Canonical Allele Identifier: CA467424250

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134398484A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523097A>T , CM000671.2:g.131523097A>T	GRCh38
NC_000009.11:g.134398484A>T , CM000671.1:g.134398484A>T	GRCh37
NC_000009.10:g.133388305A>T	NCBI36
NG_008896.1:g.25196A>T
NG_008896.2:g.25196A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.2007A>T	ENSP00000343034.7:p.Arg669=
ENST00000404875.7:n.2709A>T
ENST00000423007.6:c.2226A>T	ENSP00000404119.2:p.Arg742=
ENST00000677295.2:c.*2513A>T	ENSP00000504346.2:n.*2513A>T
ENST00000678264.2:c.*2352A>T	ENSP00000503157.2:n.*2352A>T
ENST00000682070.1:n.2479A>T
ENST00000682639.1:c.166A>T
ENST00000682813.1:n.2566A>T
ENST00000683231.1:c.166A>T
ENST00000683392.1:n.4761A>T
ENST00000683712.1:n.2574A>T
ENST00000683900.1:n.4069A>T
ENST00000684062.1:n.2835A>T
ENST00000684399.1:c.166A>T
ENST00000684579.1:n.4015A>T
ENST00000341012.12:c.2007A>T	ENSP00000343034.7:p.Arg669=
ENST00000372220.5:c.1038A>T	ENSP00000361294.5:p.Arg346=
ENST00000372228.9:c.2235A>T	ENSP00000361302.3:p.Arg745=
ENST00000402686.8:c.2169A>T MANE Select	ENSP00000385797.4:p.Arg723=
ENST00000676640.1:c.2169A>T	ENSP00000503281.1:p.Arg723=
ENST00000676803.1:c.1230A>T	ENSP00000503093.1:p.Arg410=
ENST00000676835.1:c.*1384A>T	ENSP00000502911.1:n.*1384A>T
ENST00000677029.1:c.1713A>T	ENSP00000502936.1:p.Arg571=
ENST00000677099.1:c.*1879A>T	ENSP00000504553.1:n.*1879A>T
ENST00000677216.1:c.1818A>T	ENSP00000503772.1:p.Arg606=
ENST00000677295.1:c.*1391A>T	ENSP00000504346.1:n.*1391A>T
ENST00000677444.1:c.2114A>T
ENST00000677586.1:n.1536A>T
ENST00000677626.1:c.1818A>T	ENSP00000503552.1:p.Arg606=
ENST00000677853.1:c.*1177A>T	ENSP00000503488.1:n.*1177A>T
ENST00000678264.1:c.*1546A>T	ENSP00000503157.1:n.*1546A>T
ENST00000678303.1:c.2079A>T	ENSP00000503696.1:p.Arg693=
ENST00000678366.1:c.*2418A>T	ENSP00000504353.1:n.*2418A>T
ENST00000678546.1:c.*2114A>T	ENSP00000503062.1:n.*2114A>T
ENST00000678548.1:c.*2308A>T	ENSP00000503934.1:n.*2308A>T
ENST00000678626.1:n.2005A>T
ENST00000678739.1:c.*2335A>T	ENSP00000503806.1:n.*2335A>T
ENST00000678833.1:c.*1921A>T	ENSP00000503893.1:n.*1921A>T
ENST00000679023.1:c.2007A>T	ENSP00000503718.1:p.Arg669=
ENST00000679076.1:c.1788A>T
ENST00000679111.1:c.*925A>T	ENSP00000504257.1:n.*925A>T
ENST00000679189.1:c.1818A>T	ENSP00000503356.1:p.Arg606=
ENST00000341012.11:c.2007A>T	ENSP00000343034.7:p.Arg669=
ENST00000372220.4:c.1032A>T	ENSP00000361294.4:p.Arg344=
ENST00000372228.7:c.2235A>T	ENSP00000361302.3:p.Arg745=
ENST00000402686.7:c.2169A>T	ENSP00000385797.3:p.Arg723=
ENST00000404875.6:c.1818A>T	ENSP00000384531.2:p.Arg606=
ENST00000423007.5:c.2169A>T	ENSP00000404119.1:p.Arg723=
ENST00000485278.5:n.2719A>T
NM_001077365.1:c.2169A>T	NP_001070833.1:p.Arg723=
NM_001077366.1:c.2007A>T	NP_001070834.1:p.Arg669=
NM_001136113.1:c.2169A>T	NP_001129585.1:p.Arg723=
NM_001136114.1:c.1818A>T	NP_001129586.1:p.Arg606=
NM_007171.3:c.2235A>T	NP_009102.3:p.Arg745=
XM_005272156.1:c.2235A>T	XP_005272213.1:p.Arg745=
XM_005272158.1:c.2073A>T	XP_005272215.1:p.Arg691=
XM_005272159.1:c.1884A>T	XP_005272216.1:p.Arg628=
XM_005272162.1:c.1038A>T	XP_005272219.1:p.Arg346=
XM_006716932.1:c.1884A>T	XP_006716995.1:p.Arg628=
XM_011518140.1:c.2088A>T	XP_011516442.1:p.Arg696=
XM_011518141.1:c.2022A>T	XP_011516443.1:p.Arg674=
XM_011518142.1:c.1926A>T	XP_011516444.1:p.Arg642=
XM_011518143.1:c.1920A>T	XP_011516445.1:p.Arg640=
XM_011518145.1:c.1779A>T	XP_011516447.1:p.Arg593=
XM_011518147.1:c.1107A>T	XP_011516449.1:p.Arg369=
XR_929703.1:n.2411A>T
NM_001353193.1:c.2235A>T	NP_001340122.1:p.Arg745=
NM_001353194.1:c.2007A>T	NP_001340123.1:p.Arg669=
NM_001353195.1:c.1818A>T	NP_001340124.1:p.Arg606=
NM_001353196.1:c.2079A>T	NP_001340125.1:p.Arg693=
NM_001353197.1:c.2073A>T	NP_001340126.1:p.Arg691=
NM_001353198.1:c.2073A>T	NP_001340127.1:p.Arg691=
NM_001353199.1:c.1884A>T	NP_001340128.1:p.Arg628=
NM_001353200.1:c.1713A>T	NP_001340129.1:p.Arg571=
NR_148391.1:n.2219A>T
NR_148392.1:n.2437A>T
NR_148393.1:n.2358A>T
NR_148394.1:n.2112A>T
NR_148395.1:n.2510A>T
NR_148396.1:n.2144A>T
NR_148397.1:n.2269A>T
NR_148398.1:n.2224A>T
NR_148399.1:n.2750A>T
NR_148400.1:n.2349A>T
XM_005272162.3:c.1038A>T	XP_005272219.1:p.Arg346=
XM_006716932.2:c.1884A>T	XP_006716995.1:p.Arg628=
XM_011518140.2:c.2088A>T	XP_011516442.1:p.Arg696=
XM_011518141.2:c.2022A>T	XP_011516443.1:p.Arg674=
XM_011518142.2:c.1926A>T	XP_011516444.1:p.Arg642=
XM_011518143.2:c.1920A>T	XP_011516445.1:p.Arg640=
XM_011518145.2:c.1779A>T	XP_011516447.1:p.Arg593=
XM_017014205.2:c.1038A>T	XP_016869694.1:p.Arg346=
XM_024447380.1:c.1038A>T	XP_024303148.1:p.Arg346=
XM_024447381.1:c.1344A>T	XP_024303149.1:p.Arg448=
XM_024447382.1:c.1038A>T	XP_024303150.1:p.Arg346=
XR_001746160.2:n.2339A>T
XR_001746162.2:n.2544A>T
XR_001746164.1:n.2261A>T
XR_001746166.2:n.2556A>T
NM_001077365.2:c.2169A>T MANE Select	NP_001070833.1:p.Arg723=
NM_001077366.2:c.2007A>T	NP_001070834.1:p.Arg669=
NM_001136113.2:c.2169A>T	NP_001129585.1:p.Arg723=
NM_001136114.2:c.1818A>T	NP_001129586.1:p.Arg606=
NM_001353193.2:c.2235A>T	NP_001340122.2:p.Arg745=
NM_001353194.2:c.2007A>T	NP_001340123.1:p.Arg669=
NM_001353195.2:c.1818A>T	NP_001340124.1:p.Arg606=
NM_001353196.2:c.2079A>T	NP_001340125.1:p.Arg693=
NM_001353197.2:c.2073A>T	NP_001340126.2:p.Arg691=
NM_001353198.2:c.2073A>T	NP_001340127.2:p.Arg691=
NM_001353199.2:c.1884A>T	NP_001340128.2:p.Arg628=
NM_001353200.2:c.1713A>T	NP_001340129.1:p.Arg571=
NM_001374689.1:c.2157A>T	NP_001361618.1:p.Arg719=
NM_001374690.1:c.1950A>T	NP_001361619.1:p.Arg650=
NM_001374691.1:c.1818A>T	NP_001361620.1:p.Arg606=
NM_001374692.1:c.1818A>T	NP_001361621.1:p.Arg606=
NM_001374693.1:c.1818A>T	NP_001361622.1:p.Arg606=
NM_001374695.1:c.1779A>T	NP_001361624.1:p.Arg593=
NM_007171.4:c.2235A>T	NP_009102.4:p.Arg745=
NR_148391.2:n.2203A>T
NR_148392.2:n.2421A>T
NR_148393.2:n.2342A>T
NR_148394.2:n.2096A>T
NR_148395.2:n.2494A>T
NR_148396.2:n.2128A>T
NR_148397.2:n.2253A>T
NR_148398.2:n.2208A>T
NR_148399.2:n.2734A>T
NR_148400.2:n.2333A>T