Canonical Allele Identifier: CA467424251

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134398487A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523100A>G , CM000671.2:g.131523100A>G	GRCh38
NC_000009.11:g.134398487A>G , CM000671.1:g.134398487A>G	GRCh37
NC_000009.10:g.133388308A>G	NCBI36
NG_008896.1:g.25199A>G
NG_008896.2:g.25199A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.2010A>G	ENSP00000343034.7:p.Lys670=
ENST00000404875.7:n.2712A>G
ENST00000423007.6:c.2229A>G	ENSP00000404119.2:p.Lys743=
ENST00000677295.2:c.*2516A>G	ENSP00000504346.2:n.*2516A>G
ENST00000678264.2:c.*2355A>G	ENSP00000503157.2:n.*2355A>G
ENST00000682070.1:n.2482A>G
ENST00000682639.1:c.169A>G
ENST00000682813.1:n.2569A>G
ENST00000683231.1:c.169A>G
ENST00000683392.1:n.4764A>G
ENST00000683712.1:n.2577A>G
ENST00000683900.1:n.4072A>G
ENST00000684062.1:n.2838A>G
ENST00000684399.1:c.169A>G
ENST00000684579.1:n.4018A>G
ENST00000341012.12:c.2010A>G	ENSP00000343034.7:p.Lys670=
ENST00000372220.5:c.1041A>G	ENSP00000361294.5:p.Lys347=
ENST00000372228.9:c.2238A>G	ENSP00000361302.3:p.Lys746=
ENST00000402686.8:c.2172A>G MANE Select	ENSP00000385797.4:p.Lys724=
ENST00000676640.1:c.2172A>G	ENSP00000503281.1:p.Lys724=
ENST00000676803.1:c.1233A>G	ENSP00000503093.1:p.Lys411=
ENST00000676835.1:c.*1387A>G	ENSP00000502911.1:n.*1387A>G
ENST00000677029.1:c.1716A>G	ENSP00000502936.1:p.Lys572=
ENST00000677099.1:c.*1882A>G	ENSP00000504553.1:n.*1882A>G
ENST00000677216.1:c.1821A>G	ENSP00000503772.1:p.Lys607=
ENST00000677295.1:c.*1394A>G	ENSP00000504346.1:n.*1394A>G
ENST00000677444.1:c.2117A>G
ENST00000677586.1:n.1539A>G
ENST00000677626.1:c.1821A>G	ENSP00000503552.1:p.Lys607=
ENST00000677853.1:c.*1180A>G	ENSP00000503488.1:n.*1180A>G
ENST00000678264.1:c.*1549A>G	ENSP00000503157.1:n.*1549A>G
ENST00000678303.1:c.2082A>G	ENSP00000503696.1:p.Lys694=
ENST00000678366.1:c.*2421A>G	ENSP00000504353.1:n.*2421A>G
ENST00000678546.1:c.*2117A>G	ENSP00000503062.1:n.*2117A>G
ENST00000678548.1:c.*2311A>G	ENSP00000503934.1:n.*2311A>G
ENST00000678626.1:n.2008A>G
ENST00000678739.1:c.*2338A>G	ENSP00000503806.1:n.*2338A>G
ENST00000678833.1:c.*1924A>G	ENSP00000503893.1:n.*1924A>G
ENST00000679023.1:c.2010A>G	ENSP00000503718.1:p.Lys670=
ENST00000679076.1:c.1791A>G
ENST00000679111.1:c.*928A>G	ENSP00000504257.1:n.*928A>G
ENST00000679189.1:c.1821A>G	ENSP00000503356.1:p.Lys607=
ENST00000341012.11:c.2010A>G	ENSP00000343034.7:p.Lys670=
ENST00000372220.4:c.1035A>G	ENSP00000361294.4:p.Lys345=
ENST00000372228.7:c.2238A>G	ENSP00000361302.3:p.Lys746=
ENST00000402686.7:c.2172A>G	ENSP00000385797.3:p.Lys724=
ENST00000404875.6:c.1821A>G	ENSP00000384531.2:p.Lys607=
ENST00000423007.5:c.2172A>G	ENSP00000404119.1:p.Lys724=
ENST00000485278.5:n.2722A>G
NM_001077365.1:c.2172A>G	NP_001070833.1:p.Lys724=
NM_001077366.1:c.2010A>G	NP_001070834.1:p.Lys670=
NM_001136113.1:c.2172A>G	NP_001129585.1:p.Lys724=
NM_001136114.1:c.1821A>G	NP_001129586.1:p.Lys607=
NM_007171.3:c.2238A>G	NP_009102.3:p.Lys746=
XM_005272156.1:c.2238A>G	XP_005272213.1:p.Lys746=
XM_005272158.1:c.2076A>G	XP_005272215.1:p.Lys692=
XM_005272159.1:c.1887A>G	XP_005272216.1:p.Lys629=
XM_005272162.1:c.1041A>G	XP_005272219.1:p.Lys347=
XM_006716932.1:c.1887A>G	XP_006716995.1:p.Lys629=
XM_011518140.1:c.2091A>G	XP_011516442.1:p.Lys697=
XM_011518141.1:c.2025A>G	XP_011516443.1:p.Lys675=
XM_011518142.1:c.1929A>G	XP_011516444.1:p.Lys643=
XM_011518143.1:c.1923A>G	XP_011516445.1:p.Lys641=
XM_011518145.1:c.1782A>G	XP_011516447.1:p.Lys594=
XM_011518147.1:c.1110A>G	XP_011516449.1:p.Lys370=
XR_929703.1:n.2414A>G
NM_001353193.1:c.2238A>G	NP_001340122.1:p.Lys746=
NM_001353194.1:c.2010A>G	NP_001340123.1:p.Lys670=
NM_001353195.1:c.1821A>G	NP_001340124.1:p.Lys607=
NM_001353196.1:c.2082A>G	NP_001340125.1:p.Lys694=
NM_001353197.1:c.2076A>G	NP_001340126.1:p.Lys692=
NM_001353198.1:c.2076A>G	NP_001340127.1:p.Lys692=
NM_001353199.1:c.1887A>G	NP_001340128.1:p.Lys629=
NM_001353200.1:c.1716A>G	NP_001340129.1:p.Lys572=
NR_148391.1:n.2222A>G
NR_148392.1:n.2440A>G
NR_148393.1:n.2361A>G
NR_148394.1:n.2115A>G
NR_148395.1:n.2513A>G
NR_148396.1:n.2147A>G
NR_148397.1:n.2272A>G
NR_148398.1:n.2227A>G
NR_148399.1:n.2753A>G
NR_148400.1:n.2352A>G
XM_005272162.3:c.1041A>G	XP_005272219.1:p.Lys347=
XM_006716932.2:c.1887A>G	XP_006716995.1:p.Lys629=
XM_011518140.2:c.2091A>G	XP_011516442.1:p.Lys697=
XM_011518141.2:c.2025A>G	XP_011516443.1:p.Lys675=
XM_011518142.2:c.1929A>G	XP_011516444.1:p.Lys643=
XM_011518143.2:c.1923A>G	XP_011516445.1:p.Lys641=
XM_011518145.2:c.1782A>G	XP_011516447.1:p.Lys594=
XM_017014205.2:c.1041A>G	XP_016869694.1:p.Lys347=
XM_024447380.1:c.1041A>G	XP_024303148.1:p.Lys347=
XM_024447381.1:c.1347A>G	XP_024303149.1:p.Lys449=
XM_024447382.1:c.1041A>G	XP_024303150.1:p.Lys347=
XR_001746160.2:n.2342A>G
XR_001746162.2:n.2547A>G
XR_001746164.1:n.2264A>G
XR_001746166.2:n.2559A>G
NM_001077365.2:c.2172A>G MANE Select	NP_001070833.1:p.Lys724=
NM_001077366.2:c.2010A>G	NP_001070834.1:p.Lys670=
NM_001136113.2:c.2172A>G	NP_001129585.1:p.Lys724=
NM_001136114.2:c.1821A>G	NP_001129586.1:p.Lys607=
NM_001353193.2:c.2238A>G	NP_001340122.2:p.Lys746=
NM_001353194.2:c.2010A>G	NP_001340123.1:p.Lys670=
NM_001353195.2:c.1821A>G	NP_001340124.1:p.Lys607=
NM_001353196.2:c.2082A>G	NP_001340125.1:p.Lys694=
NM_001353197.2:c.2076A>G	NP_001340126.2:p.Lys692=
NM_001353198.2:c.2076A>G	NP_001340127.2:p.Lys692=
NM_001353199.2:c.1887A>G	NP_001340128.2:p.Lys629=
NM_001353200.2:c.1716A>G	NP_001340129.1:p.Lys572=
NM_001374689.1:c.2160A>G	NP_001361618.1:p.Lys720=
NM_001374690.1:c.1953A>G	NP_001361619.1:p.Lys651=
NM_001374691.1:c.1821A>G	NP_001361620.1:p.Lys607=
NM_001374692.1:c.1821A>G	NP_001361621.1:p.Lys607=
NM_001374693.1:c.1821A>G	NP_001361622.1:p.Lys607=
NM_001374695.1:c.1782A>G	NP_001361624.1:p.Lys594=
NM_007171.4:c.2238A>G	NP_009102.4:p.Lys746=
NR_148391.2:n.2206A>G
NR_148392.2:n.2424A>G
NR_148393.2:n.2345A>G
NR_148394.2:n.2099A>G
NR_148395.2:n.2497A>G
NR_148396.2:n.2131A>G
NR_148397.2:n.2256A>G
NR_148398.2:n.2211A>G
NR_148399.2:n.2737A>G
NR_148400.2:n.2336A>G