Canonical Allele Identifier: CA467424095

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134397568C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522181C>T , CM000671.2:g.131522181C>T	GRCh38
NC_000009.11:g.134397568C>T , CM000671.1:g.134397568C>T	GRCh37
NC_000009.10:g.133387389C>T	NCBI36
NG_008896.1:g.24280C>T
NG_008896.2:g.24280C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1798C>T	ENSP00000343034.7:p.Leu600=
ENST00000404875.7:n.2500C>T
ENST00000423007.6:c.2017C>T	ENSP00000404119.2:p.Leu673=
ENST00000677295.2:c.*2304C>T	ENSP00000504346.2:n.*2304C>T
ENST00000678264.2:c.*2143C>T	ENSP00000503157.2:n.*2143C>T
ENST00000682070.1:n.2291-21C>T
ENST00000682813.1:n.2364C>T
ENST00000683392.1:n.4573-21C>T
ENST00000683712.1:n.2365C>T
ENST00000683900.1:n.3860C>T
ENST00000684062.1:n.2626C>T
ENST00000684579.1:n.3806C>T
ENST00000684679.1:n.1187C>T
ENST00000341012.12:c.1798C>T	ENSP00000343034.7:p.Leu600=
ENST00000372220.5:c.829C>T	ENSP00000361294.5:p.Leu277=
ENST00000372228.9:c.2026C>T	ENSP00000361302.3:p.Leu676=
ENST00000402686.8:c.1960C>T MANE Select	ENSP00000385797.4:p.Leu654=
ENST00000676640.1:c.1960C>T	ENSP00000503281.1:p.Leu654=
ENST00000676803.1:c.1021C>T	ENSP00000503093.1:p.Leu341=
ENST00000676835.1:c.*1175C>T	ENSP00000502911.1:n.*1175C>T
ENST00000677029.1:c.1504C>T	ENSP00000502936.1:p.Leu502=
ENST00000677099.1:c.*1670C>T	ENSP00000504553.1:n.*1670C>T
ENST00000677216.1:c.1609C>T	ENSP00000503772.1:p.Leu537=
ENST00000677221.1:n.985C>T
ENST00000677295.1:c.*1203-21C>T	ENSP00000504346.1:n.*1203-21C>T
ENST00000677444.1:c.1905C>T
ENST00000677586.1:n.1327C>T
ENST00000677626.1:c.1609C>T	ENSP00000503552.1:p.Leu537=
ENST00000677853.1:c.*968C>T	ENSP00000503488.1:n.*968C>T
ENST00000678202.1:n.1119C>T
ENST00000678264.1:c.*1337C>T	ENSP00000503157.1:n.*1337C>T
ENST00000678303.1:c.1870C>T	ENSP00000503696.1:p.Leu624=
ENST00000678366.1:c.*2209C>T	ENSP00000504353.1:n.*2209C>T
ENST00000678546.1:c.*1905C>T	ENSP00000503062.1:n.*1905C>T
ENST00000678548.1:c.*2099C>T	ENSP00000503934.1:n.*2099C>T
ENST00000678626.1:n.1796C>T
ENST00000678739.1:c.*2147-21C>T	ENSP00000503806.1:n.*2147-21C>T
ENST00000678833.1:c.*1712C>T	ENSP00000503893.1:n.*1712C>T
ENST00000679023.1:c.1798C>T	ENSP00000503718.1:p.Leu600=
ENST00000679076.1:c.1579C>T
ENST00000679111.1:c.*716C>T	ENSP00000504257.1:n.*716C>T
ENST00000679189.1:c.1609C>T	ENSP00000503356.1:p.Leu537=
ENST00000341012.11:c.1798C>T	ENSP00000343034.7:p.Leu600=
ENST00000372220.4:c.823C>T	ENSP00000361294.4:p.Leu275=
ENST00000372228.7:c.2026C>T	ENSP00000361302.3:p.Leu676=
ENST00000402686.7:c.1960C>T	ENSP00000385797.3:p.Leu654=
ENST00000404875.6:c.1609C>T	ENSP00000384531.2:p.Leu537=
ENST00000423007.5:c.1960C>T	ENSP00000404119.1:p.Leu654=
ENST00000485278.5:n.2510C>T
ENST00000494883.1:n.503C>T
NM_001077365.1:c.1960C>T	NP_001070833.1:p.Leu654=
NM_001077366.1:c.1798C>T	NP_001070834.1:p.Leu600=
NM_001136113.1:c.1960C>T	NP_001129585.1:p.Leu654=
NM_001136114.1:c.1609C>T	NP_001129586.1:p.Leu537=
NM_007171.3:c.2026C>T	NP_009102.3:p.Leu676=
XM_005272156.1:c.2026C>T	XP_005272213.1:p.Leu676=
XM_005272158.1:c.1864C>T	XP_005272215.1:p.Leu622=
XM_005272159.1:c.1675C>T	XP_005272216.1:p.Leu559=
XM_005272162.1:c.829C>T	XP_005272219.1:p.Leu277=
XM_006716932.1:c.1675C>T	XP_006716995.1:p.Leu559=
XM_011518140.1:c.1879C>T	XP_011516442.1:p.Leu627=
XM_011518141.1:c.1813C>T	XP_011516443.1:p.Leu605=
XM_011518142.1:c.1717C>T	XP_011516444.1:p.Leu573=
XM_011518143.1:c.1711C>T	XP_011516445.1:p.Leu571=
XM_011518145.1:c.1570C>T	XP_011516447.1:p.Leu524=
XM_011518147.1:c.898C>T	XP_011516449.1:p.Leu300=
XR_929703.1:n.2202C>T
NM_001353193.1:c.2026C>T	NP_001340122.1:p.Leu676=
NM_001353194.1:c.1798C>T	NP_001340123.1:p.Leu600=
NM_001353195.1:c.1609C>T	NP_001340124.1:p.Leu537=
NM_001353196.1:c.1870C>T	NP_001340125.1:p.Leu624=
NM_001353197.1:c.1864C>T	NP_001340126.1:p.Leu622=
NM_001353198.1:c.1864C>T	NP_001340127.1:p.Leu622=
NM_001353199.1:c.1675C>T	NP_001340128.1:p.Leu559=
NM_001353200.1:c.1504C>T	NP_001340129.1:p.Leu502=
NR_148391.1:n.2010C>T
NR_148392.1:n.2228C>T
NR_148393.1:n.2149C>T
NR_148394.1:n.1903C>T
NR_148395.1:n.2301C>T
NR_148396.1:n.1935C>T
NR_148397.1:n.2060C>T
NR_148398.1:n.2015C>T
NR_148399.1:n.2541C>T
NR_148400.1:n.2140C>T
XM_005272162.3:c.829C>T	XP_005272219.1:p.Leu277=
XM_006716932.2:c.1675C>T	XP_006716995.1:p.Leu559=
XM_011518140.2:c.1879C>T	XP_011516442.1:p.Leu627=
XM_011518141.2:c.1813C>T	XP_011516443.1:p.Leu605=
XM_011518142.2:c.1717C>T	XP_011516444.1:p.Leu573=
XM_011518143.2:c.1711C>T	XP_011516445.1:p.Leu571=
XM_011518145.2:c.1570C>T	XP_011516447.1:p.Leu524=
XM_017014205.2:c.829C>T	XP_016869694.1:p.Leu277=
XM_024447380.1:c.829C>T	XP_024303148.1:p.Leu277=
XM_024447381.1:c.1135C>T	XP_024303149.1:p.Leu379=
XM_024447382.1:c.829C>T	XP_024303150.1:p.Leu277=
XR_001746160.2:n.2130C>T
XR_001746162.2:n.2335C>T
XR_001746164.1:n.2052C>T
XR_001746166.2:n.2347C>T
NM_001077365.2:c.1960C>T MANE Select	NP_001070833.1:p.Leu654=
NM_001077366.2:c.1798C>T	NP_001070834.1:p.Leu600=
NM_001136113.2:c.1960C>T	NP_001129585.1:p.Leu654=
NM_001136114.2:c.1609C>T	NP_001129586.1:p.Leu537=
NM_001353193.2:c.2026C>T	NP_001340122.2:p.Leu676=
NM_001353194.2:c.1798C>T	NP_001340123.1:p.Leu600=
NM_001353195.2:c.1609C>T	NP_001340124.1:p.Leu537=
NM_001353196.2:c.1870C>T	NP_001340125.1:p.Leu624=
NM_001353197.2:c.1864C>T	NP_001340126.2:p.Leu622=
NM_001353198.2:c.1864C>T	NP_001340127.2:p.Leu622=
NM_001353199.2:c.1675C>T	NP_001340128.2:p.Leu559=
NM_001353200.2:c.1504C>T	NP_001340129.1:p.Leu502=
NM_001374689.1:c.1948C>T	NP_001361618.1:p.Leu650=
NM_001374690.1:c.1741C>T	NP_001361619.1:p.Leu581=
NM_001374691.1:c.1609C>T	NP_001361620.1:p.Leu537=
NM_001374692.1:c.1609C>T	NP_001361621.1:p.Leu537=
NM_001374693.1:c.1609C>T	NP_001361622.1:p.Leu537=
NM_001374695.1:c.1570C>T	NP_001361624.1:p.Leu524=
NM_007171.4:c.2026C>T	NP_009102.4:p.Leu676=
NR_148391.2:n.1994C>T
NR_148392.2:n.2212C>T
NR_148393.2:n.2133C>T
NR_148394.2:n.1887C>T
NR_148395.2:n.2285C>T
NR_148396.2:n.1919C>T
NR_148397.2:n.2044C>T
NR_148398.2:n.1999C>T
NR_148399.2:n.2525C>T
NR_148400.2:n.2124C>T