Canonical Allele Identifier: CA375314926

Gene: POMT1

Linked Data

• ClinVar Variation Id: 1985022
• ClinVar RCV Id: RCV002775799
• gnomAD v4: 9-131522943-A-G
• MyVariant Identifiers: chr9:g.134398330A>G (hg19) ; chr9:g.131522943A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522943A>G , CM000671.2:g.131522943A>G	GRCh38
NC_000009.11:g.134398330A>G , CM000671.1:g.134398330A>G	GRCh37
NC_000009.10:g.133388151A>G	NCBI36
NG_008896.1:g.25042A>G
NG_008896.2:g.25042A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1853A>G	ENSP00000343034.7:p.Gln618Arg
ENST00000404875.7:n.2555A>G
ENST00000423007.6:c.2072A>G	ENSP00000404119.2:p.Gln691Arg
ENST00000677295.2:c.*2359A>G	ENSP00000504346.2:n.*2359A>G
ENST00000678264.2:c.*2198A>G	ENSP00000503157.2:n.*2198A>G
ENST00000682070.1:n.2325A>G
ENST00000682639.1:c.12A>G
ENST00000682813.1:n.2412A>G
ENST00000683231.1:c.12A>G
ENST00000683392.1:n.4607A>G
ENST00000683712.1:n.2420A>G
ENST00000683900.1:n.3915A>G
ENST00000684062.1:n.2681A>G
ENST00000684399.1:c.12A>G
ENST00000684579.1:n.3861A>G
ENST00000341012.12:c.1853A>G	ENSP00000343034.7:p.Gln618Arg
ENST00000372220.5:c.884A>G	ENSP00000361294.5:p.Gln295Arg
ENST00000372228.9:c.2081A>G	ENSP00000361302.3:p.Gln694Arg
ENST00000402686.8:c.2015A>G MANE Select	ENSP00000385797.4:p.Gln672Arg
ENST00000676640.1:c.2015A>G	ENSP00000503281.1:p.Gln672Arg
ENST00000676803.1:c.1076A>G	ENSP00000503093.1:p.Gln359Arg
ENST00000676835.1:c.*1230A>G	ENSP00000502911.1:n.*1230A>G
ENST00000677029.1:c.1559A>G	ENSP00000502936.1:p.Gln520Arg
ENST00000677099.1:c.*1725A>G	ENSP00000504553.1:n.*1725A>G
ENST00000677216.1:c.1664A>G	ENSP00000503772.1:p.Gln555Arg
ENST00000677221.1:n.1040A>G
ENST00000677295.1:c.*1237A>G	ENSP00000504346.1:n.*1237A>G
ENST00000677444.1:c.1960A>G
ENST00000677586.1:n.1382A>G
ENST00000677626.1:c.1664A>G	ENSP00000503552.1:p.Gln555Arg
ENST00000677853.1:c.*1023A>G	ENSP00000503488.1:n.*1023A>G
ENST00000678264.1:c.*1392A>G	ENSP00000503157.1:n.*1392A>G
ENST00000678303.1:c.1925A>G	ENSP00000503696.1:p.Gln642Arg
ENST00000678366.1:c.*2264A>G	ENSP00000504353.1:n.*2264A>G
ENST00000678546.1:c.*1960A>G	ENSP00000503062.1:n.*1960A>G
ENST00000678548.1:c.*2154A>G	ENSP00000503934.1:n.*2154A>G
ENST00000678626.1:n.1851A>G
ENST00000678739.1:c.*2181A>G	ENSP00000503806.1:n.*2181A>G
ENST00000678833.1:c.*1767A>G	ENSP00000503893.1:n.*1767A>G
ENST00000679023.1:c.1853A>G	ENSP00000503718.1:p.Gln618Arg
ENST00000679076.1:c.1634A>G
ENST00000679111.1:c.*771A>G	ENSP00000504257.1:n.*771A>G
ENST00000679189.1:c.1664A>G	ENSP00000503356.1:p.Gln555Arg
ENST00000341012.11:c.1853A>G	ENSP00000343034.7:p.Gln618Arg
ENST00000372220.4:c.878A>G	ENSP00000361294.4:p.Gln293Arg
ENST00000372228.7:c.2081A>G	ENSP00000361302.3:p.Gln694Arg
ENST00000402686.7:c.2015A>G	ENSP00000385797.3:p.Gln672Arg
ENST00000404875.6:c.1664A>G	ENSP00000384531.2:p.Gln555Arg
ENST00000423007.5:c.2015A>G	ENSP00000404119.1:p.Gln672Arg
ENST00000485278.5:n.2565A>G
NM_001077365.1:c.2015A>G	NP_001070833.1:p.Gln672Arg
NM_001077366.1:c.1853A>G	NP_001070834.1:p.Gln618Arg
NM_001136113.1:c.2015A>G	NP_001129585.1:p.Gln672Arg
NM_001136114.1:c.1664A>G	NP_001129586.1:p.Gln555Arg
NM_007171.3:c.2081A>G	NP_009102.3:p.Gln694Arg
XM_005272156.1:c.2081A>G	XP_005272213.1:p.Gln694Arg
XM_005272158.1:c.1919A>G	XP_005272215.1:p.Gln640Arg
XM_005272159.1:c.1730A>G	XP_005272216.1:p.Gln577Arg
XM_005272162.1:c.884A>G	XP_005272219.1:p.Gln295Arg
XM_006716932.1:c.1730A>G	XP_006716995.1:p.Gln577Arg
XM_011518140.1:c.1934A>G	XP_011516442.1:p.Gln645Arg
XM_011518141.1:c.1868A>G	XP_011516443.1:p.Gln623Arg
XM_011518142.1:c.1772A>G	XP_011516444.1:p.Gln591Arg
XM_011518143.1:c.1766A>G	XP_011516445.1:p.Gln589Arg
XM_011518145.1:c.1625A>G	XP_011516447.1:p.Gln542Arg
XM_011518147.1:c.953A>G	XP_011516449.1:p.Gln318Arg
XR_929703.1:n.2257A>G
NM_001353193.1:c.2081A>G	NP_001340122.1:p.Gln694Arg
NM_001353194.1:c.1853A>G	NP_001340123.1:p.Gln618Arg
NM_001353195.1:c.1664A>G	NP_001340124.1:p.Gln555Arg
NM_001353196.1:c.1925A>G	NP_001340125.1:p.Gln642Arg
NM_001353197.1:c.1919A>G	NP_001340126.1:p.Gln640Arg
NM_001353198.1:c.1919A>G	NP_001340127.1:p.Gln640Arg
NM_001353199.1:c.1730A>G	NP_001340128.1:p.Gln577Arg
NM_001353200.1:c.1559A>G	NP_001340129.1:p.Gln520Arg
NR_148391.1:n.2065A>G
NR_148392.1:n.2283A>G
NR_148393.1:n.2204A>G
NR_148394.1:n.1958A>G
NR_148395.1:n.2356A>G
NR_148396.1:n.1990A>G
NR_148397.1:n.2115A>G
NR_148398.1:n.2070A>G
NR_148399.1:n.2596A>G
NR_148400.1:n.2195A>G
XM_005272162.3:c.884A>G	XP_005272219.1:p.Gln295Arg
XM_006716932.2:c.1730A>G	XP_006716995.1:p.Gln577Arg
XM_011518140.2:c.1934A>G	XP_011516442.1:p.Gln645Arg
XM_011518141.2:c.1868A>G	XP_011516443.1:p.Gln623Arg
XM_011518142.2:c.1772A>G	XP_011516444.1:p.Gln591Arg
XM_011518143.2:c.1766A>G	XP_011516445.1:p.Gln589Arg
XM_011518145.2:c.1625A>G	XP_011516447.1:p.Gln542Arg
XM_017014205.2:c.884A>G	XP_016869694.1:p.Gln295Arg
XM_024447380.1:c.884A>G	XP_024303148.1:p.Gln295Arg
XM_024447381.1:c.1190A>G	XP_024303149.1:p.Gln397Arg
XM_024447382.1:c.884A>G	XP_024303150.1:p.Gln295Arg
XR_001746160.2:n.2185A>G
XR_001746162.2:n.2390A>G
XR_001746164.1:n.2107A>G
XR_001746166.2:n.2402A>G
NM_001077365.2:c.2015A>G MANE Select	NP_001070833.1:p.Gln672Arg
NM_001077366.2:c.1853A>G	NP_001070834.1:p.Gln618Arg
NM_001136113.2:c.2015A>G	NP_001129585.1:p.Gln672Arg
NM_001136114.2:c.1664A>G	NP_001129586.1:p.Gln555Arg
NM_001353193.2:c.2081A>G	NP_001340122.2:p.Gln694Arg
NM_001353194.2:c.1853A>G	NP_001340123.1:p.Gln618Arg
NM_001353195.2:c.1664A>G	NP_001340124.1:p.Gln555Arg
NM_001353196.2:c.1925A>G	NP_001340125.1:p.Gln642Arg
NM_001353197.2:c.1919A>G	NP_001340126.2:p.Gln640Arg
NM_001353198.2:c.1919A>G	NP_001340127.2:p.Gln640Arg
NM_001353199.2:c.1730A>G	NP_001340128.2:p.Gln577Arg
NM_001353200.2:c.1559A>G	NP_001340129.1:p.Gln520Arg
NM_001374689.1:c.2003A>G	NP_001361618.1:p.Gln668Arg
NM_001374690.1:c.1796A>G	NP_001361619.1:p.Gln599Arg
NM_001374691.1:c.1664A>G	NP_001361620.1:p.Gln555Arg
NM_001374692.1:c.1664A>G	NP_001361621.1:p.Gln555Arg
NM_001374693.1:c.1664A>G	NP_001361622.1:p.Gln555Arg
NM_001374695.1:c.1625A>G	NP_001361624.1:p.Gln542Arg
NM_007171.4:c.2081A>G	NP_009102.4:p.Gln694Arg
NR_148391.2:n.2049A>G
NR_148392.2:n.2267A>G
NR_148393.2:n.2188A>G
NR_148394.2:n.1942A>G
NR_148395.2:n.2340A>G
NR_148396.2:n.1974A>G
NR_148397.2:n.2099A>G
NR_148398.2:n.2054A>G
NR_148399.2:n.2580A>G
NR_148400.2:n.2179A>G