Canonical Allele Identifier: CA467424240

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134398472C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523085C>T , CM000671.2:g.131523085C>T	GRCh38
NC_000009.11:g.134398472C>T , CM000671.1:g.134398472C>T	GRCh37
NC_000009.10:g.133388293C>T	NCBI36
NG_008896.1:g.25184C>T
NG_008896.2:g.25184C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1995C>T	ENSP00000343034.7:p.Asp665=
ENST00000404875.7:n.2697C>T
ENST00000423007.6:c.2214C>T	ENSP00000404119.2:p.Asp738=
ENST00000677295.2:c.*2501C>T	ENSP00000504346.2:n.*2501C>T
ENST00000678264.2:c.*2340C>T	ENSP00000503157.2:n.*2340C>T
ENST00000682070.1:n.2467C>T
ENST00000682639.1:c.154C>T
ENST00000682813.1:n.2554C>T
ENST00000683231.1:c.154C>T
ENST00000683392.1:n.4749C>T
ENST00000683712.1:n.2562C>T
ENST00000683900.1:n.4057C>T
ENST00000684062.1:n.2823C>T
ENST00000684399.1:c.154C>T
ENST00000684579.1:n.4003C>T
ENST00000341012.12:c.1995C>T	ENSP00000343034.7:p.Asp665=
ENST00000372220.5:c.1026C>T	ENSP00000361294.5:p.Asp342=
ENST00000372228.9:c.2223C>T	ENSP00000361302.3:p.Asp741=
ENST00000402686.8:c.2157C>T MANE Select	ENSP00000385797.4:p.Asp719=
ENST00000676640.1:c.2157C>T	ENSP00000503281.1:p.Asp719=
ENST00000676803.1:c.1218C>T	ENSP00000503093.1:p.Asp406=
ENST00000676835.1:c.*1372C>T	ENSP00000502911.1:n.*1372C>T
ENST00000677029.1:c.1701C>T	ENSP00000502936.1:p.Asp567=
ENST00000677099.1:c.*1867C>T	ENSP00000504553.1:n.*1867C>T
ENST00000677216.1:c.1806C>T	ENSP00000503772.1:p.Asp602=
ENST00000677295.1:c.*1379C>T	ENSP00000504346.1:n.*1379C>T
ENST00000677444.1:c.2102C>T
ENST00000677586.1:n.1524C>T
ENST00000677626.1:c.1806C>T	ENSP00000503552.1:p.Asp602=
ENST00000677853.1:c.*1165C>T	ENSP00000503488.1:n.*1165C>T
ENST00000678264.1:c.*1534C>T	ENSP00000503157.1:n.*1534C>T
ENST00000678303.1:c.2067C>T	ENSP00000503696.1:p.Asp689=
ENST00000678366.1:c.*2406C>T	ENSP00000504353.1:n.*2406C>T
ENST00000678546.1:c.*2102C>T	ENSP00000503062.1:n.*2102C>T
ENST00000678548.1:c.*2296C>T	ENSP00000503934.1:n.*2296C>T
ENST00000678626.1:n.1993C>T
ENST00000678739.1:c.*2323C>T	ENSP00000503806.1:n.*2323C>T
ENST00000678833.1:c.*1909C>T	ENSP00000503893.1:n.*1909C>T
ENST00000679023.1:c.1995C>T	ENSP00000503718.1:p.Asp665=
ENST00000679076.1:c.1776C>T
ENST00000679111.1:c.*913C>T	ENSP00000504257.1:n.*913C>T
ENST00000679189.1:c.1806C>T	ENSP00000503356.1:p.Asp602=
ENST00000341012.11:c.1995C>T	ENSP00000343034.7:p.Asp665=
ENST00000372220.4:c.1020C>T	ENSP00000361294.4:p.Asp340=
ENST00000372228.7:c.2223C>T	ENSP00000361302.3:p.Asp741=
ENST00000402686.7:c.2157C>T	ENSP00000385797.3:p.Asp719=
ENST00000404875.6:c.1806C>T	ENSP00000384531.2:p.Asp602=
ENST00000423007.5:c.2157C>T	ENSP00000404119.1:p.Asp719=
ENST00000485278.5:n.2707C>T
NM_001077365.1:c.2157C>T	NP_001070833.1:p.Asp719=
NM_001077366.1:c.1995C>T	NP_001070834.1:p.Asp665=
NM_001136113.1:c.2157C>T	NP_001129585.1:p.Asp719=
NM_001136114.1:c.1806C>T	NP_001129586.1:p.Asp602=
NM_007171.3:c.2223C>T	NP_009102.3:p.Asp741=
XM_005272156.1:c.2223C>T	XP_005272213.1:p.Asp741=
XM_005272158.1:c.2061C>T	XP_005272215.1:p.Asp687=
XM_005272159.1:c.1872C>T	XP_005272216.1:p.Asp624=
XM_005272162.1:c.1026C>T	XP_005272219.1:p.Asp342=
XM_006716932.1:c.1872C>T	XP_006716995.1:p.Asp624=
XM_011518140.1:c.2076C>T	XP_011516442.1:p.Asp692=
XM_011518141.1:c.2010C>T	XP_011516443.1:p.Asp670=
XM_011518142.1:c.1914C>T	XP_011516444.1:p.Asp638=
XM_011518143.1:c.1908C>T	XP_011516445.1:p.Asp636=
XM_011518145.1:c.1767C>T	XP_011516447.1:p.Asp589=
XM_011518147.1:c.1095C>T	XP_011516449.1:p.Asp365=
XR_929703.1:n.2399C>T
NM_001353193.1:c.2223C>T	NP_001340122.1:p.Asp741=
NM_001353194.1:c.1995C>T	NP_001340123.1:p.Asp665=
NM_001353195.1:c.1806C>T	NP_001340124.1:p.Asp602=
NM_001353196.1:c.2067C>T	NP_001340125.1:p.Asp689=
NM_001353197.1:c.2061C>T	NP_001340126.1:p.Asp687=
NM_001353198.1:c.2061C>T	NP_001340127.1:p.Asp687=
NM_001353199.1:c.1872C>T	NP_001340128.1:p.Asp624=
NM_001353200.1:c.1701C>T	NP_001340129.1:p.Asp567=
NR_148391.1:n.2207C>T
NR_148392.1:n.2425C>T
NR_148393.1:n.2346C>T
NR_148394.1:n.2100C>T
NR_148395.1:n.2498C>T
NR_148396.1:n.2132C>T
NR_148397.1:n.2257C>T
NR_148398.1:n.2212C>T
NR_148399.1:n.2738C>T
NR_148400.1:n.2337C>T
XM_005272162.3:c.1026C>T	XP_005272219.1:p.Asp342=
XM_006716932.2:c.1872C>T	XP_006716995.1:p.Asp624=
XM_011518140.2:c.2076C>T	XP_011516442.1:p.Asp692=
XM_011518141.2:c.2010C>T	XP_011516443.1:p.Asp670=
XM_011518142.2:c.1914C>T	XP_011516444.1:p.Asp638=
XM_011518143.2:c.1908C>T	XP_011516445.1:p.Asp636=
XM_011518145.2:c.1767C>T	XP_011516447.1:p.Asp589=
XM_017014205.2:c.1026C>T	XP_016869694.1:p.Asp342=
XM_024447380.1:c.1026C>T	XP_024303148.1:p.Asp342=
XM_024447381.1:c.1332C>T	XP_024303149.1:p.Asp444=
XM_024447382.1:c.1026C>T	XP_024303150.1:p.Asp342=
XR_001746160.2:n.2327C>T
XR_001746162.2:n.2532C>T
XR_001746164.1:n.2249C>T
XR_001746166.2:n.2544C>T
NM_001077365.2:c.2157C>T MANE Select	NP_001070833.1:p.Asp719=
NM_001077366.2:c.1995C>T	NP_001070834.1:p.Asp665=
NM_001136113.2:c.2157C>T	NP_001129585.1:p.Asp719=
NM_001136114.2:c.1806C>T	NP_001129586.1:p.Asp602=
NM_001353193.2:c.2223C>T	NP_001340122.2:p.Asp741=
NM_001353194.2:c.1995C>T	NP_001340123.1:p.Asp665=
NM_001353195.2:c.1806C>T	NP_001340124.1:p.Asp602=
NM_001353196.2:c.2067C>T	NP_001340125.1:p.Asp689=
NM_001353197.2:c.2061C>T	NP_001340126.2:p.Asp687=
NM_001353198.2:c.2061C>T	NP_001340127.2:p.Asp687=
NM_001353199.2:c.1872C>T	NP_001340128.2:p.Asp624=
NM_001353200.2:c.1701C>T	NP_001340129.1:p.Asp567=
NM_001374689.1:c.2145C>T	NP_001361618.1:p.Asp715=
NM_001374690.1:c.1938C>T	NP_001361619.1:p.Asp646=
NM_001374691.1:c.1806C>T	NP_001361620.1:p.Asp602=
NM_001374692.1:c.1806C>T	NP_001361621.1:p.Asp602=
NM_001374693.1:c.1806C>T	NP_001361622.1:p.Asp602=
NM_001374695.1:c.1767C>T	NP_001361624.1:p.Asp589=
NM_007171.4:c.2223C>T	NP_009102.4:p.Asp741=
NR_148391.2:n.2191C>T
NR_148392.2:n.2409C>T
NR_148393.2:n.2330C>T
NR_148394.2:n.2084C>T
NR_148395.2:n.2482C>T
NR_148396.2:n.2116C>T
NR_148397.2:n.2241C>T
NR_148398.2:n.2196C>T
NR_148399.2:n.2722C>T
NR_148400.2:n.2321C>T