Canonical Allele Identifier: CA467424062

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134397525C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522138C>G , CM000671.2:g.131522138C>G	GRCh38
NC_000009.11:g.134397525C>G , CM000671.1:g.134397525C>G	GRCh37
NC_000009.10:g.133387346C>G	NCBI36
NG_008896.1:g.24237C>G
NG_008896.2:g.24237C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1755C>G	ENSP00000343034.7:p.Leu585=
ENST00000404875.7:n.2457C>G
ENST00000423007.6:c.1974C>G	ENSP00000404119.2:p.Leu658=
ENST00000677295.2:c.*2261C>G	ENSP00000504346.2:n.*2261C>G
ENST00000678264.2:c.*2100C>G	ENSP00000503157.2:n.*2100C>G
ENST00000682070.1:n.2291-64C>G
ENST00000682813.1:n.2321C>G
ENST00000683392.1:n.4573-64C>G
ENST00000683712.1:n.2322C>G
ENST00000683900.1:n.3817C>G
ENST00000684062.1:n.2583C>G
ENST00000684579.1:n.3763C>G
ENST00000684679.1:n.1144C>G
ENST00000341012.12:c.1755C>G	ENSP00000343034.7:p.Leu585=
ENST00000372220.5:c.786C>G	ENSP00000361294.5:p.Leu262=
ENST00000372228.9:c.1983C>G	ENSP00000361302.3:p.Leu661=
ENST00000402686.8:c.1917C>G MANE Select	ENSP00000385797.4:p.Leu639=
ENST00000676640.1:c.1917C>G	ENSP00000503281.1:p.Leu639=
ENST00000676803.1:c.978C>G	ENSP00000503093.1:p.Leu326=
ENST00000676835.1:c.*1132C>G	ENSP00000502911.1:n.*1132C>G
ENST00000677029.1:c.1461C>G	ENSP00000502936.1:p.Leu487=
ENST00000677099.1:c.*1627C>G	ENSP00000504553.1:n.*1627C>G
ENST00000677216.1:c.1566C>G	ENSP00000503772.1:p.Leu522=
ENST00000677221.1:n.942C>G
ENST00000677295.1:c.*1203-64C>G	ENSP00000504346.1:n.*1203-64C>G
ENST00000677444.1:c.1862C>G
ENST00000677586.1:n.1284C>G
ENST00000677626.1:c.1566C>G	ENSP00000503552.1:p.Leu522=
ENST00000677853.1:c.*925C>G	ENSP00000503488.1:n.*925C>G
ENST00000678202.1:n.1076C>G
ENST00000678264.1:c.*1294C>G	ENSP00000503157.1:n.*1294C>G
ENST00000678303.1:c.1827C>G	ENSP00000503696.1:p.Leu609=
ENST00000678366.1:c.*2166C>G	ENSP00000504353.1:n.*2166C>G
ENST00000678546.1:c.*1862C>G	ENSP00000503062.1:n.*1862C>G
ENST00000678548.1:c.*2056C>G	ENSP00000503934.1:n.*2056C>G
ENST00000678626.1:n.1753C>G
ENST00000678739.1:c.*2147-64C>G	ENSP00000503806.1:n.*2147-64C>G
ENST00000678833.1:c.*1669C>G	ENSP00000503893.1:n.*1669C>G
ENST00000679023.1:c.1755C>G	ENSP00000503718.1:p.Leu585=
ENST00000679076.1:c.1536C>G
ENST00000679111.1:c.*673C>G	ENSP00000504257.1:n.*673C>G
ENST00000679189.1:c.1566C>G	ENSP00000503356.1:p.Leu522=
ENST00000341012.11:c.1755C>G	ENSP00000343034.7:p.Leu585=
ENST00000372220.4:c.780C>G	ENSP00000361294.4:p.Leu260=
ENST00000372228.7:c.1983C>G	ENSP00000361302.3:p.Leu661=
ENST00000402686.7:c.1917C>G	ENSP00000385797.3:p.Leu639=
ENST00000404875.6:c.1566C>G	ENSP00000384531.2:p.Leu522=
ENST00000423007.5:c.1917C>G	ENSP00000404119.1:p.Leu639=
ENST00000485278.5:n.2467C>G
ENST00000494883.1:n.460C>G
NM_001077365.1:c.1917C>G	NP_001070833.1:p.Leu639=
NM_001077366.1:c.1755C>G	NP_001070834.1:p.Leu585=
NM_001136113.1:c.1917C>G	NP_001129585.1:p.Leu639=
NM_001136114.1:c.1566C>G	NP_001129586.1:p.Leu522=
NM_007171.3:c.1983C>G	NP_009102.3:p.Leu661=
XM_005272156.1:c.1983C>G	XP_005272213.1:p.Leu661=
XM_005272158.1:c.1821C>G	XP_005272215.1:p.Leu607=
XM_005272159.1:c.1632C>G	XP_005272216.1:p.Leu544=
XM_005272162.1:c.786C>G	XP_005272219.1:p.Leu262=
XM_006716932.1:c.1632C>G	XP_006716995.1:p.Leu544=
XM_011518140.1:c.1836C>G	XP_011516442.1:p.Leu612=
XM_011518141.1:c.1770C>G	XP_011516443.1:p.Leu590=
XM_011518142.1:c.1674C>G	XP_011516444.1:p.Leu558=
XM_011518143.1:c.1668C>G	XP_011516445.1:p.Leu556=
XM_011518145.1:c.1527C>G	XP_011516447.1:p.Leu509=
XM_011518147.1:c.855C>G	XP_011516449.1:p.Leu285=
XR_929703.1:n.2159C>G
NM_001353193.1:c.1983C>G	NP_001340122.1:p.Leu661=
NM_001353194.1:c.1755C>G	NP_001340123.1:p.Leu585=
NM_001353195.1:c.1566C>G	NP_001340124.1:p.Leu522=
NM_001353196.1:c.1827C>G	NP_001340125.1:p.Leu609=
NM_001353197.1:c.1821C>G	NP_001340126.1:p.Leu607=
NM_001353198.1:c.1821C>G	NP_001340127.1:p.Leu607=
NM_001353199.1:c.1632C>G	NP_001340128.1:p.Leu544=
NM_001353200.1:c.1461C>G	NP_001340129.1:p.Leu487=
NR_148391.1:n.1967C>G
NR_148392.1:n.2185C>G
NR_148393.1:n.2106C>G
NR_148394.1:n.1860C>G
NR_148395.1:n.2258C>G
NR_148396.1:n.1892C>G
NR_148397.1:n.2017C>G
NR_148398.1:n.1972C>G
NR_148399.1:n.2498C>G
NR_148400.1:n.2097C>G
XM_005272162.3:c.786C>G	XP_005272219.1:p.Leu262=
XM_006716932.2:c.1632C>G	XP_006716995.1:p.Leu544=
XM_011518140.2:c.1836C>G	XP_011516442.1:p.Leu612=
XM_011518141.2:c.1770C>G	XP_011516443.1:p.Leu590=
XM_011518142.2:c.1674C>G	XP_011516444.1:p.Leu558=
XM_011518143.2:c.1668C>G	XP_011516445.1:p.Leu556=
XM_011518145.2:c.1527C>G	XP_011516447.1:p.Leu509=
XM_017014205.2:c.786C>G	XP_016869694.1:p.Leu262=
XM_024447380.1:c.786C>G	XP_024303148.1:p.Leu262=
XM_024447381.1:c.1092C>G	XP_024303149.1:p.Leu364=
XM_024447382.1:c.786C>G	XP_024303150.1:p.Leu262=
XR_001746160.2:n.2087C>G
XR_001746162.2:n.2292C>G
XR_001746164.1:n.2009C>G
XR_001746166.2:n.2304C>G
NM_001077365.2:c.1917C>G MANE Select	NP_001070833.1:p.Leu639=
NM_001077366.2:c.1755C>G	NP_001070834.1:p.Leu585=
NM_001136113.2:c.1917C>G	NP_001129585.1:p.Leu639=
NM_001136114.2:c.1566C>G	NP_001129586.1:p.Leu522=
NM_001353193.2:c.1983C>G	NP_001340122.2:p.Leu661=
NM_001353194.2:c.1755C>G	NP_001340123.1:p.Leu585=
NM_001353195.2:c.1566C>G	NP_001340124.1:p.Leu522=
NM_001353196.2:c.1827C>G	NP_001340125.1:p.Leu609=
NM_001353197.2:c.1821C>G	NP_001340126.2:p.Leu607=
NM_001353198.2:c.1821C>G	NP_001340127.2:p.Leu607=
NM_001353199.2:c.1632C>G	NP_001340128.2:p.Leu544=
NM_001353200.2:c.1461C>G	NP_001340129.1:p.Leu487=
NM_001374689.1:c.1905C>G	NP_001361618.1:p.Leu635=
NM_001374690.1:c.1698C>G	NP_001361619.1:p.Leu566=
NM_001374691.1:c.1566C>G	NP_001361620.1:p.Leu522=
NM_001374692.1:c.1566C>G	NP_001361621.1:p.Leu522=
NM_001374693.1:c.1566C>G	NP_001361622.1:p.Leu522=
NM_001374695.1:c.1527C>G	NP_001361624.1:p.Leu509=
NM_007171.4:c.1983C>G	NP_009102.4:p.Leu661=
NR_148391.2:n.1951C>G
NR_148392.2:n.2169C>G
NR_148393.2:n.2090C>G
NR_148394.2:n.1844C>G
NR_148395.2:n.2242C>G
NR_148396.2:n.1876C>G
NR_148397.2:n.2001C>G
NR_148398.2:n.1956C>G
NR_148399.2:n.2482C>G
NR_148400.2:n.2081C>G