Canonical Allele Identifier: CA467424010

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134397447C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522060C>T , CM000671.2:g.131522060C>T	GRCh38
NC_000009.11:g.134397447C>T , CM000671.1:g.134397447C>T	GRCh37
NC_000009.10:g.133387268C>T	NCBI36
NG_008896.1:g.24159C>T
NG_008896.2:g.24159C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.1677C>T	ENSP00000343034.7:p.Arg559=
ENST00000404875.7:n.2379C>T
ENST00000423007.6:c.1896C>T	ENSP00000404119.2:p.Arg632=
ENST00000677295.2:c.*2183C>T	ENSP00000504346.2:n.*2183C>T
ENST00000678264.2:c.*2022C>T	ENSP00000503157.2:n.*2022C>T
ENST00000682070.1:n.2291-142C>T
ENST00000682813.1:n.2243C>T
ENST00000683392.1:n.4573-142C>T
ENST00000683712.1:n.2244C>T
ENST00000683900.1:n.3739C>T
ENST00000684062.1:n.2505C>T
ENST00000684579.1:n.3685C>T
ENST00000684679.1:n.1066C>T
ENST00000341012.12:c.1677C>T	ENSP00000343034.7:p.Arg559=
ENST00000372220.5:c.708C>T	ENSP00000361294.5:p.Arg236=
ENST00000372228.9:c.1905C>T	ENSP00000361302.3:p.Arg635=
ENST00000402686.8:c.1839C>T MANE Select	ENSP00000385797.4:p.Arg613=
ENST00000676640.1:c.1839C>T	ENSP00000503281.1:p.Arg613=
ENST00000676803.1:c.900C>T	ENSP00000503093.1:p.Arg300=
ENST00000676835.1:c.*1054C>T	ENSP00000502911.1:n.*1054C>T
ENST00000677029.1:c.1383C>T	ENSP00000502936.1:p.Arg461=
ENST00000677099.1:c.*1549C>T	ENSP00000504553.1:n.*1549C>T
ENST00000677216.1:c.1488C>T	ENSP00000503772.1:p.Arg496=
ENST00000677221.1:n.864C>T
ENST00000677295.1:c.*1203-142C>T	ENSP00000504346.1:n.*1203-142C>T
ENST00000677444.1:c.1784C>T
ENST00000677586.1:n.1206C>T
ENST00000677626.1:c.1488C>T	ENSP00000503552.1:p.Arg496=
ENST00000677853.1:c.*847C>T	ENSP00000503488.1:n.*847C>T
ENST00000678202.1:n.998C>T
ENST00000678264.1:c.*1216C>T	ENSP00000503157.1:n.*1216C>T
ENST00000678303.1:c.1749C>T	ENSP00000503696.1:p.Arg583=
ENST00000678366.1:c.*2088C>T	ENSP00000504353.1:n.*2088C>T
ENST00000678546.1:c.*1784C>T	ENSP00000503062.1:n.*1784C>T
ENST00000678548.1:c.*1978C>T	ENSP00000503934.1:n.*1978C>T
ENST00000678626.1:n.1675C>T
ENST00000678739.1:c.*2147-142C>T	ENSP00000503806.1:n.*2147-142C>T
ENST00000678833.1:c.*1591C>T	ENSP00000503893.1:n.*1591C>T
ENST00000679023.1:c.1677C>T	ENSP00000503718.1:p.Arg559=
ENST00000679076.1:c.1458C>T
ENST00000679111.1:c.*595C>T	ENSP00000504257.1:n.*595C>T
ENST00000679189.1:c.1488C>T	ENSP00000503356.1:p.Arg496=
ENST00000341012.11:c.1677C>T	ENSP00000343034.7:p.Arg559=
ENST00000372220.4:c.702C>T	ENSP00000361294.4:p.Arg234=
ENST00000372228.7:c.1905C>T	ENSP00000361302.3:p.Arg635=
ENST00000402686.7:c.1839C>T	ENSP00000385797.3:p.Arg613=
ENST00000404875.6:c.1488C>T	ENSP00000384531.2:p.Arg496=
ENST00000423007.5:c.1839C>T	ENSP00000404119.1:p.Arg613=
ENST00000485278.5:n.2389C>T
ENST00000494883.1:n.382C>T
NM_001077365.1:c.1839C>T	NP_001070833.1:p.Arg613=
NM_001077366.1:c.1677C>T	NP_001070834.1:p.Arg559=
NM_001136113.1:c.1839C>T	NP_001129585.1:p.Arg613=
NM_001136114.1:c.1488C>T	NP_001129586.1:p.Arg496=
NM_007171.3:c.1905C>T	NP_009102.3:p.Arg635=
XM_005272156.1:c.1905C>T	XP_005272213.1:p.Arg635=
XM_005272158.1:c.1743C>T	XP_005272215.1:p.Arg581=
XM_005272159.1:c.1554C>T	XP_005272216.1:p.Arg518=
XM_005272162.1:c.708C>T	XP_005272219.1:p.Arg236=
XM_006716932.1:c.1554C>T	XP_006716995.1:p.Arg518=
XM_011518140.1:c.1758C>T	XP_011516442.1:p.Arg586=
XM_011518141.1:c.1692C>T	XP_011516443.1:p.Arg564=
XM_011518142.1:c.1596C>T	XP_011516444.1:p.Arg532=
XM_011518143.1:c.1590C>T	XP_011516445.1:p.Arg530=
XM_011518145.1:c.1449C>T	XP_011516447.1:p.Arg483=
XM_011518147.1:c.777C>T	XP_011516449.1:p.Arg259=
XR_929703.1:n.2081C>T
NM_001353193.1:c.1905C>T	NP_001340122.1:p.Arg635=
NM_001353194.1:c.1677C>T	NP_001340123.1:p.Arg559=
NM_001353195.1:c.1488C>T	NP_001340124.1:p.Arg496=
NM_001353196.1:c.1749C>T	NP_001340125.1:p.Arg583=
NM_001353197.1:c.1743C>T	NP_001340126.1:p.Arg581=
NM_001353198.1:c.1743C>T	NP_001340127.1:p.Arg581=
NM_001353199.1:c.1554C>T	NP_001340128.1:p.Arg518=
NM_001353200.1:c.1383C>T	NP_001340129.1:p.Arg461=
NR_148391.1:n.1889C>T
NR_148392.1:n.2107C>T
NR_148393.1:n.2028C>T
NR_148394.1:n.1782C>T
NR_148395.1:n.2180C>T
NR_148396.1:n.1814C>T
NR_148397.1:n.1939C>T
NR_148398.1:n.1894C>T
NR_148399.1:n.2420C>T
NR_148400.1:n.2019C>T
XM_005272162.3:c.708C>T	XP_005272219.1:p.Arg236=
XM_006716932.2:c.1554C>T	XP_006716995.1:p.Arg518=
XM_011518140.2:c.1758C>T	XP_011516442.1:p.Arg586=
XM_011518141.2:c.1692C>T	XP_011516443.1:p.Arg564=
XM_011518142.2:c.1596C>T	XP_011516444.1:p.Arg532=
XM_011518143.2:c.1590C>T	XP_011516445.1:p.Arg530=
XM_011518145.2:c.1449C>T	XP_011516447.1:p.Arg483=
XM_017014205.2:c.708C>T	XP_016869694.1:p.Arg236=
XM_024447380.1:c.708C>T	XP_024303148.1:p.Arg236=
XM_024447381.1:c.1014C>T	XP_024303149.1:p.Arg338=
XM_024447382.1:c.708C>T	XP_024303150.1:p.Arg236=
XR_001746160.2:n.2009C>T
XR_001746162.2:n.2214C>T
XR_001746164.1:n.1931C>T
XR_001746166.2:n.2226C>T
NM_001077365.2:c.1839C>T MANE Select	NP_001070833.1:p.Arg613=
NM_001077366.2:c.1677C>T	NP_001070834.1:p.Arg559=
NM_001136113.2:c.1839C>T	NP_001129585.1:p.Arg613=
NM_001136114.2:c.1488C>T	NP_001129586.1:p.Arg496=
NM_001353193.2:c.1905C>T	NP_001340122.2:p.Arg635=
NM_001353194.2:c.1677C>T	NP_001340123.1:p.Arg559=
NM_001353195.2:c.1488C>T	NP_001340124.1:p.Arg496=
NM_001353196.2:c.1749C>T	NP_001340125.1:p.Arg583=
NM_001353197.2:c.1743C>T	NP_001340126.2:p.Arg581=
NM_001353198.2:c.1743C>T	NP_001340127.2:p.Arg581=
NM_001353199.2:c.1554C>T	NP_001340128.2:p.Arg518=
NM_001353200.2:c.1383C>T	NP_001340129.1:p.Arg461=
NM_001374689.1:c.1827C>T	NP_001361618.1:p.Arg609=
NM_001374690.1:c.1620C>T	NP_001361619.1:p.Arg540=
NM_001374691.1:c.1488C>T	NP_001361620.1:p.Arg496=
NM_001374692.1:c.1488C>T	NP_001361621.1:p.Arg496=
NM_001374693.1:c.1488C>T	NP_001361622.1:p.Arg496=
NM_001374695.1:c.1449C>T	NP_001361624.1:p.Arg483=
NM_007171.4:c.1905C>T	NP_009102.4:p.Arg635=
NR_148391.2:n.1873C>T
NR_148392.2:n.2091C>T
NR_148393.2:n.2012C>T
NR_148394.2:n.1766C>T
NR_148395.2:n.2164C>T
NR_148396.2:n.1798C>T
NR_148397.2:n.1923C>T
NR_148398.2:n.1878C>T
NR_148399.2:n.2404C>T
NR_148400.2:n.2003C>T