Canonical Allele Identifier: CA467424088

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134397558C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522171C>T , CM000671.2:g.131522171C>T	GRCh38
NC_000009.11:g.134397558C>T , CM000671.1:g.134397558C>T	GRCh37
NC_000009.10:g.133387379C>T	NCBI36
NG_008896.1:g.24270C>T
NG_008896.2:g.24270C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1788C>T	ENSP00000343034.7:p.Phe596=
ENST00000404875.7:n.2490C>T
ENST00000423007.6:c.2007C>T	ENSP00000404119.2:p.Phe669=
ENST00000677295.2:c.*2294C>T	ENSP00000504346.2:n.*2294C>T
ENST00000678264.2:c.*2133C>T	ENSP00000503157.2:n.*2133C>T
ENST00000682070.1:n.2291-31C>T
ENST00000682813.1:n.2354C>T
ENST00000683392.1:n.4573-31C>T
ENST00000683712.1:n.2355C>T
ENST00000683900.1:n.3850C>T
ENST00000684062.1:n.2616C>T
ENST00000684579.1:n.3796C>T
ENST00000684679.1:n.1177C>T
ENST00000341012.12:c.1788C>T	ENSP00000343034.7:p.Phe596=
ENST00000372220.5:c.819C>T	ENSP00000361294.5:p.Phe273=
ENST00000372228.9:c.2016C>T	ENSP00000361302.3:p.Phe672=
ENST00000402686.8:c.1950C>T MANE Select	ENSP00000385797.4:p.Phe650=
ENST00000676640.1:c.1950C>T	ENSP00000503281.1:p.Phe650=
ENST00000676803.1:c.1011C>T	ENSP00000503093.1:p.Phe337=
ENST00000676835.1:c.*1165C>T	ENSP00000502911.1:n.*1165C>T
ENST00000677029.1:c.1494C>T	ENSP00000502936.1:p.Phe498=
ENST00000677099.1:c.*1660C>T	ENSP00000504553.1:n.*1660C>T
ENST00000677216.1:c.1599C>T	ENSP00000503772.1:p.Phe533=
ENST00000677221.1:n.975C>T
ENST00000677295.1:c.*1203-31C>T	ENSP00000504346.1:n.*1203-31C>T
ENST00000677444.1:c.1895C>T
ENST00000677586.1:n.1317C>T
ENST00000677626.1:c.1599C>T	ENSP00000503552.1:p.Phe533=
ENST00000677853.1:c.*958C>T	ENSP00000503488.1:n.*958C>T
ENST00000678202.1:n.1109C>T
ENST00000678264.1:c.*1327C>T	ENSP00000503157.1:n.*1327C>T
ENST00000678303.1:c.1860C>T	ENSP00000503696.1:p.Phe620=
ENST00000678366.1:c.*2199C>T	ENSP00000504353.1:n.*2199C>T
ENST00000678546.1:c.*1895C>T	ENSP00000503062.1:n.*1895C>T
ENST00000678548.1:c.*2089C>T	ENSP00000503934.1:n.*2089C>T
ENST00000678626.1:n.1786C>T
ENST00000678739.1:c.*2147-31C>T	ENSP00000503806.1:n.*2147-31C>T
ENST00000678833.1:c.*1702C>T	ENSP00000503893.1:n.*1702C>T
ENST00000679023.1:c.1788C>T	ENSP00000503718.1:p.Phe596=
ENST00000679076.1:c.1569C>T
ENST00000679111.1:c.*706C>T	ENSP00000504257.1:n.*706C>T
ENST00000679189.1:c.1599C>T	ENSP00000503356.1:p.Phe533=
ENST00000341012.11:c.1788C>T	ENSP00000343034.7:p.Phe596=
ENST00000372220.4:c.813C>T	ENSP00000361294.4:p.Phe271=
ENST00000372228.7:c.2016C>T	ENSP00000361302.3:p.Phe672=
ENST00000402686.7:c.1950C>T	ENSP00000385797.3:p.Phe650=
ENST00000404875.6:c.1599C>T	ENSP00000384531.2:p.Phe533=
ENST00000423007.5:c.1950C>T	ENSP00000404119.1:p.Phe650=
ENST00000485278.5:n.2500C>T
ENST00000494883.1:n.493C>T
NM_001077365.1:c.1950C>T	NP_001070833.1:p.Phe650=
NM_001077366.1:c.1788C>T	NP_001070834.1:p.Phe596=
NM_001136113.1:c.1950C>T	NP_001129585.1:p.Phe650=
NM_001136114.1:c.1599C>T	NP_001129586.1:p.Phe533=
NM_007171.3:c.2016C>T	NP_009102.3:p.Phe672=
XM_005272156.1:c.2016C>T	XP_005272213.1:p.Phe672=
XM_005272158.1:c.1854C>T	XP_005272215.1:p.Phe618=
XM_005272159.1:c.1665C>T	XP_005272216.1:p.Phe555=
XM_005272162.1:c.819C>T	XP_005272219.1:p.Phe273=
XM_006716932.1:c.1665C>T	XP_006716995.1:p.Phe555=
XM_011518140.1:c.1869C>T	XP_011516442.1:p.Phe623=
XM_011518141.1:c.1803C>T	XP_011516443.1:p.Phe601=
XM_011518142.1:c.1707C>T	XP_011516444.1:p.Phe569=
XM_011518143.1:c.1701C>T	XP_011516445.1:p.Phe567=
XM_011518145.1:c.1560C>T	XP_011516447.1:p.Phe520=
XM_011518147.1:c.888C>T	XP_011516449.1:p.Phe296=
XR_929703.1:n.2192C>T
NM_001353193.1:c.2016C>T	NP_001340122.1:p.Phe672=
NM_001353194.1:c.1788C>T	NP_001340123.1:p.Phe596=
NM_001353195.1:c.1599C>T	NP_001340124.1:p.Phe533=
NM_001353196.1:c.1860C>T	NP_001340125.1:p.Phe620=
NM_001353197.1:c.1854C>T	NP_001340126.1:p.Phe618=
NM_001353198.1:c.1854C>T	NP_001340127.1:p.Phe618=
NM_001353199.1:c.1665C>T	NP_001340128.1:p.Phe555=
NM_001353200.1:c.1494C>T	NP_001340129.1:p.Phe498=
NR_148391.1:n.2000C>T
NR_148392.1:n.2218C>T
NR_148393.1:n.2139C>T
NR_148394.1:n.1893C>T
NR_148395.1:n.2291C>T
NR_148396.1:n.1925C>T
NR_148397.1:n.2050C>T
NR_148398.1:n.2005C>T
NR_148399.1:n.2531C>T
NR_148400.1:n.2130C>T
XM_005272162.3:c.819C>T	XP_005272219.1:p.Phe273=
XM_006716932.2:c.1665C>T	XP_006716995.1:p.Phe555=
XM_011518140.2:c.1869C>T	XP_011516442.1:p.Phe623=
XM_011518141.2:c.1803C>T	XP_011516443.1:p.Phe601=
XM_011518142.2:c.1707C>T	XP_011516444.1:p.Phe569=
XM_011518143.2:c.1701C>T	XP_011516445.1:p.Phe567=
XM_011518145.2:c.1560C>T	XP_011516447.1:p.Phe520=
XM_017014205.2:c.819C>T	XP_016869694.1:p.Phe273=
XM_024447380.1:c.819C>T	XP_024303148.1:p.Phe273=
XM_024447381.1:c.1125C>T	XP_024303149.1:p.Phe375=
XM_024447382.1:c.819C>T	XP_024303150.1:p.Phe273=
XR_001746160.2:n.2120C>T
XR_001746162.2:n.2325C>T
XR_001746164.1:n.2042C>T
XR_001746166.2:n.2337C>T
NM_001077365.2:c.1950C>T MANE Select	NP_001070833.1:p.Phe650=
NM_001077366.2:c.1788C>T	NP_001070834.1:p.Phe596=
NM_001136113.2:c.1950C>T	NP_001129585.1:p.Phe650=
NM_001136114.2:c.1599C>T	NP_001129586.1:p.Phe533=
NM_001353193.2:c.2016C>T	NP_001340122.2:p.Phe672=
NM_001353194.2:c.1788C>T	NP_001340123.1:p.Phe596=
NM_001353195.2:c.1599C>T	NP_001340124.1:p.Phe533=
NM_001353196.2:c.1860C>T	NP_001340125.1:p.Phe620=
NM_001353197.2:c.1854C>T	NP_001340126.2:p.Phe618=
NM_001353198.2:c.1854C>T	NP_001340127.2:p.Phe618=
NM_001353199.2:c.1665C>T	NP_001340128.2:p.Phe555=
NM_001353200.2:c.1494C>T	NP_001340129.1:p.Phe498=
NM_001374689.1:c.1938C>T	NP_001361618.1:p.Phe646=
NM_001374690.1:c.1731C>T	NP_001361619.1:p.Phe577=
NM_001374691.1:c.1599C>T	NP_001361620.1:p.Phe533=
NM_001374692.1:c.1599C>T	NP_001361621.1:p.Phe533=
NM_001374693.1:c.1599C>T	NP_001361622.1:p.Phe533=
NM_001374695.1:c.1560C>T	NP_001361624.1:p.Phe520=
NM_007171.4:c.2016C>T	NP_009102.4:p.Phe672=
NR_148391.2:n.1984C>T
NR_148392.2:n.2202C>T
NR_148393.2:n.2123C>T
NR_148394.2:n.1877C>T
NR_148395.2:n.2275C>T
NR_148396.2:n.1909C>T
NR_148397.2:n.2034C>T
NR_148398.2:n.1989C>T
NR_148399.2:n.2515C>T
NR_148400.2:n.2114C>T