Canonical Allele Identifier: CA467424152

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134398349C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522962C>G , CM000671.2:g.131522962C>G	GRCh38
NC_000009.11:g.134398349C>G , CM000671.1:g.134398349C>G	GRCh37
NC_000009.10:g.133388170C>G	NCBI36
NG_008896.1:g.25061C>G
NG_008896.2:g.25061C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1872C>G	ENSP00000343034.7:p.Ala624=
ENST00000404875.7:n.2574C>G
ENST00000423007.6:c.2091C>G	ENSP00000404119.2:p.Ala697=
ENST00000677295.2:c.*2378C>G	ENSP00000504346.2:n.*2378C>G
ENST00000678264.2:c.*2217C>G	ENSP00000503157.2:n.*2217C>G
ENST00000682070.1:n.2344C>G
ENST00000682639.1:c.31C>G
ENST00000682813.1:n.2431C>G
ENST00000683231.1:c.31C>G
ENST00000683392.1:n.4626C>G
ENST00000683712.1:n.2439C>G
ENST00000683900.1:n.3934C>G
ENST00000684062.1:n.2700C>G
ENST00000684399.1:c.31C>G
ENST00000684579.1:n.3880C>G
ENST00000341012.12:c.1872C>G	ENSP00000343034.7:p.Ala624=
ENST00000372220.5:c.903C>G	ENSP00000361294.5:p.Ala301=
ENST00000372228.9:c.2100C>G	ENSP00000361302.3:p.Ala700=
ENST00000402686.8:c.2034C>G MANE Select	ENSP00000385797.4:p.Ala678=
ENST00000676640.1:c.2034C>G	ENSP00000503281.1:p.Ala678=
ENST00000676803.1:c.1095C>G	ENSP00000503093.1:p.Ala365=
ENST00000676835.1:c.*1249C>G	ENSP00000502911.1:n.*1249C>G
ENST00000677029.1:c.1578C>G	ENSP00000502936.1:p.Ala526=
ENST00000677099.1:c.*1744C>G	ENSP00000504553.1:n.*1744C>G
ENST00000677216.1:c.1683C>G	ENSP00000503772.1:p.Ala561=
ENST00000677221.1:n.1059C>G
ENST00000677295.1:c.*1256C>G	ENSP00000504346.1:n.*1256C>G
ENST00000677444.1:c.1979C>G
ENST00000677586.1:n.1401C>G
ENST00000677626.1:c.1683C>G	ENSP00000503552.1:p.Ala561=
ENST00000677853.1:c.*1042C>G	ENSP00000503488.1:n.*1042C>G
ENST00000678264.1:c.*1411C>G	ENSP00000503157.1:n.*1411C>G
ENST00000678303.1:c.1944C>G	ENSP00000503696.1:p.Ala648=
ENST00000678366.1:c.*2283C>G	ENSP00000504353.1:n.*2283C>G
ENST00000678546.1:c.*1979C>G	ENSP00000503062.1:n.*1979C>G
ENST00000678548.1:c.*2173C>G	ENSP00000503934.1:n.*2173C>G
ENST00000678626.1:n.1870C>G
ENST00000678739.1:c.*2200C>G	ENSP00000503806.1:n.*2200C>G
ENST00000678833.1:c.*1786C>G	ENSP00000503893.1:n.*1786C>G
ENST00000679023.1:c.1872C>G	ENSP00000503718.1:p.Ala624=
ENST00000679076.1:c.1653C>G
ENST00000679111.1:c.*790C>G	ENSP00000504257.1:n.*790C>G
ENST00000679189.1:c.1683C>G	ENSP00000503356.1:p.Ala561=
ENST00000341012.11:c.1872C>G	ENSP00000343034.7:p.Ala624=
ENST00000372220.4:c.897C>G	ENSP00000361294.4:p.Ala299=
ENST00000372228.7:c.2100C>G	ENSP00000361302.3:p.Ala700=
ENST00000402686.7:c.2034C>G	ENSP00000385797.3:p.Ala678=
ENST00000404875.6:c.1683C>G	ENSP00000384531.2:p.Ala561=
ENST00000423007.5:c.2034C>G	ENSP00000404119.1:p.Ala678=
ENST00000485278.5:n.2584C>G
NM_001077365.1:c.2034C>G	NP_001070833.1:p.Ala678=
NM_001077366.1:c.1872C>G	NP_001070834.1:p.Ala624=
NM_001136113.1:c.2034C>G	NP_001129585.1:p.Ala678=
NM_001136114.1:c.1683C>G	NP_001129586.1:p.Ala561=
NM_007171.3:c.2100C>G	NP_009102.3:p.Ala700=
XM_005272156.1:c.2100C>G	XP_005272213.1:p.Ala700=
XM_005272158.1:c.1938C>G	XP_005272215.1:p.Ala646=
XM_005272159.1:c.1749C>G	XP_005272216.1:p.Ala583=
XM_005272162.1:c.903C>G	XP_005272219.1:p.Ala301=
XM_006716932.1:c.1749C>G	XP_006716995.1:p.Ala583=
XM_011518140.1:c.1953C>G	XP_011516442.1:p.Ala651=
XM_011518141.1:c.1887C>G	XP_011516443.1:p.Ala629=
XM_011518142.1:c.1791C>G	XP_011516444.1:p.Ala597=
XM_011518143.1:c.1785C>G	XP_011516445.1:p.Ala595=
XM_011518145.1:c.1644C>G	XP_011516447.1:p.Ala548=
XM_011518147.1:c.972C>G	XP_011516449.1:p.Ala324=
XR_929703.1:n.2276C>G
NM_001353193.1:c.2100C>G	NP_001340122.1:p.Ala700=
NM_001353194.1:c.1872C>G	NP_001340123.1:p.Ala624=
NM_001353195.1:c.1683C>G	NP_001340124.1:p.Ala561=
NM_001353196.1:c.1944C>G	NP_001340125.1:p.Ala648=
NM_001353197.1:c.1938C>G	NP_001340126.1:p.Ala646=
NM_001353198.1:c.1938C>G	NP_001340127.1:p.Ala646=
NM_001353199.1:c.1749C>G	NP_001340128.1:p.Ala583=
NM_001353200.1:c.1578C>G	NP_001340129.1:p.Ala526=
NR_148391.1:n.2084C>G
NR_148392.1:n.2302C>G
NR_148393.1:n.2223C>G
NR_148394.1:n.1977C>G
NR_148395.1:n.2375C>G
NR_148396.1:n.2009C>G
NR_148397.1:n.2134C>G
NR_148398.1:n.2089C>G
NR_148399.1:n.2615C>G
NR_148400.1:n.2214C>G
XM_005272162.3:c.903C>G	XP_005272219.1:p.Ala301=
XM_006716932.2:c.1749C>G	XP_006716995.1:p.Ala583=
XM_011518140.2:c.1953C>G	XP_011516442.1:p.Ala651=
XM_011518141.2:c.1887C>G	XP_011516443.1:p.Ala629=
XM_011518142.2:c.1791C>G	XP_011516444.1:p.Ala597=
XM_011518143.2:c.1785C>G	XP_011516445.1:p.Ala595=
XM_011518145.2:c.1644C>G	XP_011516447.1:p.Ala548=
XM_017014205.2:c.903C>G	XP_016869694.1:p.Ala301=
XM_024447380.1:c.903C>G	XP_024303148.1:p.Ala301=
XM_024447381.1:c.1209C>G	XP_024303149.1:p.Ala403=
XM_024447382.1:c.903C>G	XP_024303150.1:p.Ala301=
XR_001746160.2:n.2204C>G
XR_001746162.2:n.2409C>G
XR_001746164.1:n.2126C>G
XR_001746166.2:n.2421C>G
NM_001077365.2:c.2034C>G MANE Select	NP_001070833.1:p.Ala678=
NM_001077366.2:c.1872C>G	NP_001070834.1:p.Ala624=
NM_001136113.2:c.2034C>G	NP_001129585.1:p.Ala678=
NM_001136114.2:c.1683C>G	NP_001129586.1:p.Ala561=
NM_001353193.2:c.2100C>G	NP_001340122.2:p.Ala700=
NM_001353194.2:c.1872C>G	NP_001340123.1:p.Ala624=
NM_001353195.2:c.1683C>G	NP_001340124.1:p.Ala561=
NM_001353196.2:c.1944C>G	NP_001340125.1:p.Ala648=
NM_001353197.2:c.1938C>G	NP_001340126.2:p.Ala646=
NM_001353198.2:c.1938C>G	NP_001340127.2:p.Ala646=
NM_001353199.2:c.1749C>G	NP_001340128.2:p.Ala583=
NM_001353200.2:c.1578C>G	NP_001340129.1:p.Ala526=
NM_001374689.1:c.2022C>G	NP_001361618.1:p.Ala674=
NM_001374690.1:c.1815C>G	NP_001361619.1:p.Ala605=
NM_001374691.1:c.1683C>G	NP_001361620.1:p.Ala561=
NM_001374692.1:c.1683C>G	NP_001361621.1:p.Ala561=
NM_001374693.1:c.1683C>G	NP_001361622.1:p.Ala561=
NM_001374695.1:c.1644C>G	NP_001361624.1:p.Ala548=
NM_007171.4:c.2100C>G	NP_009102.4:p.Ala700=
NR_148391.2:n.2068C>G
NR_148392.2:n.2286C>G
NR_148393.2:n.2207C>G
NR_148394.2:n.1961C>G
NR_148395.2:n.2359C>G
NR_148396.2:n.1993C>G
NR_148397.2:n.2118C>G
NR_148398.2:n.2073C>G
NR_148399.2:n.2599C>G
NR_148400.2:n.2198C>G