Canonical Allele Identifier: CA5293919

Gene: POMT1

Linked Data

• ClinVar Variation Id: 1535431
• ClinVar RCV Id: RCV002077769
• dbSNP Id: rs779577551
• ExAC: 9:134398331 G / A
• gnomAD v3: 9-131522944-G-A
• gnomAD v4: 9-131522944-G-A
• MyVariant Identifiers: chr9:g.134398331G>A (hg19) ; chr9:g.131522944G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522944G>A , CM000671.2:g.131522944G>A	GRCh38
NC_000009.11:g.134398331G>A , CM000671.1:g.134398331G>A	GRCh37
NC_000009.10:g.133388152G>A	NCBI36
NG_008896.1:g.25043G>A
NG_008896.2:g.25043G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1854G>A	ENSP00000343034.7:p.Gln618=
ENST00000404875.7:n.2556G>A
ENST00000423007.6:c.2073G>A	ENSP00000404119.2:p.Gln691=
ENST00000677295.2:c.*2360G>A	ENSP00000504346.2:n.*2360G>A
ENST00000678264.2:c.*2199G>A	ENSP00000503157.2:n.*2199G>A
ENST00000682070.1:n.2326G>A
ENST00000682639.1:c.13G>A
ENST00000682813.1:n.2413G>A
ENST00000683231.1:c.13G>A
ENST00000683392.1:n.4608G>A
ENST00000683712.1:n.2421G>A
ENST00000683900.1:n.3916G>A
ENST00000684062.1:n.2682G>A
ENST00000684399.1:c.13G>A
ENST00000684579.1:n.3862G>A
ENST00000341012.12:c.1854G>A	ENSP00000343034.7:p.Gln618=
ENST00000372220.5:c.885G>A	ENSP00000361294.5:p.Gln295=
ENST00000372228.9:c.2082G>A	ENSP00000361302.3:p.Gln694=
ENST00000402686.8:c.2016G>A MANE Select	ENSP00000385797.4:p.Gln672=
ENST00000676640.1:c.2016G>A	ENSP00000503281.1:p.Gln672=
ENST00000676803.1:c.1077G>A	ENSP00000503093.1:p.Gln359=
ENST00000676835.1:c.*1231G>A	ENSP00000502911.1:n.*1231G>A
ENST00000677029.1:c.1560G>A	ENSP00000502936.1:p.Gln520=
ENST00000677099.1:c.*1726G>A	ENSP00000504553.1:n.*1726G>A
ENST00000677216.1:c.1665G>A	ENSP00000503772.1:p.Gln555=
ENST00000677221.1:n.1041G>A
ENST00000677295.1:c.*1238G>A	ENSP00000504346.1:n.*1238G>A
ENST00000677444.1:c.1961G>A
ENST00000677586.1:n.1383G>A
ENST00000677626.1:c.1665G>A	ENSP00000503552.1:p.Gln555=
ENST00000677853.1:c.*1024G>A	ENSP00000503488.1:n.*1024G>A
ENST00000678264.1:c.*1393G>A	ENSP00000503157.1:n.*1393G>A
ENST00000678303.1:c.1926G>A	ENSP00000503696.1:p.Gln642=
ENST00000678366.1:c.*2265G>A	ENSP00000504353.1:n.*2265G>A
ENST00000678546.1:c.*1961G>A	ENSP00000503062.1:n.*1961G>A
ENST00000678548.1:c.*2155G>A	ENSP00000503934.1:n.*2155G>A
ENST00000678626.1:n.1852G>A
ENST00000678739.1:c.*2182G>A	ENSP00000503806.1:n.*2182G>A
ENST00000678833.1:c.*1768G>A	ENSP00000503893.1:n.*1768G>A
ENST00000679023.1:c.1854G>A	ENSP00000503718.1:p.Gln618=
ENST00000679076.1:c.1635G>A
ENST00000679111.1:c.*772G>A	ENSP00000504257.1:n.*772G>A
ENST00000679189.1:c.1665G>A	ENSP00000503356.1:p.Gln555=
ENST00000341012.11:c.1854G>A	ENSP00000343034.7:p.Gln618=
ENST00000372220.4:c.879G>A	ENSP00000361294.4:p.Gln293=
ENST00000372228.7:c.2082G>A	ENSP00000361302.3:p.Gln694=
ENST00000402686.7:c.2016G>A	ENSP00000385797.3:p.Gln672=
ENST00000404875.6:c.1665G>A	ENSP00000384531.2:p.Gln555=
ENST00000423007.5:c.2016G>A	ENSP00000404119.1:p.Gln672=
ENST00000485278.5:n.2566G>A
NM_001077365.1:c.2016G>A	NP_001070833.1:p.Gln672=
NM_001077366.1:c.1854G>A	NP_001070834.1:p.Gln618=
NM_001136113.1:c.2016G>A	NP_001129585.1:p.Gln672=
NM_001136114.1:c.1665G>A	NP_001129586.1:p.Gln555=
NM_007171.3:c.2082G>A	NP_009102.3:p.Gln694=
XM_005272156.1:c.2082G>A	XP_005272213.1:p.Gln694=
XM_005272158.1:c.1920G>A	XP_005272215.1:p.Gln640=
XM_005272159.1:c.1731G>A	XP_005272216.1:p.Gln577=
XM_005272162.1:c.885G>A	XP_005272219.1:p.Gln295=
XM_006716932.1:c.1731G>A	XP_006716995.1:p.Gln577=
XM_011518140.1:c.1935G>A	XP_011516442.1:p.Gln645=
XM_011518141.1:c.1869G>A	XP_011516443.1:p.Gln623=
XM_011518142.1:c.1773G>A	XP_011516444.1:p.Gln591=
XM_011518143.1:c.1767G>A	XP_011516445.1:p.Gln589=
XM_011518145.1:c.1626G>A	XP_011516447.1:p.Gln542=
XM_011518147.1:c.954G>A	XP_011516449.1:p.Gln318=
XR_929703.1:n.2258G>A
NM_001353193.1:c.2082G>A	NP_001340122.1:p.Gln694=
NM_001353194.1:c.1854G>A	NP_001340123.1:p.Gln618=
NM_001353195.1:c.1665G>A	NP_001340124.1:p.Gln555=
NM_001353196.1:c.1926G>A	NP_001340125.1:p.Gln642=
NM_001353197.1:c.1920G>A	NP_001340126.1:p.Gln640=
NM_001353198.1:c.1920G>A	NP_001340127.1:p.Gln640=
NM_001353199.1:c.1731G>A	NP_001340128.1:p.Gln577=
NM_001353200.1:c.1560G>A	NP_001340129.1:p.Gln520=
NR_148391.1:n.2066G>A
NR_148392.1:n.2284G>A
NR_148393.1:n.2205G>A
NR_148394.1:n.1959G>A
NR_148395.1:n.2357G>A
NR_148396.1:n.1991G>A
NR_148397.1:n.2116G>A
NR_148398.1:n.2071G>A
NR_148399.1:n.2597G>A
NR_148400.1:n.2196G>A
XM_005272162.3:c.885G>A	XP_005272219.1:p.Gln295=
XM_006716932.2:c.1731G>A	XP_006716995.1:p.Gln577=
XM_011518140.2:c.1935G>A	XP_011516442.1:p.Gln645=
XM_011518141.2:c.1869G>A	XP_011516443.1:p.Gln623=
XM_011518142.2:c.1773G>A	XP_011516444.1:p.Gln591=
XM_011518143.2:c.1767G>A	XP_011516445.1:p.Gln589=
XM_011518145.2:c.1626G>A	XP_011516447.1:p.Gln542=
XM_017014205.2:c.885G>A	XP_016869694.1:p.Gln295=
XM_024447380.1:c.885G>A	XP_024303148.1:p.Gln295=
XM_024447381.1:c.1191G>A	XP_024303149.1:p.Gln397=
XM_024447382.1:c.885G>A	XP_024303150.1:p.Gln295=
XR_001746160.2:n.2186G>A
XR_001746162.2:n.2391G>A
XR_001746164.1:n.2108G>A
XR_001746166.2:n.2403G>A
NM_001077365.2:c.2016G>A MANE Select	NP_001070833.1:p.Gln672=
NM_001077366.2:c.1854G>A	NP_001070834.1:p.Gln618=
NM_001136113.2:c.2016G>A	NP_001129585.1:p.Gln672=
NM_001136114.2:c.1665G>A	NP_001129586.1:p.Gln555=
NM_001353193.2:c.2082G>A	NP_001340122.2:p.Gln694=
NM_001353194.2:c.1854G>A	NP_001340123.1:p.Gln618=
NM_001353195.2:c.1665G>A	NP_001340124.1:p.Gln555=
NM_001353196.2:c.1926G>A	NP_001340125.1:p.Gln642=
NM_001353197.2:c.1920G>A	NP_001340126.2:p.Gln640=
NM_001353198.2:c.1920G>A	NP_001340127.2:p.Gln640=
NM_001353199.2:c.1731G>A	NP_001340128.2:p.Gln577=
NM_001353200.2:c.1560G>A	NP_001340129.1:p.Gln520=
NM_001374689.1:c.2004G>A	NP_001361618.1:p.Gln668=
NM_001374690.1:c.1797G>A	NP_001361619.1:p.Gln599=
NM_001374691.1:c.1665G>A	NP_001361620.1:p.Gln555=
NM_001374692.1:c.1665G>A	NP_001361621.1:p.Gln555=
NM_001374693.1:c.1665G>A	NP_001361622.1:p.Gln555=
NM_001374695.1:c.1626G>A	NP_001361624.1:p.Gln542=
NM_007171.4:c.2082G>A	NP_009102.4:p.Gln694=
NR_148391.2:n.2050G>A
NR_148392.2:n.2268G>A
NR_148393.2:n.2189G>A
NR_148394.2:n.1943G>A
NR_148395.2:n.2341G>A
NR_148396.2:n.1975G>A
NR_148397.2:n.2100G>A
NR_148398.2:n.2055G>A
NR_148399.2:n.2581G>A
NR_148400.2:n.2180G>A