Canonical Allele Identifier: CA467423840

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134396787C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131521400C>T , CM000671.2:g.131521400C>T	GRCh38
NC_000009.11:g.134396787C>T , CM000671.1:g.134396787C>T	GRCh37
NC_000009.10:g.133386608C>T	NCBI36
NG_008896.1:g.23499C>T
NG_008896.2:g.23499C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1591C>T	ENSP00000343034.7:p.Leu531=
ENST00000404875.7:n.2293C>T
ENST00000423007.6:c.1810C>T	ENSP00000404119.2:p.Leu604=
ENST00000677295.2:c.*2097C>T	ENSP00000504346.2:n.*2097C>T
ENST00000678264.2:c.*1936C>T	ENSP00000503157.2:n.*1936C>T
ENST00000682070.1:n.2218C>T
ENST00000682813.1:n.2157C>T
ENST00000683392.1:n.4500C>T
ENST00000683712.1:n.2158C>T
ENST00000683900.1:n.3653C>T
ENST00000684062.1:n.2419C>T
ENST00000684579.1:n.3599C>T
ENST00000684679.1:n.980C>T
ENST00000341012.12:c.1591C>T	ENSP00000343034.7:p.Leu531=
ENST00000372220.5:c.622C>T	ENSP00000361294.5:p.Leu208=
ENST00000372228.9:c.1819C>T	ENSP00000361302.3:p.Leu607=
ENST00000402686.8:c.1753C>T MANE Select	ENSP00000385797.4:p.Leu585=
ENST00000676640.1:c.1753C>T	ENSP00000503281.1:p.Leu585=
ENST00000676803.1:c.814C>T	ENSP00000503093.1:p.Leu272=
ENST00000676835.1:c.*968C>T	ENSP00000502911.1:n.*968C>T
ENST00000677029.1:c.1297C>T	ENSP00000502936.1:p.Leu433=
ENST00000677099.1:c.*1463C>T	ENSP00000504553.1:n.*1463C>T
ENST00000677216.1:c.1402C>T	ENSP00000503772.1:p.Leu468=
ENST00000677221.1:n.778C>T
ENST00000677295.1:c.*1130C>T	ENSP00000504346.1:n.*1130C>T
ENST00000677444.1:c.1698C>T
ENST00000677586.1:n.1120C>T
ENST00000677626.1:c.1402C>T	ENSP00000503552.1:p.Leu468=
ENST00000677853.1:c.*761C>T	ENSP00000503488.1:n.*761C>T
ENST00000678202.1:n.912C>T
ENST00000678264.1:c.*1130C>T	ENSP00000503157.1:n.*1130C>T
ENST00000678303.1:c.1663C>T	ENSP00000503696.1:p.Leu555=
ENST00000678366.1:c.*2002C>T	ENSP00000504353.1:n.*2002C>T
ENST00000678546.1:c.*1698C>T	ENSP00000503062.1:n.*1698C>T
ENST00000678548.1:c.*1825C>T	ENSP00000503934.1:n.*1825C>T
ENST00000678626.1:n.1589C>T
ENST00000678739.1:c.*2074C>T	ENSP00000503806.1:n.*2074C>T
ENST00000678833.1:c.*1505C>T	ENSP00000503893.1:n.*1505C>T
ENST00000679023.1:c.1591C>T	ENSP00000503718.1:p.Leu531=
ENST00000679076.1:c.1372C>T
ENST00000679111.1:c.*509C>T	ENSP00000504257.1:n.*509C>T
ENST00000679189.1:c.1402C>T	ENSP00000503356.1:p.Leu468=
ENST00000341012.11:c.1591C>T	ENSP00000343034.7:p.Leu531=
ENST00000372220.4:c.616C>T	ENSP00000361294.4:p.Leu206=
ENST00000372228.7:c.1819C>T	ENSP00000361302.3:p.Leu607=
ENST00000402686.7:c.1753C>T	ENSP00000385797.3:p.Leu585=
ENST00000404875.6:c.1402C>T	ENSP00000384531.2:p.Leu468=
ENST00000423007.5:c.1753C>T	ENSP00000404119.1:p.Leu585=
ENST00000467848.1:n.457C>T
ENST00000485278.5:n.2303C>T
ENST00000494883.1:n.296C>T
NM_001077365.1:c.1753C>T	NP_001070833.1:p.Leu585=
NM_001077366.1:c.1591C>T	NP_001070834.1:p.Leu531=
NM_001136113.1:c.1753C>T	NP_001129585.1:p.Leu585=
NM_001136114.1:c.1402C>T	NP_001129586.1:p.Leu468=
NM_007171.3:c.1819C>T	NP_009102.3:p.Leu607=
XM_005272156.1:c.1819C>T	XP_005272213.1:p.Leu607=
XM_005272158.1:c.1657C>T	XP_005272215.1:p.Leu553=
XM_005272159.1:c.1468C>T	XP_005272216.1:p.Leu490=
XM_005272162.1:c.622C>T	XP_005272219.1:p.Leu208=
XM_006716932.1:c.1468C>T	XP_006716995.1:p.Leu490=
XM_011518140.1:c.1672C>T	XP_011516442.1:p.Leu558=
XM_011518141.1:c.1606C>T	XP_011516443.1:p.Leu536=
XM_011518142.1:c.1510C>T	XP_011516444.1:p.Leu504=
XM_011518143.1:c.1504C>T	XP_011516445.1:p.Leu502=
XM_011518145.1:c.1363C>T	XP_011516447.1:p.Leu455=
XM_011518147.1:c.691C>T	XP_011516449.1:p.Leu231=
XR_929703.1:n.1995C>T
NM_001353193.1:c.1819C>T	NP_001340122.1:p.Leu607=
NM_001353194.1:c.1591C>T	NP_001340123.1:p.Leu531=
NM_001353195.1:c.1402C>T	NP_001340124.1:p.Leu468=
NM_001353196.1:c.1663C>T	NP_001340125.1:p.Leu555=
NM_001353197.1:c.1657C>T	NP_001340126.1:p.Leu553=
NM_001353198.1:c.1657C>T	NP_001340127.1:p.Leu553=
NM_001353199.1:c.1468C>T	NP_001340128.1:p.Leu490=
NM_001353200.1:c.1297C>T	NP_001340129.1:p.Leu433=
NR_148391.1:n.1803C>T
NR_148392.1:n.2021C>T
NR_148393.1:n.1942C>T
NR_148394.1:n.1696C>T
NR_148395.1:n.2094C>T
NR_148396.1:n.1728C>T
NR_148397.1:n.1853C>T
NR_148398.1:n.1808C>T
NR_148399.1:n.2334C>T
NR_148400.1:n.1933C>T
XM_005272162.3:c.622C>T	XP_005272219.1:p.Leu208=
XM_006716932.2:c.1468C>T	XP_006716995.1:p.Leu490=
XM_011518140.2:c.1672C>T	XP_011516442.1:p.Leu558=
XM_011518141.2:c.1606C>T	XP_011516443.1:p.Leu536=
XM_011518142.2:c.1510C>T	XP_011516444.1:p.Leu504=
XM_011518143.2:c.1504C>T	XP_011516445.1:p.Leu502=
XM_011518145.2:c.1363C>T	XP_011516447.1:p.Leu455=
XM_017014205.2:c.622C>T	XP_016869694.1:p.Leu208=
XM_024447380.1:c.622C>T	XP_024303148.1:p.Leu208=
XM_024447381.1:c.928C>T	XP_024303149.1:p.Leu310=
XM_024447382.1:c.622C>T	XP_024303150.1:p.Leu208=
XR_001746160.2:n.1923C>T
XR_001746162.2:n.2128C>T
XR_001746164.1:n.1845C>T
XR_001746166.2:n.2140C>T
NM_001077365.2:c.1753C>T MANE Select	NP_001070833.1:p.Leu585=
NM_001077366.2:c.1591C>T	NP_001070834.1:p.Leu531=
NM_001136113.2:c.1753C>T	NP_001129585.1:p.Leu585=
NM_001136114.2:c.1402C>T	NP_001129586.1:p.Leu468=
NM_001353193.2:c.1819C>T	NP_001340122.2:p.Leu607=
NM_001353194.2:c.1591C>T	NP_001340123.1:p.Leu531=
NM_001353195.2:c.1402C>T	NP_001340124.1:p.Leu468=
NM_001353196.2:c.1663C>T	NP_001340125.1:p.Leu555=
NM_001353197.2:c.1657C>T	NP_001340126.2:p.Leu553=
NM_001353198.2:c.1657C>T	NP_001340127.2:p.Leu553=
NM_001353199.2:c.1468C>T	NP_001340128.2:p.Leu490=
NM_001353200.2:c.1297C>T	NP_001340129.1:p.Leu433=
NM_001374689.1:c.1741C>T	NP_001361618.1:p.Leu581=
NM_001374690.1:c.1534C>T	NP_001361619.1:p.Leu512=
NM_001374691.1:c.1402C>T	NP_001361620.1:p.Leu468=
NM_001374692.1:c.1402C>T	NP_001361621.1:p.Leu468=
NM_001374693.1:c.1402C>T	NP_001361622.1:p.Leu468=
NM_001374695.1:c.1363C>T	NP_001361624.1:p.Leu455=
NM_007171.4:c.1819C>T	NP_009102.4:p.Leu607=
NR_148391.2:n.1787C>T
NR_148392.2:n.2005C>T
NR_148393.2:n.1926C>T
NR_148394.2:n.1680C>T
NR_148395.2:n.2078C>T
NR_148396.2:n.1712C>T
NR_148397.2:n.1837C>T
NR_148398.2:n.1792C>T
NR_148399.2:n.2318C>T
NR_148400.2:n.1917C>T