Canonical Allele Identifier: CA375315386

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134398456G>T (hg19) ; chr9:g.131523069G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523069G>T , CM000671.2:g.131523069G>T	GRCh38
NC_000009.11:g.134398456G>T , CM000671.1:g.134398456G>T	GRCh37
NC_000009.10:g.133388277G>T	NCBI36
NG_008896.1:g.25168G>T
NG_008896.2:g.25168G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1979G>T	ENSP00000343034.7:p.Trp660Leu
ENST00000404875.7:n.2681G>T
ENST00000423007.6:c.2198G>T	ENSP00000404119.2:p.Trp733Leu
ENST00000677295.2:c.*2485G>T	ENSP00000504346.2:n.*2485G>T
ENST00000678264.2:c.*2324G>T	ENSP00000503157.2:n.*2324G>T
ENST00000682070.1:n.2451G>T
ENST00000682639.1:c.138G>T
ENST00000682813.1:n.2538G>T
ENST00000683231.1:c.138G>T
ENST00000683392.1:n.4733G>T
ENST00000683712.1:n.2546G>T
ENST00000683900.1:n.4041G>T
ENST00000684062.1:n.2807G>T
ENST00000684399.1:c.138G>T
ENST00000684579.1:n.3987G>T
ENST00000341012.12:c.1979G>T	ENSP00000343034.7:p.Trp660Leu
ENST00000372220.5:c.1010G>T	ENSP00000361294.5:p.Trp337Leu
ENST00000372228.9:c.2207G>T	ENSP00000361302.3:p.Trp736Leu
ENST00000402686.8:c.2141G>T MANE Select	ENSP00000385797.4:p.Trp714Leu
ENST00000676640.1:c.2141G>T	ENSP00000503281.1:p.Trp714Leu
ENST00000676803.1:c.1202G>T	ENSP00000503093.1:p.Trp401Leu
ENST00000676835.1:c.*1356G>T	ENSP00000502911.1:n.*1356G>T
ENST00000677029.1:c.1685G>T	ENSP00000502936.1:p.Trp562Leu
ENST00000677099.1:c.*1851G>T	ENSP00000504553.1:n.*1851G>T
ENST00000677216.1:c.1790G>T	ENSP00000503772.1:p.Trp597Leu
ENST00000677295.1:c.*1363G>T	ENSP00000504346.1:n.*1363G>T
ENST00000677444.1:c.2086G>T
ENST00000677586.1:n.1508G>T
ENST00000677626.1:c.1790G>T	ENSP00000503552.1:p.Trp597Leu
ENST00000677853.1:c.*1149G>T	ENSP00000503488.1:n.*1149G>T
ENST00000678264.1:c.*1518G>T	ENSP00000503157.1:n.*1518G>T
ENST00000678303.1:c.2051G>T	ENSP00000503696.1:p.Trp684Leu
ENST00000678366.1:c.*2390G>T	ENSP00000504353.1:n.*2390G>T
ENST00000678546.1:c.*2086G>T	ENSP00000503062.1:n.*2086G>T
ENST00000678548.1:c.*2280G>T	ENSP00000503934.1:n.*2280G>T
ENST00000678626.1:n.1977G>T
ENST00000678739.1:c.*2307G>T	ENSP00000503806.1:n.*2307G>T
ENST00000678833.1:c.*1893G>T	ENSP00000503893.1:n.*1893G>T
ENST00000679023.1:c.1979G>T	ENSP00000503718.1:p.Trp660Leu
ENST00000679076.1:c.1760G>T
ENST00000679111.1:c.*897G>T	ENSP00000504257.1:n.*897G>T
ENST00000679189.1:c.1790G>T	ENSP00000503356.1:p.Trp597Leu
ENST00000341012.11:c.1979G>T	ENSP00000343034.7:p.Trp660Leu
ENST00000372220.4:c.1004G>T	ENSP00000361294.4:p.Trp335Leu
ENST00000372228.7:c.2207G>T	ENSP00000361302.3:p.Trp736Leu
ENST00000402686.7:c.2141G>T	ENSP00000385797.3:p.Trp714Leu
ENST00000404875.6:c.1790G>T	ENSP00000384531.2:p.Trp597Leu
ENST00000423007.5:c.2141G>T	ENSP00000404119.1:p.Trp714Leu
ENST00000485278.5:n.2691G>T
NM_001077365.1:c.2141G>T	NP_001070833.1:p.Trp714Leu
NM_001077366.1:c.1979G>T	NP_001070834.1:p.Trp660Leu
NM_001136113.1:c.2141G>T	NP_001129585.1:p.Trp714Leu
NM_001136114.1:c.1790G>T	NP_001129586.1:p.Trp597Leu
NM_007171.3:c.2207G>T	NP_009102.3:p.Trp736Leu
XM_005272156.1:c.2207G>T	XP_005272213.1:p.Trp736Leu
XM_005272158.1:c.2045G>T	XP_005272215.1:p.Trp682Leu
XM_005272159.1:c.1856G>T	XP_005272216.1:p.Trp619Leu
XM_005272162.1:c.1010G>T	XP_005272219.1:p.Trp337Leu
XM_006716932.1:c.1856G>T	XP_006716995.1:p.Trp619Leu
XM_011518140.1:c.2060G>T	XP_011516442.1:p.Trp687Leu
XM_011518141.1:c.1994G>T	XP_011516443.1:p.Trp665Leu
XM_011518142.1:c.1898G>T	XP_011516444.1:p.Trp633Leu
XM_011518143.1:c.1892G>T	XP_011516445.1:p.Trp631Leu
XM_011518145.1:c.1751G>T	XP_011516447.1:p.Trp584Leu
XM_011518147.1:c.1079G>T	XP_011516449.1:p.Trp360Leu
XR_929703.1:n.2383G>T
NM_001353193.1:c.2207G>T	NP_001340122.1:p.Trp736Leu
NM_001353194.1:c.1979G>T	NP_001340123.1:p.Trp660Leu
NM_001353195.1:c.1790G>T	NP_001340124.1:p.Trp597Leu
NM_001353196.1:c.2051G>T	NP_001340125.1:p.Trp684Leu
NM_001353197.1:c.2045G>T	NP_001340126.1:p.Trp682Leu
NM_001353198.1:c.2045G>T	NP_001340127.1:p.Trp682Leu
NM_001353199.1:c.1856G>T	NP_001340128.1:p.Trp619Leu
NM_001353200.1:c.1685G>T	NP_001340129.1:p.Trp562Leu
NR_148391.1:n.2191G>T
NR_148392.1:n.2409G>T
NR_148393.1:n.2330G>T
NR_148394.1:n.2084G>T
NR_148395.1:n.2482G>T
NR_148396.1:n.2116G>T
NR_148397.1:n.2241G>T
NR_148398.1:n.2196G>T
NR_148399.1:n.2722G>T
NR_148400.1:n.2321G>T
XM_005272162.3:c.1010G>T	XP_005272219.1:p.Trp337Leu
XM_006716932.2:c.1856G>T	XP_006716995.1:p.Trp619Leu
XM_011518140.2:c.2060G>T	XP_011516442.1:p.Trp687Leu
XM_011518141.2:c.1994G>T	XP_011516443.1:p.Trp665Leu
XM_011518142.2:c.1898G>T	XP_011516444.1:p.Trp633Leu
XM_011518143.2:c.1892G>T	XP_011516445.1:p.Trp631Leu
XM_011518145.2:c.1751G>T	XP_011516447.1:p.Trp584Leu
XM_017014205.2:c.1010G>T	XP_016869694.1:p.Trp337Leu
XM_024447380.1:c.1010G>T	XP_024303148.1:p.Trp337Leu
XM_024447381.1:c.1316G>T	XP_024303149.1:p.Trp439Leu
XM_024447382.1:c.1010G>T	XP_024303150.1:p.Trp337Leu
XR_001746160.2:n.2311G>T
XR_001746162.2:n.2516G>T
XR_001746164.1:n.2233G>T
XR_001746166.2:n.2528G>T
NM_001077365.2:c.2141G>T MANE Select	NP_001070833.1:p.Trp714Leu
NM_001077366.2:c.1979G>T	NP_001070834.1:p.Trp660Leu
NM_001136113.2:c.2141G>T	NP_001129585.1:p.Trp714Leu
NM_001136114.2:c.1790G>T	NP_001129586.1:p.Trp597Leu
NM_001353193.2:c.2207G>T	NP_001340122.2:p.Trp736Leu
NM_001353194.2:c.1979G>T	NP_001340123.1:p.Trp660Leu
NM_001353195.2:c.1790G>T	NP_001340124.1:p.Trp597Leu
NM_001353196.2:c.2051G>T	NP_001340125.1:p.Trp684Leu
NM_001353197.2:c.2045G>T	NP_001340126.2:p.Trp682Leu
NM_001353198.2:c.2045G>T	NP_001340127.2:p.Trp682Leu
NM_001353199.2:c.1856G>T	NP_001340128.2:p.Trp619Leu
NM_001353200.2:c.1685G>T	NP_001340129.1:p.Trp562Leu
NM_001374689.1:c.2129G>T	NP_001361618.1:p.Trp710Leu
NM_001374690.1:c.1922G>T	NP_001361619.1:p.Trp641Leu
NM_001374691.1:c.1790G>T	NP_001361620.1:p.Trp597Leu
NM_001374692.1:c.1790G>T	NP_001361621.1:p.Trp597Leu
NM_001374693.1:c.1790G>T	NP_001361622.1:p.Trp597Leu
NM_001374695.1:c.1751G>T	NP_001361624.1:p.Trp584Leu
NM_007171.4:c.2207G>T	NP_009102.4:p.Trp736Leu
NR_148391.2:n.2175G>T
NR_148392.2:n.2393G>T
NR_148393.2:n.2314G>T
NR_148394.2:n.2068G>T
NR_148395.2:n.2466G>T
NR_148396.2:n.2100G>T
NR_148397.2:n.2225G>T
NR_148398.2:n.2180G>T
NR_148399.2:n.2706G>T
NR_148400.2:n.2305G>T