Canonical Allele Identifier: CA467424019

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134397459T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522072T>G , CM000671.2:g.131522072T>G	GRCh38
NC_000009.11:g.134397459T>G , CM000671.1:g.134397459T>G	GRCh37
NC_000009.10:g.133387280T>G	NCBI36
NG_008896.1:g.24171T>G
NG_008896.2:g.24171T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.1689T>G	ENSP00000343034.7:p.Ala563=
ENST00000404875.7:n.2391T>G
ENST00000423007.6:c.1908T>G	ENSP00000404119.2:p.Ala636=
ENST00000677295.2:c.*2195T>G	ENSP00000504346.2:n.*2195T>G
ENST00000678264.2:c.*2034T>G	ENSP00000503157.2:n.*2034T>G
ENST00000682070.1:n.2291-130T>G
ENST00000682813.1:n.2255T>G
ENST00000683392.1:n.4573-130T>G
ENST00000683712.1:n.2256T>G
ENST00000683900.1:n.3751T>G
ENST00000684062.1:n.2517T>G
ENST00000684579.1:n.3697T>G
ENST00000684679.1:n.1078T>G
ENST00000341012.12:c.1689T>G	ENSP00000343034.7:p.Ala563=
ENST00000372220.5:c.720T>G	ENSP00000361294.5:p.Ala240=
ENST00000372228.9:c.1917T>G	ENSP00000361302.3:p.Ala639=
ENST00000402686.8:c.1851T>G MANE Select	ENSP00000385797.4:p.Ala617=
ENST00000676640.1:c.1851T>G	ENSP00000503281.1:p.Ala617=
ENST00000676803.1:c.912T>G	ENSP00000503093.1:p.Ala304=
ENST00000676835.1:c.*1066T>G	ENSP00000502911.1:n.*1066T>G
ENST00000677029.1:c.1395T>G	ENSP00000502936.1:p.Ala465=
ENST00000677099.1:c.*1561T>G	ENSP00000504553.1:n.*1561T>G
ENST00000677216.1:c.1500T>G	ENSP00000503772.1:p.Ala500=
ENST00000677221.1:n.876T>G
ENST00000677295.1:c.*1203-130T>G	ENSP00000504346.1:n.*1203-130T>G
ENST00000677444.1:c.1796T>G
ENST00000677586.1:n.1218T>G
ENST00000677626.1:c.1500T>G	ENSP00000503552.1:p.Ala500=
ENST00000677853.1:c.*859T>G	ENSP00000503488.1:n.*859T>G
ENST00000678202.1:n.1010T>G
ENST00000678264.1:c.*1228T>G	ENSP00000503157.1:n.*1228T>G
ENST00000678303.1:c.1761T>G	ENSP00000503696.1:p.Ala587=
ENST00000678366.1:c.*2100T>G	ENSP00000504353.1:n.*2100T>G
ENST00000678546.1:c.*1796T>G	ENSP00000503062.1:n.*1796T>G
ENST00000678548.1:c.*1990T>G	ENSP00000503934.1:n.*1990T>G
ENST00000678626.1:n.1687T>G
ENST00000678739.1:c.*2147-130T>G	ENSP00000503806.1:n.*2147-130T>G
ENST00000678833.1:c.*1603T>G	ENSP00000503893.1:n.*1603T>G
ENST00000679023.1:c.1689T>G	ENSP00000503718.1:p.Ala563=
ENST00000679076.1:c.1470T>G
ENST00000679111.1:c.*607T>G	ENSP00000504257.1:n.*607T>G
ENST00000679189.1:c.1500T>G	ENSP00000503356.1:p.Ala500=
ENST00000341012.11:c.1689T>G	ENSP00000343034.7:p.Ala563=
ENST00000372220.4:c.714T>G	ENSP00000361294.4:p.Ala238=
ENST00000372228.7:c.1917T>G	ENSP00000361302.3:p.Ala639=
ENST00000402686.7:c.1851T>G	ENSP00000385797.3:p.Ala617=
ENST00000404875.6:c.1500T>G	ENSP00000384531.2:p.Ala500=
ENST00000423007.5:c.1851T>G	ENSP00000404119.1:p.Ala617=
ENST00000485278.5:n.2401T>G
ENST00000494883.1:n.394T>G
NM_001077365.1:c.1851T>G	NP_001070833.1:p.Ala617=
NM_001077366.1:c.1689T>G	NP_001070834.1:p.Ala563=
NM_001136113.1:c.1851T>G	NP_001129585.1:p.Ala617=
NM_001136114.1:c.1500T>G	NP_001129586.1:p.Ala500=
NM_007171.3:c.1917T>G	NP_009102.3:p.Ala639=
XM_005272156.1:c.1917T>G	XP_005272213.1:p.Ala639=
XM_005272158.1:c.1755T>G	XP_005272215.1:p.Ala585=
XM_005272159.1:c.1566T>G	XP_005272216.1:p.Ala522=
XM_005272162.1:c.720T>G	XP_005272219.1:p.Ala240=
XM_006716932.1:c.1566T>G	XP_006716995.1:p.Ala522=
XM_011518140.1:c.1770T>G	XP_011516442.1:p.Ala590=
XM_011518141.1:c.1704T>G	XP_011516443.1:p.Ala568=
XM_011518142.1:c.1608T>G	XP_011516444.1:p.Ala536=
XM_011518143.1:c.1602T>G	XP_011516445.1:p.Ala534=
XM_011518145.1:c.1461T>G	XP_011516447.1:p.Ala487=
XM_011518147.1:c.789T>G	XP_011516449.1:p.Ala263=
XR_929703.1:n.2093T>G
NM_001353193.1:c.1917T>G	NP_001340122.1:p.Ala639=
NM_001353194.1:c.1689T>G	NP_001340123.1:p.Ala563=
NM_001353195.1:c.1500T>G	NP_001340124.1:p.Ala500=
NM_001353196.1:c.1761T>G	NP_001340125.1:p.Ala587=
NM_001353197.1:c.1755T>G	NP_001340126.1:p.Ala585=
NM_001353198.1:c.1755T>G	NP_001340127.1:p.Ala585=
NM_001353199.1:c.1566T>G	NP_001340128.1:p.Ala522=
NM_001353200.1:c.1395T>G	NP_001340129.1:p.Ala465=
NR_148391.1:n.1901T>G
NR_148392.1:n.2119T>G
NR_148393.1:n.2040T>G
NR_148394.1:n.1794T>G
NR_148395.1:n.2192T>G
NR_148396.1:n.1826T>G
NR_148397.1:n.1951T>G
NR_148398.1:n.1906T>G
NR_148399.1:n.2432T>G
NR_148400.1:n.2031T>G
XM_005272162.3:c.720T>G	XP_005272219.1:p.Ala240=
XM_006716932.2:c.1566T>G	XP_006716995.1:p.Ala522=
XM_011518140.2:c.1770T>G	XP_011516442.1:p.Ala590=
XM_011518141.2:c.1704T>G	XP_011516443.1:p.Ala568=
XM_011518142.2:c.1608T>G	XP_011516444.1:p.Ala536=
XM_011518143.2:c.1602T>G	XP_011516445.1:p.Ala534=
XM_011518145.2:c.1461T>G	XP_011516447.1:p.Ala487=
XM_017014205.2:c.720T>G	XP_016869694.1:p.Ala240=
XM_024447380.1:c.720T>G	XP_024303148.1:p.Ala240=
XM_024447381.1:c.1026T>G	XP_024303149.1:p.Ala342=
XM_024447382.1:c.720T>G	XP_024303150.1:p.Ala240=
XR_001746160.2:n.2021T>G
XR_001746162.2:n.2226T>G
XR_001746164.1:n.1943T>G
XR_001746166.2:n.2238T>G
NM_001077365.2:c.1851T>G MANE Select	NP_001070833.1:p.Ala617=
NM_001077366.2:c.1689T>G	NP_001070834.1:p.Ala563=
NM_001136113.2:c.1851T>G	NP_001129585.1:p.Ala617=
NM_001136114.2:c.1500T>G	NP_001129586.1:p.Ala500=
NM_001353193.2:c.1917T>G	NP_001340122.2:p.Ala639=
NM_001353194.2:c.1689T>G	NP_001340123.1:p.Ala563=
NM_001353195.2:c.1500T>G	NP_001340124.1:p.Ala500=
NM_001353196.2:c.1761T>G	NP_001340125.1:p.Ala587=
NM_001353197.2:c.1755T>G	NP_001340126.2:p.Ala585=
NM_001353198.2:c.1755T>G	NP_001340127.2:p.Ala585=
NM_001353199.2:c.1566T>G	NP_001340128.2:p.Ala522=
NM_001353200.2:c.1395T>G	NP_001340129.1:p.Ala465=
NM_001374689.1:c.1839T>G	NP_001361618.1:p.Ala613=
NM_001374690.1:c.1632T>G	NP_001361619.1:p.Ala544=
NM_001374691.1:c.1500T>G	NP_001361620.1:p.Ala500=
NM_001374692.1:c.1500T>G	NP_001361621.1:p.Ala500=
NM_001374693.1:c.1500T>G	NP_001361622.1:p.Ala500=
NM_001374695.1:c.1461T>G	NP_001361624.1:p.Ala487=
NM_007171.4:c.1917T>G	NP_009102.4:p.Ala639=
NR_148391.2:n.1885T>G
NR_148392.2:n.2103T>G
NR_148393.2:n.2024T>G
NR_148394.2:n.1778T>G
NR_148395.2:n.2176T>G
NR_148396.2:n.1810T>G
NR_148397.2:n.1935T>G
NR_148398.2:n.1890T>G
NR_148399.2:n.2416T>G
NR_148400.2:n.2015T>G