Canonical Allele Identifier: CA467424154

Gene: POMT1

Linked Data

• gnomAD v4: 9-131522963-C-T
• MyVariant Identifiers: chr9:g.134398350C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522963C>T , CM000671.2:g.131522963C>T	GRCh38
NC_000009.11:g.134398350C>T , CM000671.1:g.134398350C>T	GRCh37
NC_000009.10:g.133388171C>T	NCBI36
NG_008896.1:g.25062C>T
NG_008896.2:g.25062C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1873C>T	ENSP00000343034.7:p.Leu625=
ENST00000404875.7:n.2575C>T
ENST00000423007.6:c.2092C>T	ENSP00000404119.2:p.Leu698=
ENST00000677295.2:c.*2379C>T	ENSP00000504346.2:n.*2379C>T
ENST00000678264.2:c.*2218C>T	ENSP00000503157.2:n.*2218C>T
ENST00000682070.1:n.2345C>T
ENST00000682639.1:c.32C>T
ENST00000682813.1:n.2432C>T
ENST00000683231.1:c.32C>T
ENST00000683392.1:n.4627C>T
ENST00000683712.1:n.2440C>T
ENST00000683900.1:n.3935C>T
ENST00000684062.1:n.2701C>T
ENST00000684399.1:c.32C>T
ENST00000684579.1:n.3881C>T
ENST00000341012.12:c.1873C>T	ENSP00000343034.7:p.Leu625=
ENST00000372220.5:c.904C>T	ENSP00000361294.5:p.Leu302=
ENST00000372228.9:c.2101C>T	ENSP00000361302.3:p.Leu701=
ENST00000402686.8:c.2035C>T MANE Select	ENSP00000385797.4:p.Leu679=
ENST00000676640.1:c.2035C>T	ENSP00000503281.1:p.Leu679=
ENST00000676803.1:c.1096C>T	ENSP00000503093.1:p.Leu366=
ENST00000676835.1:c.*1250C>T	ENSP00000502911.1:n.*1250C>T
ENST00000677029.1:c.1579C>T	ENSP00000502936.1:p.Leu527=
ENST00000677099.1:c.*1745C>T	ENSP00000504553.1:n.*1745C>T
ENST00000677216.1:c.1684C>T	ENSP00000503772.1:p.Leu562=
ENST00000677221.1:n.1060C>T
ENST00000677295.1:c.*1257C>T	ENSP00000504346.1:n.*1257C>T
ENST00000677444.1:c.1980C>T
ENST00000677586.1:n.1402C>T
ENST00000677626.1:c.1684C>T	ENSP00000503552.1:p.Leu562=
ENST00000677853.1:c.*1043C>T	ENSP00000503488.1:n.*1043C>T
ENST00000678264.1:c.*1412C>T	ENSP00000503157.1:n.*1412C>T
ENST00000678303.1:c.1945C>T	ENSP00000503696.1:p.Leu649=
ENST00000678366.1:c.*2284C>T	ENSP00000504353.1:n.*2284C>T
ENST00000678546.1:c.*1980C>T	ENSP00000503062.1:n.*1980C>T
ENST00000678548.1:c.*2174C>T	ENSP00000503934.1:n.*2174C>T
ENST00000678626.1:n.1871C>T
ENST00000678739.1:c.*2201C>T	ENSP00000503806.1:n.*2201C>T
ENST00000678833.1:c.*1787C>T	ENSP00000503893.1:n.*1787C>T
ENST00000679023.1:c.1873C>T	ENSP00000503718.1:p.Leu625=
ENST00000679076.1:c.1654C>T
ENST00000679111.1:c.*791C>T	ENSP00000504257.1:n.*791C>T
ENST00000679189.1:c.1684C>T	ENSP00000503356.1:p.Leu562=
ENST00000341012.11:c.1873C>T	ENSP00000343034.7:p.Leu625=
ENST00000372220.4:c.898C>T	ENSP00000361294.4:p.Leu300=
ENST00000372228.7:c.2101C>T	ENSP00000361302.3:p.Leu701=
ENST00000402686.7:c.2035C>T	ENSP00000385797.3:p.Leu679=
ENST00000404875.6:c.1684C>T	ENSP00000384531.2:p.Leu562=
ENST00000423007.5:c.2035C>T	ENSP00000404119.1:p.Leu679=
ENST00000485278.5:n.2585C>T
NM_001077365.1:c.2035C>T	NP_001070833.1:p.Leu679=
NM_001077366.1:c.1873C>T	NP_001070834.1:p.Leu625=
NM_001136113.1:c.2035C>T	NP_001129585.1:p.Leu679=
NM_001136114.1:c.1684C>T	NP_001129586.1:p.Leu562=
NM_007171.3:c.2101C>T	NP_009102.3:p.Leu701=
XM_005272156.1:c.2101C>T	XP_005272213.1:p.Leu701=
XM_005272158.1:c.1939C>T	XP_005272215.1:p.Leu647=
XM_005272159.1:c.1750C>T	XP_005272216.1:p.Leu584=
XM_005272162.1:c.904C>T	XP_005272219.1:p.Leu302=
XM_006716932.1:c.1750C>T	XP_006716995.1:p.Leu584=
XM_011518140.1:c.1954C>T	XP_011516442.1:p.Leu652=
XM_011518141.1:c.1888C>T	XP_011516443.1:p.Leu630=
XM_011518142.1:c.1792C>T	XP_011516444.1:p.Leu598=
XM_011518143.1:c.1786C>T	XP_011516445.1:p.Leu596=
XM_011518145.1:c.1645C>T	XP_011516447.1:p.Leu549=
XM_011518147.1:c.973C>T	XP_011516449.1:p.Leu325=
XR_929703.1:n.2277C>T
NM_001353193.1:c.2101C>T	NP_001340122.1:p.Leu701=
NM_001353194.1:c.1873C>T	NP_001340123.1:p.Leu625=
NM_001353195.1:c.1684C>T	NP_001340124.1:p.Leu562=
NM_001353196.1:c.1945C>T	NP_001340125.1:p.Leu649=
NM_001353197.1:c.1939C>T	NP_001340126.1:p.Leu647=
NM_001353198.1:c.1939C>T	NP_001340127.1:p.Leu647=
NM_001353199.1:c.1750C>T	NP_001340128.1:p.Leu584=
NM_001353200.1:c.1579C>T	NP_001340129.1:p.Leu527=
NR_148391.1:n.2085C>T
NR_148392.1:n.2303C>T
NR_148393.1:n.2224C>T
NR_148394.1:n.1978C>T
NR_148395.1:n.2376C>T
NR_148396.1:n.2010C>T
NR_148397.1:n.2135C>T
NR_148398.1:n.2090C>T
NR_148399.1:n.2616C>T
NR_148400.1:n.2215C>T
XM_005272162.3:c.904C>T	XP_005272219.1:p.Leu302=
XM_006716932.2:c.1750C>T	XP_006716995.1:p.Leu584=
XM_011518140.2:c.1954C>T	XP_011516442.1:p.Leu652=
XM_011518141.2:c.1888C>T	XP_011516443.1:p.Leu630=
XM_011518142.2:c.1792C>T	XP_011516444.1:p.Leu598=
XM_011518143.2:c.1786C>T	XP_011516445.1:p.Leu596=
XM_011518145.2:c.1645C>T	XP_011516447.1:p.Leu549=
XM_017014205.2:c.904C>T	XP_016869694.1:p.Leu302=
XM_024447380.1:c.904C>T	XP_024303148.1:p.Leu302=
XM_024447381.1:c.1210C>T	XP_024303149.1:p.Leu404=
XM_024447382.1:c.904C>T	XP_024303150.1:p.Leu302=
XR_001746160.2:n.2205C>T
XR_001746162.2:n.2410C>T
XR_001746164.1:n.2127C>T
XR_001746166.2:n.2422C>T
NM_001077365.2:c.2035C>T MANE Select	NP_001070833.1:p.Leu679=
NM_001077366.2:c.1873C>T	NP_001070834.1:p.Leu625=
NM_001136113.2:c.2035C>T	NP_001129585.1:p.Leu679=
NM_001136114.2:c.1684C>T	NP_001129586.1:p.Leu562=
NM_001353193.2:c.2101C>T	NP_001340122.2:p.Leu701=
NM_001353194.2:c.1873C>T	NP_001340123.1:p.Leu625=
NM_001353195.2:c.1684C>T	NP_001340124.1:p.Leu562=
NM_001353196.2:c.1945C>T	NP_001340125.1:p.Leu649=
NM_001353197.2:c.1939C>T	NP_001340126.2:p.Leu647=
NM_001353198.2:c.1939C>T	NP_001340127.2:p.Leu647=
NM_001353199.2:c.1750C>T	NP_001340128.2:p.Leu584=
NM_001353200.2:c.1579C>T	NP_001340129.1:p.Leu527=
NM_001374689.1:c.2023C>T	NP_001361618.1:p.Leu675=
NM_001374690.1:c.1816C>T	NP_001361619.1:p.Leu606=
NM_001374691.1:c.1684C>T	NP_001361620.1:p.Leu562=
NM_001374692.1:c.1684C>T	NP_001361621.1:p.Leu562=
NM_001374693.1:c.1684C>T	NP_001361622.1:p.Leu562=
NM_001374695.1:c.1645C>T	NP_001361624.1:p.Leu549=
NM_007171.4:c.2101C>T	NP_009102.4:p.Leu701=
NR_148391.2:n.2069C>T
NR_148392.2:n.2287C>T
NR_148393.2:n.2208C>T
NR_148394.2:n.1962C>T
NR_148395.2:n.2360C>T
NR_148396.2:n.1994C>T
NR_148397.2:n.2119C>T
NR_148398.2:n.2074C>T
NR_148399.2:n.2600C>T
NR_148400.2:n.2199C>T