Canonical Allele Identifier: CA467424144

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134398332A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522945A>C , CM000671.2:g.131522945A>C	GRCh38
NC_000009.11:g.134398332A>C , CM000671.1:g.134398332A>C	GRCh37
NC_000009.10:g.133388153A>C	NCBI36
NG_008896.1:g.25044A>C
NG_008896.2:g.25044A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1855A>C	ENSP00000343034.7:p.Arg619=
ENST00000404875.7:n.2557A>C
ENST00000423007.6:c.2074A>C	ENSP00000404119.2:p.Arg692=
ENST00000677295.2:c.*2361A>C	ENSP00000504346.2:n.*2361A>C
ENST00000678264.2:c.*2200A>C	ENSP00000503157.2:n.*2200A>C
ENST00000682070.1:n.2327A>C
ENST00000682639.1:c.14A>C
ENST00000682813.1:n.2414A>C
ENST00000683231.1:c.14A>C
ENST00000683392.1:n.4609A>C
ENST00000683712.1:n.2422A>C
ENST00000683900.1:n.3917A>C
ENST00000684062.1:n.2683A>C
ENST00000684399.1:c.14A>C
ENST00000684579.1:n.3863A>C
ENST00000341012.12:c.1855A>C	ENSP00000343034.7:p.Arg619=
ENST00000372220.5:c.886A>C	ENSP00000361294.5:p.Arg296=
ENST00000372228.9:c.2083A>C	ENSP00000361302.3:p.Arg695=
ENST00000402686.8:c.2017A>C MANE Select	ENSP00000385797.4:p.Arg673=
ENST00000676640.1:c.2017A>C	ENSP00000503281.1:p.Arg673=
ENST00000676803.1:c.1078A>C	ENSP00000503093.1:p.Arg360=
ENST00000676835.1:c.*1232A>C	ENSP00000502911.1:n.*1232A>C
ENST00000677029.1:c.1561A>C	ENSP00000502936.1:p.Arg521=
ENST00000677099.1:c.*1727A>C	ENSP00000504553.1:n.*1727A>C
ENST00000677216.1:c.1666A>C	ENSP00000503772.1:p.Arg556=
ENST00000677221.1:n.1042A>C
ENST00000677295.1:c.*1239A>C	ENSP00000504346.1:n.*1239A>C
ENST00000677444.1:c.1962A>C
ENST00000677586.1:n.1384A>C
ENST00000677626.1:c.1666A>C	ENSP00000503552.1:p.Arg556=
ENST00000677853.1:c.*1025A>C	ENSP00000503488.1:n.*1025A>C
ENST00000678264.1:c.*1394A>C	ENSP00000503157.1:n.*1394A>C
ENST00000678303.1:c.1927A>C	ENSP00000503696.1:p.Arg643=
ENST00000678366.1:c.*2266A>C	ENSP00000504353.1:n.*2266A>C
ENST00000678546.1:c.*1962A>C	ENSP00000503062.1:n.*1962A>C
ENST00000678548.1:c.*2156A>C	ENSP00000503934.1:n.*2156A>C
ENST00000678626.1:n.1853A>C
ENST00000678739.1:c.*2183A>C	ENSP00000503806.1:n.*2183A>C
ENST00000678833.1:c.*1769A>C	ENSP00000503893.1:n.*1769A>C
ENST00000679023.1:c.1855A>C	ENSP00000503718.1:p.Arg619=
ENST00000679076.1:c.1636A>C
ENST00000679111.1:c.*773A>C	ENSP00000504257.1:n.*773A>C
ENST00000679189.1:c.1666A>C	ENSP00000503356.1:p.Arg556=
ENST00000341012.11:c.1855A>C	ENSP00000343034.7:p.Arg619=
ENST00000372220.4:c.880A>C	ENSP00000361294.4:p.Arg294=
ENST00000372228.7:c.2083A>C	ENSP00000361302.3:p.Arg695=
ENST00000402686.7:c.2017A>C	ENSP00000385797.3:p.Arg673=
ENST00000404875.6:c.1666A>C	ENSP00000384531.2:p.Arg556=
ENST00000423007.5:c.2017A>C	ENSP00000404119.1:p.Arg673=
ENST00000485278.5:n.2567A>C
NM_001077365.1:c.2017A>C	NP_001070833.1:p.Arg673=
NM_001077366.1:c.1855A>C	NP_001070834.1:p.Arg619=
NM_001136113.1:c.2017A>C	NP_001129585.1:p.Arg673=
NM_001136114.1:c.1666A>C	NP_001129586.1:p.Arg556=
NM_007171.3:c.2083A>C	NP_009102.3:p.Arg695=
XM_005272156.1:c.2083A>C	XP_005272213.1:p.Arg695=
XM_005272158.1:c.1921A>C	XP_005272215.1:p.Arg641=
XM_005272159.1:c.1732A>C	XP_005272216.1:p.Arg578=
XM_005272162.1:c.886A>C	XP_005272219.1:p.Arg296=
XM_006716932.1:c.1732A>C	XP_006716995.1:p.Arg578=
XM_011518140.1:c.1936A>C	XP_011516442.1:p.Arg646=
XM_011518141.1:c.1870A>C	XP_011516443.1:p.Arg624=
XM_011518142.1:c.1774A>C	XP_011516444.1:p.Arg592=
XM_011518143.1:c.1768A>C	XP_011516445.1:p.Arg590=
XM_011518145.1:c.1627A>C	XP_011516447.1:p.Arg543=
XM_011518147.1:c.955A>C	XP_011516449.1:p.Arg319=
XR_929703.1:n.2259A>C
NM_001353193.1:c.2083A>C	NP_001340122.1:p.Arg695=
NM_001353194.1:c.1855A>C	NP_001340123.1:p.Arg619=
NM_001353195.1:c.1666A>C	NP_001340124.1:p.Arg556=
NM_001353196.1:c.1927A>C	NP_001340125.1:p.Arg643=
NM_001353197.1:c.1921A>C	NP_001340126.1:p.Arg641=
NM_001353198.1:c.1921A>C	NP_001340127.1:p.Arg641=
NM_001353199.1:c.1732A>C	NP_001340128.1:p.Arg578=
NM_001353200.1:c.1561A>C	NP_001340129.1:p.Arg521=
NR_148391.1:n.2067A>C
NR_148392.1:n.2285A>C
NR_148393.1:n.2206A>C
NR_148394.1:n.1960A>C
NR_148395.1:n.2358A>C
NR_148396.1:n.1992A>C
NR_148397.1:n.2117A>C
NR_148398.1:n.2072A>C
NR_148399.1:n.2598A>C
NR_148400.1:n.2197A>C
XM_005272162.3:c.886A>C	XP_005272219.1:p.Arg296=
XM_006716932.2:c.1732A>C	XP_006716995.1:p.Arg578=
XM_011518140.2:c.1936A>C	XP_011516442.1:p.Arg646=
XM_011518141.2:c.1870A>C	XP_011516443.1:p.Arg624=
XM_011518142.2:c.1774A>C	XP_011516444.1:p.Arg592=
XM_011518143.2:c.1768A>C	XP_011516445.1:p.Arg590=
XM_011518145.2:c.1627A>C	XP_011516447.1:p.Arg543=
XM_017014205.2:c.886A>C	XP_016869694.1:p.Arg296=
XM_024447380.1:c.886A>C	XP_024303148.1:p.Arg296=
XM_024447381.1:c.1192A>C	XP_024303149.1:p.Arg398=
XM_024447382.1:c.886A>C	XP_024303150.1:p.Arg296=
XR_001746160.2:n.2187A>C
XR_001746162.2:n.2392A>C
XR_001746164.1:n.2109A>C
XR_001746166.2:n.2404A>C
NM_001077365.2:c.2017A>C MANE Select	NP_001070833.1:p.Arg673=
NM_001077366.2:c.1855A>C	NP_001070834.1:p.Arg619=
NM_001136113.2:c.2017A>C	NP_001129585.1:p.Arg673=
NM_001136114.2:c.1666A>C	NP_001129586.1:p.Arg556=
NM_001353193.2:c.2083A>C	NP_001340122.2:p.Arg695=
NM_001353194.2:c.1855A>C	NP_001340123.1:p.Arg619=
NM_001353195.2:c.1666A>C	NP_001340124.1:p.Arg556=
NM_001353196.2:c.1927A>C	NP_001340125.1:p.Arg643=
NM_001353197.2:c.1921A>C	NP_001340126.2:p.Arg641=
NM_001353198.2:c.1921A>C	NP_001340127.2:p.Arg641=
NM_001353199.2:c.1732A>C	NP_001340128.2:p.Arg578=
NM_001353200.2:c.1561A>C	NP_001340129.1:p.Arg521=
NM_001374689.1:c.2005A>C	NP_001361618.1:p.Arg669=
NM_001374690.1:c.1798A>C	NP_001361619.1:p.Arg600=
NM_001374691.1:c.1666A>C	NP_001361620.1:p.Arg556=
NM_001374692.1:c.1666A>C	NP_001361621.1:p.Arg556=
NM_001374693.1:c.1666A>C	NP_001361622.1:p.Arg556=
NM_001374695.1:c.1627A>C	NP_001361624.1:p.Arg543=
NM_007171.4:c.2083A>C	NP_009102.4:p.Arg695=
NR_148391.2:n.2051A>C
NR_148392.2:n.2269A>C
NR_148393.2:n.2190A>C
NR_148394.2:n.1944A>C
NR_148395.2:n.2342A>C
NR_148396.2:n.1976A>C
NR_148397.2:n.2101A>C
NR_148398.2:n.2056A>C
NR_148399.2:n.2582A>C
NR_148400.2:n.2181A>C