573-143G>C
ENST00000683712.1:n.2243G>C
ENST00000683900.1:n.3738G>C
ENST00000684062.1:n.2504G>C
ENST00000684579.1:n.3684G>C
ENST00000684679.1:n.1065G>C
ENST00000341012.12:c.1676G>C	ENSP00000343034.7:p.Arg559Pro
ENST00000372220.5:c.707G>C	ENSP00000361294.5:p.Arg236Pro
ENST00000372228.9:c.1904G>C	ENSP00000361302.3:p.Arg635Pro
ENST00000402686.8:c.1838G>C MANE Select	ENSP00000385797.4:p.Arg613Pro
ENST00000676640.1:c.1838G>C	ENSP00000503281.1:p.Arg613Pro
ENST00000676803.1:c.899G>C	ENSP00000503093.1:p.Arg300Pro
ENST00000676835.1:c.*1053G>C	ENSP00000502911.1:n.*1053G>C
ENST00000677029.1:c.1382G>C	ENSP00000502936.1:p.Arg461Pro
ENST00000677099.1:c.*1548G>C	ENSP00000504553.1:n.*1548G>C
ENST00000677216.1:c.1487G>C	ENSP00000503772.1:p.Arg496Pro
ENST00000677221.1:n.863G>C
ENST00000677295.1:c.*1203-143G>C	ENSP00000504346.1:n.*1203-143G>C
ENST00000677444.1:c.1783G>C
ENST00000677586.1:n.1205G>C
ENST00000677626.1:c.1487G>C	ENSP00000503552.1:p.Arg496Pro
ENST00000677853.1:c.*846G>C	ENSP00000503488.1:n.*846G>C
ENST00000678202.1:n.997G>C
ENST00000678264.1:c.*1215G>C	ENSP00000503157.1:n.*1215G>C
ENST00000678303.1:c.1748G>C	ENSP00000503696.1:p.Arg583Pro
ENST00000678366.1:c.*2087G>C	ENSP00000504353.1:n.*2087G>C
ENST00000678546.1:c.*1783G>C	ENSP00000503062.1:n.*1783G>C
ENST00000678548.1:c.*1977G>C	ENSP00000503934.1:n.*1977G>C
ENST00000678626.1:n.1674G>C
ENST00000678739.1:c.*2147-143G>C	ENSP00000503806.1:n.*2147-143G>C
ENST00000678833.1:c.*1590G>C	ENSP00000503893.1:n.*1590G>C
ENST00000679023.1:c.1676G>C	ENSP00000503718.1:p.Arg559Pro
ENST00000679076.1:c.1457G>C
ENST00000679111.1:c.*594G>C	ENSP00000504257.1:n.*594G>C
ENST00000679189.1:c.1487G>C	ENSP00000503356.1:p.Arg496Pro
ENST00000341012.11:c.1676G>C	ENSP00000343034.7:p.Arg559Pro
ENST00000372220.4:c.701G>C	ENSP00000361294.4:p.Arg234Pro
ENST00000372228.7:c.1904G>C	ENSP00000361302.3:p.Arg635Pro
ENST00000402686.7:c.1838G>C	ENSP00000385797.3:p.Arg613Pro
ENST00000404875.6:c.1487G>C	ENSP00000384531.2:p.Arg496Pro
ENST00000423007.5:c.1838G>C	ENSP00000404119.1:p.Arg613Pro
ENST00000485278.5:n.2388G>C
ENST00000494883.1:n.381G>C
NM_001077365.1:c.1838G>C	NP_001070833.1:p.Arg613Pro
NM_001077366.1:c.1676G>C	NP_001070834.1:p.Arg559Pro
NM_001136113.1:c.1838G>C	NP_001129585.1:p.Arg613Pro
NM_001136114.1:c.1487G>C	NP_001129586.1:p.Arg496Pro
NM_007171.3:c.1904G>C	NP_009102.3:p.Arg635Pro
XM_005272156.1:c.1904G>C	XP_005272213.1:p.Arg635Pro
XM_005272158.1:c.1742G>C	XP_005272215.1:p.Arg581Pro
XM_005272159.1:c.1553G>C	XP_005272216.1:p.Arg518Pro
XM_005272162.1:c.707G>C	XP_005272219.1:p.Arg236Pro
XM_006716932.1:c.1553G>C	XP_006716995.1:p.Arg518Pro
XM_011518140.1:c.1757G>C	XP_011516442.1:p.Arg586Pro
XM_011518141.1:c.1691G>C	XP_011516443.1:p.Arg564Pro
XM_011518142.1:c.1595G>C	XP_011516444.1:p.Arg532Pro
XM_011518143.1:c.1589G>C	XP_011516445.1:p.Arg530Pro
XM_011518145.1:c.1448G>C	XP_011516447.1:p.Arg483Pro
XM_011518147.1:c.776G>C	XP_011516449.1:p.Arg259Pro
XR_929703.1:n.2080G>C
NM_001353193.1:c.1904G>C	NP_001340122.1:p.Arg635Pro
NM_001353194.1:c.1676G>C	NP_001340123.1:p.Arg559Pro
NM_001353195.1:c.1487G>C	NP_001340124.1:p.Arg496Pro
NM_001353196.1:c.1748G>C	NP_001340125.1:p.Arg583Pro
NM_001353197.1:c.1742G>C	NP_001340126.1:p.Arg581Pro
NM_001353198.1:c.1742G>C	NP_001340127.1:p.Arg581Pro
NM_001353199.1:c.1553G>C	NP_001340128.1:p.Arg518Pro
NM_001353200.1:c.1382G>C	NP_001340129.1:p.Arg461Pro
NR_148391.1:n.1888G>C
NR_148392.1:n.2106G>C
NR_148393.1:n.2027G>C
NR_148394.1:n.1781G>C
NR_148395.1:n.2179G>C
NR_148396.1:n.1813G>C
NR_148397.1:n.1938G>C
NR_148398.1:n.1893G>C
NR_148399.1:n.2419G>C
NR_148400.1:n.2018G>C
XM_005272162.3:c.707G>C	XP_005272219.1:p.Arg236Pro
XM_006716932.2:c.1553G>C	XP_006716995.1:p.Arg518Pro
XM_011518140.2:c.1757G>C	XP_011516442.1:p.Arg586Pro
XM_011518141.2:c.1691G>C	XP_011516443.1:p.Arg564Pro
XM_011518142.2:c.1595G>C	XP_011516444.1:p.Arg532Pro
XM_011518143.2:c.1589G>C	XP_011516445.1:p.Arg530Pro
XM_011518145.2:c.1448G>C	XP_011516447.1:p.Arg483Pro
XM_017014205.2:c.707G>C	XP_016869694.1:p.Arg236Pro
XM_024447380.1:c.707G>C	XP_024303148.1:p.Arg236Pro
XM_024447381.1:c.1013G>C	XP_024303149.1:p.Arg338Pro
XM_024447382.1:c.707G>C	XP_024303150.1:p.Arg236Pro
XR_001746160.2:n.2008G>C
XR_001746162.2:n.2213G>C
XR_001746164.1:n.1930G>C
XR_001746166.2:n.2225G>C
NM_001077365.2:c.1838G>C MANE Select	NP_001070833.1:p.Arg613Pro
NM_001077366.2:c.1676G>C	NP_001070834.1:p.Arg559Pro
NM_001136113.2:c.1838G>C	NP_001129585.1:p.Arg613Pro
NM_001136114.2:c.1487G>C	NP_001129586.1:p.Arg496Pro
NM_001353193.2:c.1904G>C	NP_001340122.2:p.Arg635Pro
NM_001353194.2:c.1676G>C	NP_001340123.1:p.Arg559Pro
NM_001353195.2:c.1487G>C	NP_001340124.1:p.Arg496Pro
NM_001353196.2:c.1748G>C	NP_001340125.1:p.Arg583Pro
NM_001353197.2:c.1742G>C	NP_001340126.2:p.Arg581Pro
NM_001353198.2:c.1742G>C	NP_001340127.2:p.Arg581Pro
NM_001353199.2:c.1553G>C	NP_001340128.2:p.Arg518Pro
NM_001353200.2:c.1382G>C	NP_001340129.1:p.Arg461Pro
NM_001374689.1:c.1826G>C	NP_001361618.1:p.Arg609Pro
NM_001374690.1:c.1619G>C	NP_001361619.1:p.Arg540Pro
NM_001374691.1:c.1487G>C	NP_001361620.1:p.Arg496Pro
NM_001374692.1:c.1487G>C	NP_001361621.1:p.Arg496Pro
NM_001374693.1:c.1487G>C	NP_001361622.1:p.Arg496Pro
NM_001374695.1:c.1448G>C	NP_001361624.1:p.Arg483Pro
NM_007171.4:c.1904G>C	NP_009102.4:p.Arg635Pro
NR_148391.2:n.1872G>C
NR_148392.2:n.2090G>C
NR_148393.2:n.2011G>C
NR_148394.2:n.1765G>C
NR_148395.2:n.2163G>C
NR_148396.2:n.1797G>C
NR_148397.2:n.1922G>C
NR_148398.2:n.1877G>C
NR_148399.2:n.2403G>C
NR_148400.2:n.2002G>C