Canonical Allele Identifier: CA467424188

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134398397G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523010G>T , CM000671.2:g.131523010G>T	GRCh38
NC_000009.11:g.134398397G>T , CM000671.1:g.134398397G>T	GRCh37
NC_000009.10:g.133388218G>T	NCBI36
NG_008896.1:g.25109G>T
NG_008896.2:g.25109G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1920G>T	ENSP00000343034.7:p.Leu640=
ENST00000404875.7:n.2622G>T
ENST00000423007.6:c.2139G>T	ENSP00000404119.2:p.Leu713=
ENST00000677295.2:c.*2426G>T	ENSP00000504346.2:n.*2426G>T
ENST00000678264.2:c.*2265G>T	ENSP00000503157.2:n.*2265G>T
ENST00000682070.1:n.2392G>T
ENST00000682639.1:c.79G>T
ENST00000682813.1:n.2479G>T
ENST00000683231.1:c.79G>T
ENST00000683392.1:n.4674G>T
ENST00000683712.1:n.2487G>T
ENST00000683900.1:n.3982G>T
ENST00000684062.1:n.2748G>T
ENST00000684399.1:c.79G>T
ENST00000684579.1:n.3928G>T
ENST00000341012.12:c.1920G>T	ENSP00000343034.7:p.Leu640=
ENST00000372220.5:c.951G>T	ENSP00000361294.5:p.Leu317=
ENST00000372228.9:c.2148G>T	ENSP00000361302.3:p.Leu716=
ENST00000402686.8:c.2082G>T MANE Select	ENSP00000385797.4:p.Leu694=
ENST00000676640.1:c.2082G>T	ENSP00000503281.1:p.Leu694=
ENST00000676803.1:c.1143G>T	ENSP00000503093.1:p.Leu381=
ENST00000676835.1:c.*1297G>T	ENSP00000502911.1:n.*1297G>T
ENST00000677029.1:c.1626G>T	ENSP00000502936.1:p.Leu542=
ENST00000677099.1:c.*1792G>T	ENSP00000504553.1:n.*1792G>T
ENST00000677216.1:c.1731G>T	ENSP00000503772.1:p.Leu577=
ENST00000677221.1:n.1107G>T
ENST00000677295.1:c.*1304G>T	ENSP00000504346.1:n.*1304G>T
ENST00000677444.1:c.2027G>T
ENST00000677586.1:n.1449G>T
ENST00000677626.1:c.1731G>T	ENSP00000503552.1:p.Leu577=
ENST00000677853.1:c.*1090G>T	ENSP00000503488.1:n.*1090G>T
ENST00000678264.1:c.*1459G>T	ENSP00000503157.1:n.*1459G>T
ENST00000678303.1:c.1992G>T	ENSP00000503696.1:p.Leu664=
ENST00000678366.1:c.*2331G>T	ENSP00000504353.1:n.*2331G>T
ENST00000678546.1:c.*2027G>T	ENSP00000503062.1:n.*2027G>T
ENST00000678548.1:c.*2221G>T	ENSP00000503934.1:n.*2221G>T
ENST00000678626.1:n.1918G>T
ENST00000678739.1:c.*2248G>T	ENSP00000503806.1:n.*2248G>T
ENST00000678833.1:c.*1834G>T	ENSP00000503893.1:n.*1834G>T
ENST00000679023.1:c.1920G>T	ENSP00000503718.1:p.Leu640=
ENST00000679076.1:c.1701G>T
ENST00000679111.1:c.*838G>T	ENSP00000504257.1:n.*838G>T
ENST00000679189.1:c.1731G>T	ENSP00000503356.1:p.Leu577=
ENST00000341012.11:c.1920G>T	ENSP00000343034.7:p.Leu640=
ENST00000372220.4:c.945G>T	ENSP00000361294.4:p.Leu315=
ENST00000372228.7:c.2148G>T	ENSP00000361302.3:p.Leu716=
ENST00000402686.7:c.2082G>T	ENSP00000385797.3:p.Leu694=
ENST00000404875.6:c.1731G>T	ENSP00000384531.2:p.Leu577=
ENST00000423007.5:c.2082G>T	ENSP00000404119.1:p.Leu694=
ENST00000485278.5:n.2632G>T
NM_001077365.1:c.2082G>T	NP_001070833.1:p.Leu694=
NM_001077366.1:c.1920G>T	NP_001070834.1:p.Leu640=
NM_001136113.1:c.2082G>T	NP_001129585.1:p.Leu694=
NM_001136114.1:c.1731G>T	NP_001129586.1:p.Leu577=
NM_007171.3:c.2148G>T	NP_009102.3:p.Leu716=
XM_005272156.1:c.2148G>T	XP_005272213.1:p.Leu716=
XM_005272158.1:c.1986G>T	XP_005272215.1:p.Leu662=
XM_005272159.1:c.1797G>T	XP_005272216.1:p.Leu599=
XM_005272162.1:c.951G>T	XP_005272219.1:p.Leu317=
XM_006716932.1:c.1797G>T	XP_006716995.1:p.Leu599=
XM_011518140.1:c.2001G>T	XP_011516442.1:p.Leu667=
XM_011518141.1:c.1935G>T	XP_011516443.1:p.Leu645=
XM_011518142.1:c.1839G>T	XP_011516444.1:p.Leu613=
XM_011518143.1:c.1833G>T	XP_011516445.1:p.Leu611=
XM_011518145.1:c.1692G>T	XP_011516447.1:p.Leu564=
XM_011518147.1:c.1020G>T	XP_011516449.1:p.Leu340=
XR_929703.1:n.2324G>T
NM_001353193.1:c.2148G>T	NP_001340122.1:p.Leu716=
NM_001353194.1:c.1920G>T	NP_001340123.1:p.Leu640=
NM_001353195.1:c.1731G>T	NP_001340124.1:p.Leu577=
NM_001353196.1:c.1992G>T	NP_001340125.1:p.Leu664=
NM_001353197.1:c.1986G>T	NP_001340126.1:p.Leu662=
NM_001353198.1:c.1986G>T	NP_001340127.1:p.Leu662=
NM_001353199.1:c.1797G>T	NP_001340128.1:p.Leu599=
NM_001353200.1:c.1626G>T	NP_001340129.1:p.Leu542=
NR_148391.1:n.2132G>T
NR_148392.1:n.2350G>T
NR_148393.1:n.2271G>T
NR_148394.1:n.2025G>T
NR_148395.1:n.2423G>T
NR_148396.1:n.2057G>T
NR_148397.1:n.2182G>T
NR_148398.1:n.2137G>T
NR_148399.1:n.2663G>T
NR_148400.1:n.2262G>T
XM_005272162.3:c.951G>T	XP_005272219.1:p.Leu317=
XM_006716932.2:c.1797G>T	XP_006716995.1:p.Leu599=
XM_011518140.2:c.2001G>T	XP_011516442.1:p.Leu667=
XM_011518141.2:c.1935G>T	XP_011516443.1:p.Leu645=
XM_011518142.2:c.1839G>T	XP_011516444.1:p.Leu613=
XM_011518143.2:c.1833G>T	XP_011516445.1:p.Leu611=
XM_011518145.2:c.1692G>T	XP_011516447.1:p.Leu564=
XM_017014205.2:c.951G>T	XP_016869694.1:p.Leu317=
XM_024447380.1:c.951G>T	XP_024303148.1:p.Leu317=
XM_024447381.1:c.1257G>T	XP_024303149.1:p.Leu419=
XM_024447382.1:c.951G>T	XP_024303150.1:p.Leu317=
XR_001746160.2:n.2252G>T
XR_001746162.2:n.2457G>T
XR_001746164.1:n.2174G>T
XR_001746166.2:n.2469G>T
NM_001077365.2:c.2082G>T MANE Select	NP_001070833.1:p.Leu694=
NM_001077366.2:c.1920G>T	NP_001070834.1:p.Leu640=
NM_001136113.2:c.2082G>T	NP_001129585.1:p.Leu694=
NM_001136114.2:c.1731G>T	NP_001129586.1:p.Leu577=
NM_001353193.2:c.2148G>T	NP_001340122.2:p.Leu716=
NM_001353194.2:c.1920G>T	NP_001340123.1:p.Leu640=
NM_001353195.2:c.1731G>T	NP_001340124.1:p.Leu577=
NM_001353196.2:c.1992G>T	NP_001340125.1:p.Leu664=
NM_001353197.2:c.1986G>T	NP_001340126.2:p.Leu662=
NM_001353198.2:c.1986G>T	NP_001340127.2:p.Leu662=
NM_001353199.2:c.1797G>T	NP_001340128.2:p.Leu599=
NM_001353200.2:c.1626G>T	NP_001340129.1:p.Leu542=
NM_001374689.1:c.2070G>T	NP_001361618.1:p.Leu690=
NM_001374690.1:c.1863G>T	NP_001361619.1:p.Leu621=
NM_001374691.1:c.1731G>T	NP_001361620.1:p.Leu577=
NM_001374692.1:c.1731G>T	NP_001361621.1:p.Leu577=
NM_001374693.1:c.1731G>T	NP_001361622.1:p.Leu577=
NM_001374695.1:c.1692G>T	NP_001361624.1:p.Leu564=
NM_007171.4:c.2148G>T	NP_009102.4:p.Leu716=
NR_148391.2:n.2116G>T
NR_148392.2:n.2334G>T
NR_148393.2:n.2255G>T
NR_148394.2:n.2009G>T
NR_148395.2:n.2407G>T
NR_148396.2:n.2041G>T
NR_148397.2:n.2166G>T
NR_148398.2:n.2121G>T
NR_148399.2:n.2647G>T
NR_148400.2:n.2246G>T