Canonical Allele Identifier: CA467423879

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134396834A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131521447A>T , CM000671.2:g.131521447A>T	GRCh38
NC_000009.11:g.134396834A>T , CM000671.1:g.134396834A>T	GRCh37
NC_000009.10:g.133386655A>T	NCBI36
NG_008896.1:g.23546A>T
NG_008896.2:g.23546A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1638A>T	ENSP00000343034.7:p.Arg546=
ENST00000404875.7:n.2340A>T
ENST00000423007.6:c.1857A>T	ENSP00000404119.2:p.Arg619=
ENST00000677295.2:c.*2144A>T	ENSP00000504346.2:n.*2144A>T
ENST00000678264.2:c.*1983A>T	ENSP00000503157.2:n.*1983A>T
ENST00000682070.1:n.2265A>T
ENST00000682813.1:n.2204A>T
ENST00000683392.1:n.4547A>T
ENST00000683712.1:n.2205A>T
ENST00000683900.1:n.3700A>T
ENST00000684062.1:n.2466A>T
ENST00000684579.1:n.3646A>T
ENST00000684679.1:n.1027A>T
ENST00000341012.12:c.1638A>T	ENSP00000343034.7:p.Arg546=
ENST00000372220.5:c.669A>T	ENSP00000361294.5:p.Arg223=
ENST00000372228.9:c.1866A>T	ENSP00000361302.3:p.Arg622=
ENST00000402686.8:c.1800A>T MANE Select	ENSP00000385797.4:p.Arg600=
ENST00000676640.1:c.1800A>T	ENSP00000503281.1:p.Arg600=
ENST00000676803.1:c.861A>T	ENSP00000503093.1:p.Arg287=
ENST00000676835.1:c.*1015A>T	ENSP00000502911.1:n.*1015A>T
ENST00000677029.1:c.1344A>T	ENSP00000502936.1:p.Arg448=
ENST00000677099.1:c.*1510A>T	ENSP00000504553.1:n.*1510A>T
ENST00000677216.1:c.1449A>T	ENSP00000503772.1:p.Arg483=
ENST00000677221.1:n.825A>T
ENST00000677295.1:c.*1177A>T	ENSP00000504346.1:n.*1177A>T
ENST00000677444.1:c.1745A>T
ENST00000677586.1:n.1167A>T
ENST00000677626.1:c.1449A>T	ENSP00000503552.1:p.Arg483=
ENST00000677853.1:c.*808A>T	ENSP00000503488.1:n.*808A>T
ENST00000678202.1:n.959A>T
ENST00000678264.1:c.*1177A>T	ENSP00000503157.1:n.*1177A>T
ENST00000678303.1:c.1710A>T	ENSP00000503696.1:p.Arg570=
ENST00000678366.1:c.*2049A>T	ENSP00000504353.1:n.*2049A>T
ENST00000678546.1:c.*1745A>T	ENSP00000503062.1:n.*1745A>T
ENST00000678548.1:c.*1872A>T	ENSP00000503934.1:n.*1872A>T
ENST00000678626.1:n.1636A>T
ENST00000678739.1:c.*2121A>T	ENSP00000503806.1:n.*2121A>T
ENST00000678833.1:c.*1552A>T	ENSP00000503893.1:n.*1552A>T
ENST00000679023.1:c.1638A>T	ENSP00000503718.1:p.Arg546=
ENST00000679076.1:c.1419A>T
ENST00000679111.1:c.*556A>T	ENSP00000504257.1:n.*556A>T
ENST00000679189.1:c.1449A>T	ENSP00000503356.1:p.Arg483=
ENST00000341012.11:c.1638A>T	ENSP00000343034.7:p.Arg546=
ENST00000372220.4:c.663A>T	ENSP00000361294.4:p.Arg221=
ENST00000372228.7:c.1866A>T	ENSP00000361302.3:p.Arg622=
ENST00000402686.7:c.1800A>T	ENSP00000385797.3:p.Arg600=
ENST00000404875.6:c.1449A>T	ENSP00000384531.2:p.Arg483=
ENST00000423007.5:c.1800A>T	ENSP00000404119.1:p.Arg600=
ENST00000485278.5:n.2350A>T
ENST00000494883.1:n.343A>T
NM_001077365.1:c.1800A>T	NP_001070833.1:p.Arg600=
NM_001077366.1:c.1638A>T	NP_001070834.1:p.Arg546=
NM_001136113.1:c.1800A>T	NP_001129585.1:p.Arg600=
NM_001136114.1:c.1449A>T	NP_001129586.1:p.Arg483=
NM_007171.3:c.1866A>T	NP_009102.3:p.Arg622=
XM_005272156.1:c.1866A>T	XP_005272213.1:p.Arg622=
XM_005272158.1:c.1704A>T	XP_005272215.1:p.Arg568=
XM_005272159.1:c.1515A>T	XP_005272216.1:p.Arg505=
XM_005272162.1:c.669A>T	XP_005272219.1:p.Arg223=
XM_006716932.1:c.1515A>T	XP_006716995.1:p.Arg505=
XM_011518140.1:c.1719A>T	XP_011516442.1:p.Arg573=
XM_011518141.1:c.1653A>T	XP_011516443.1:p.Arg551=
XM_011518142.1:c.1557A>T	XP_011516444.1:p.Arg519=
XM_011518143.1:c.1551A>T	XP_011516445.1:p.Arg517=
XM_011518145.1:c.1410A>T	XP_011516447.1:p.Arg470=
XM_011518147.1:c.738A>T	XP_011516449.1:p.Arg246=
XR_929703.1:n.2042A>T
NM_001353193.1:c.1866A>T	NP_001340122.1:p.Arg622=
NM_001353194.1:c.1638A>T	NP_001340123.1:p.Arg546=
NM_001353195.1:c.1449A>T	NP_001340124.1:p.Arg483=
NM_001353196.1:c.1710A>T	NP_001340125.1:p.Arg570=
NM_001353197.1:c.1704A>T	NP_001340126.1:p.Arg568=
NM_001353198.1:c.1704A>T	NP_001340127.1:p.Arg568=
NM_001353199.1:c.1515A>T	NP_001340128.1:p.Arg505=
NM_001353200.1:c.1344A>T	NP_001340129.1:p.Arg448=
NR_148391.1:n.1850A>T
NR_148392.1:n.2068A>T
NR_148393.1:n.1989A>T
NR_148394.1:n.1743A>T
NR_148395.1:n.2141A>T
NR_148396.1:n.1775A>T
NR_148397.1:n.1900A>T
NR_148398.1:n.1855A>T
NR_148399.1:n.2381A>T
NR_148400.1:n.1980A>T
XM_005272162.3:c.669A>T	XP_005272219.1:p.Arg223=
XM_006716932.2:c.1515A>T	XP_006716995.1:p.Arg505=
XM_011518140.2:c.1719A>T	XP_011516442.1:p.Arg573=
XM_011518141.2:c.1653A>T	XP_011516443.1:p.Arg551=
XM_011518142.2:c.1557A>T	XP_011516444.1:p.Arg519=
XM_011518143.2:c.1551A>T	XP_011516445.1:p.Arg517=
XM_011518145.2:c.1410A>T	XP_011516447.1:p.Arg470=
XM_017014205.2:c.669A>T	XP_016869694.1:p.Arg223=
XM_024447380.1:c.669A>T	XP_024303148.1:p.Arg223=
XM_024447381.1:c.975A>T	XP_024303149.1:p.Arg325=
XM_024447382.1:c.669A>T	XP_024303150.1:p.Arg223=
XR_001746160.2:n.1970A>T
XR_001746162.2:n.2175A>T
XR_001746164.1:n.1892A>T
XR_001746166.2:n.2187A>T
NM_001077365.2:c.1800A>T MANE Select	NP_001070833.1:p.Arg600=
NM_001077366.2:c.1638A>T	NP_001070834.1:p.Arg546=
NM_001136113.2:c.1800A>T	NP_001129585.1:p.Arg600=
NM_001136114.2:c.1449A>T	NP_001129586.1:p.Arg483=
NM_001353193.2:c.1866A>T	NP_001340122.2:p.Arg622=
NM_001353194.2:c.1638A>T	NP_001340123.1:p.Arg546=
NM_001353195.2:c.1449A>T	NP_001340124.1:p.Arg483=
NM_001353196.2:c.1710A>T	NP_001340125.1:p.Arg570=
NM_001353197.2:c.1704A>T	NP_001340126.2:p.Arg568=
NM_001353198.2:c.1704A>T	NP_001340127.2:p.Arg568=
NM_001353199.2:c.1515A>T	NP_001340128.2:p.Arg505=
NM_001353200.2:c.1344A>T	NP_001340129.1:p.Arg448=
NM_001374689.1:c.1788A>T	NP_001361618.1:p.Arg596=
NM_001374690.1:c.1581A>T	NP_001361619.1:p.Arg527=
NM_001374691.1:c.1449A>T	NP_001361620.1:p.Arg483=
NM_001374692.1:c.1449A>T	NP_001361621.1:p.Arg483=
NM_001374693.1:c.1449A>T	NP_001361622.1:p.Arg483=
NM_001374695.1:c.1410A>T	NP_001361624.1:p.Arg470=
NM_007171.4:c.1866A>T	NP_009102.4:p.Arg622=
NR_148391.2:n.1834A>T
NR_148392.2:n.2052A>T
NR_148393.2:n.1973A>T
NR_148394.2:n.1727A>T
NR_148395.2:n.2125A>T
NR_148396.2:n.1759A>T
NR_148397.2:n.1884A>T
NR_148398.2:n.1839A>T
NR_148399.2:n.2365A>T
NR_148400.2:n.1964A>T