Canonical Allele Identifier: CA467424243

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134398476T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523089T>C , CM000671.2:g.131523089T>C	GRCh38
NC_000009.11:g.134398476T>C , CM000671.1:g.134398476T>C	GRCh37
NC_000009.10:g.133388297T>C	NCBI36
NG_008896.1:g.25188T>C
NG_008896.2:g.25188T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1999T>C	ENSP00000343034.7:p.Leu667=
ENST00000404875.7:n.2701T>C
ENST00000423007.6:c.2218T>C	ENSP00000404119.2:p.Leu740=
ENST00000677295.2:c.*2505T>C	ENSP00000504346.2:n.*2505T>C
ENST00000678264.2:c.*2344T>C	ENSP00000503157.2:n.*2344T>C
ENST00000682070.1:n.2471T>C
ENST00000682639.1:c.158T>C
ENST00000682813.1:n.2558T>C
ENST00000683231.1:c.158T>C
ENST00000683392.1:n.4753T>C
ENST00000683712.1:n.2566T>C
ENST00000683900.1:n.4061T>C
ENST00000684062.1:n.2827T>C
ENST00000684399.1:c.158T>C
ENST00000684579.1:n.4007T>C
ENST00000341012.12:c.1999T>C	ENSP00000343034.7:p.Leu667=
ENST00000372220.5:c.1030T>C	ENSP00000361294.5:p.Leu344=
ENST00000372228.9:c.2227T>C	ENSP00000361302.3:p.Leu743=
ENST00000402686.8:c.2161T>C MANE Select	ENSP00000385797.4:p.Leu721=
ENST00000676640.1:c.2161T>C	ENSP00000503281.1:p.Leu721=
ENST00000676803.1:c.1222T>C	ENSP00000503093.1:p.Leu408=
ENST00000676835.1:c.*1376T>C	ENSP00000502911.1:n.*1376T>C
ENST00000677029.1:c.1705T>C	ENSP00000502936.1:p.Leu569=
ENST00000677099.1:c.*1871T>C	ENSP00000504553.1:n.*1871T>C
ENST00000677216.1:c.1810T>C	ENSP00000503772.1:p.Leu604=
ENST00000677295.1:c.*1383T>C	ENSP00000504346.1:n.*1383T>C
ENST00000677444.1:c.2106T>C
ENST00000677586.1:n.1528T>C
ENST00000677626.1:c.1810T>C	ENSP00000503552.1:p.Leu604=
ENST00000677853.1:c.*1169T>C	ENSP00000503488.1:n.*1169T>C
ENST00000678264.1:c.*1538T>C	ENSP00000503157.1:n.*1538T>C
ENST00000678303.1:c.2071T>C	ENSP00000503696.1:p.Leu691=
ENST00000678366.1:c.*2410T>C	ENSP00000504353.1:n.*2410T>C
ENST00000678546.1:c.*2106T>C	ENSP00000503062.1:n.*2106T>C
ENST00000678548.1:c.*2300T>C	ENSP00000503934.1:n.*2300T>C
ENST00000678626.1:n.1997T>C
ENST00000678739.1:c.*2327T>C	ENSP00000503806.1:n.*2327T>C
ENST00000678833.1:c.*1913T>C	ENSP00000503893.1:n.*1913T>C
ENST00000679023.1:c.1999T>C	ENSP00000503718.1:p.Leu667=
ENST00000679076.1:c.1780T>C
ENST00000679111.1:c.*917T>C	ENSP00000504257.1:n.*917T>C
ENST00000679189.1:c.1810T>C	ENSP00000503356.1:p.Leu604=
ENST00000341012.11:c.1999T>C	ENSP00000343034.7:p.Leu667=
ENST00000372220.4:c.1024T>C	ENSP00000361294.4:p.Leu342=
ENST00000372228.7:c.2227T>C	ENSP00000361302.3:p.Leu743=
ENST00000402686.7:c.2161T>C	ENSP00000385797.3:p.Leu721=
ENST00000404875.6:c.1810T>C	ENSP00000384531.2:p.Leu604=
ENST00000423007.5:c.2161T>C	ENSP00000404119.1:p.Leu721=
ENST00000485278.5:n.2711T>C
NM_001077365.1:c.2161T>C	NP_001070833.1:p.Leu721=
NM_001077366.1:c.1999T>C	NP_001070834.1:p.Leu667=
NM_001136113.1:c.2161T>C	NP_001129585.1:p.Leu721=
NM_001136114.1:c.1810T>C	NP_001129586.1:p.Leu604=
NM_007171.3:c.2227T>C	NP_009102.3:p.Leu743=
XM_005272156.1:c.2227T>C	XP_005272213.1:p.Leu743=
XM_005272158.1:c.2065T>C	XP_005272215.1:p.Leu689=
XM_005272159.1:c.1876T>C	XP_005272216.1:p.Leu626=
XM_005272162.1:c.1030T>C	XP_005272219.1:p.Leu344=
XM_006716932.1:c.1876T>C	XP_006716995.1:p.Leu626=
XM_011518140.1:c.2080T>C	XP_011516442.1:p.Leu694=
XM_011518141.1:c.2014T>C	XP_011516443.1:p.Leu672=
XM_011518142.1:c.1918T>C	XP_011516444.1:p.Leu640=
XM_011518143.1:c.1912T>C	XP_011516445.1:p.Leu638=
XM_011518145.1:c.1771T>C	XP_011516447.1:p.Leu591=
XM_011518147.1:c.1099T>C	XP_011516449.1:p.Leu367=
XR_929703.1:n.2403T>C
NM_001353193.1:c.2227T>C	NP_001340122.1:p.Leu743=
NM_001353194.1:c.1999T>C	NP_001340123.1:p.Leu667=
NM_001353195.1:c.1810T>C	NP_001340124.1:p.Leu604=
NM_001353196.1:c.2071T>C	NP_001340125.1:p.Leu691=
NM_001353197.1:c.2065T>C	NP_001340126.1:p.Leu689=
NM_001353198.1:c.2065T>C	NP_001340127.1:p.Leu689=
NM_001353199.1:c.1876T>C	NP_001340128.1:p.Leu626=
NM_001353200.1:c.1705T>C	NP_001340129.1:p.Leu569=
NR_148391.1:n.2211T>C
NR_148392.1:n.2429T>C
NR_148393.1:n.2350T>C
NR_148394.1:n.2104T>C
NR_148395.1:n.2502T>C
NR_148396.1:n.2136T>C
NR_148397.1:n.2261T>C
NR_148398.1:n.2216T>C
NR_148399.1:n.2742T>C
NR_148400.1:n.2341T>C
XM_005272162.3:c.1030T>C	XP_005272219.1:p.Leu344=
XM_006716932.2:c.1876T>C	XP_006716995.1:p.Leu626=
XM_011518140.2:c.2080T>C	XP_011516442.1:p.Leu694=
XM_011518141.2:c.2014T>C	XP_011516443.1:p.Leu672=
XM_011518142.2:c.1918T>C	XP_011516444.1:p.Leu640=
XM_011518143.2:c.1912T>C	XP_011516445.1:p.Leu638=
XM_011518145.2:c.1771T>C	XP_011516447.1:p.Leu591=
XM_017014205.2:c.1030T>C	XP_016869694.1:p.Leu344=
XM_024447380.1:c.1030T>C	XP_024303148.1:p.Leu344=
XM_024447381.1:c.1336T>C	XP_024303149.1:p.Leu446=
XM_024447382.1:c.1030T>C	XP_024303150.1:p.Leu344=
XR_001746160.2:n.2331T>C
XR_001746162.2:n.2536T>C
XR_001746164.1:n.2253T>C
XR_001746166.2:n.2548T>C
NM_001077365.2:c.2161T>C MANE Select	NP_001070833.1:p.Leu721=
NM_001077366.2:c.1999T>C	NP_001070834.1:p.Leu667=
NM_001136113.2:c.2161T>C	NP_001129585.1:p.Leu721=
NM_001136114.2:c.1810T>C	NP_001129586.1:p.Leu604=
NM_001353193.2:c.2227T>C	NP_001340122.2:p.Leu743=
NM_001353194.2:c.1999T>C	NP_001340123.1:p.Leu667=
NM_001353195.2:c.1810T>C	NP_001340124.1:p.Leu604=
NM_001353196.2:c.2071T>C	NP_001340125.1:p.Leu691=
NM_001353197.2:c.2065T>C	NP_001340126.2:p.Leu689=
NM_001353198.2:c.2065T>C	NP_001340127.2:p.Leu689=
NM_001353199.2:c.1876T>C	NP_001340128.2:p.Leu626=
NM_001353200.2:c.1705T>C	NP_001340129.1:p.Leu569=
NM_001374689.1:c.2149T>C	NP_001361618.1:p.Leu717=
NM_001374690.1:c.1942T>C	NP_001361619.1:p.Leu648=
NM_001374691.1:c.1810T>C	NP_001361620.1:p.Leu604=
NM_001374692.1:c.1810T>C	NP_001361621.1:p.Leu604=
NM_001374693.1:c.1810T>C	NP_001361622.1:p.Leu604=
NM_001374695.1:c.1771T>C	NP_001361624.1:p.Leu591=
NM_007171.4:c.2227T>C	NP_009102.4:p.Leu743=
NR_148391.2:n.2195T>C
NR_148392.2:n.2413T>C
NR_148393.2:n.2334T>C
NR_148394.2:n.2088T>C
NR_148395.2:n.2486T>C
NR_148396.2:n.2120T>C
NR_148397.2:n.2245T>C
NR_148398.2:n.2200T>C
NR_148399.2:n.2726T>C
NR_148400.2:n.2325T>C