Canonical Allele Identifier: CA5293932

Gene: POMT1

Linked Data

• ClinVar Variation Id: 1003439
• ClinVar RCV Id: RCV001299990
• dbSNP Id: rs767241035
• ExAC: 9:134398393 C / T
• gnomAD v2: 9-134398393-C-T
• gnomAD v3: 9-131523006-C-T
• gnomAD v4: 9-131523006-C-T
• MyVariant Identifiers: chr9:g.134398393C>T (hg19) ; chr9:g.131523006C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523006C>T , CM000671.2:g.131523006C>T	GRCh38
NC_000009.11:g.134398393C>T , CM000671.1:g.134398393C>T	GRCh37
NC_000009.10:g.133388214C>T	NCBI36
NG_008896.1:g.25105C>T
NG_008896.2:g.25105C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1916C>T	ENSP00000343034.7:p.Thr639Met
ENST00000404875.7:n.2618C>T
ENST00000423007.6:c.2135C>T	ENSP00000404119.2:p.Thr712Met
ENST00000677295.2:c.*2422C>T	ENSP00000504346.2:n.*2422C>T
ENST00000678264.2:c.*2261C>T	ENSP00000503157.2:n.*2261C>T
ENST00000682070.1:n.2388C>T
ENST00000682639.1:c.75C>T
ENST00000682813.1:n.2475C>T
ENST00000683231.1:c.75C>T
ENST00000683392.1:n.4670C>T
ENST00000683712.1:n.2483C>T
ENST00000683900.1:n.3978C>T
ENST00000684062.1:n.2744C>T
ENST00000684399.1:c.75C>T
ENST00000684579.1:n.3924C>T
ENST00000341012.12:c.1916C>T	ENSP00000343034.7:p.Thr639Met
ENST00000372220.5:c.947C>T	ENSP00000361294.5:p.Thr316Met
ENST00000372228.9:c.2144C>T	ENSP00000361302.3:p.Thr715Met
ENST00000402686.8:c.2078C>T MANE Select	ENSP00000385797.4:p.Thr693Met
ENST00000676640.1:c.2078C>T	ENSP00000503281.1:p.Thr693Met
ENST00000676803.1:c.1139C>T	ENSP00000503093.1:p.Thr380Met
ENST00000676835.1:c.*1293C>T	ENSP00000502911.1:n.*1293C>T
ENST00000677029.1:c.1622C>T	ENSP00000502936.1:p.Thr541Met
ENST00000677099.1:c.*1788C>T	ENSP00000504553.1:n.*1788C>T
ENST00000677216.1:c.1727C>T	ENSP00000503772.1:p.Thr576Met
ENST00000677221.1:n.1103C>T
ENST00000677295.1:c.*1300C>T	ENSP00000504346.1:n.*1300C>T
ENST00000677444.1:c.2023C>T
ENST00000677586.1:n.1445C>T
ENST00000677626.1:c.1727C>T	ENSP00000503552.1:p.Thr576Met
ENST00000677853.1:c.*1086C>T	ENSP00000503488.1:n.*1086C>T
ENST00000678264.1:c.*1455C>T	ENSP00000503157.1:n.*1455C>T
ENST00000678303.1:c.1988C>T	ENSP00000503696.1:p.Thr663Met
ENST00000678366.1:c.*2327C>T	ENSP00000504353.1:n.*2327C>T
ENST00000678546.1:c.*2023C>T	ENSP00000503062.1:n.*2023C>T
ENST00000678548.1:c.*2217C>T	ENSP00000503934.1:n.*2217C>T
ENST00000678626.1:n.1914C>T
ENST00000678739.1:c.*2244C>T	ENSP00000503806.1:n.*2244C>T
ENST00000678833.1:c.*1830C>T	ENSP00000503893.1:n.*1830C>T
ENST00000679023.1:c.1916C>T	ENSP00000503718.1:p.Thr639Met
ENST00000679076.1:c.1697C>T
ENST00000679111.1:c.*834C>T	ENSP00000504257.1:n.*834C>T
ENST00000679189.1:c.1727C>T	ENSP00000503356.1:p.Thr576Met
ENST00000341012.11:c.1916C>T	ENSP00000343034.7:p.Thr639Met
ENST00000372220.4:c.941C>T	ENSP00000361294.4:p.Thr314Met
ENST00000372228.7:c.2144C>T	ENSP00000361302.3:p.Thr715Met
ENST00000402686.7:c.2078C>T	ENSP00000385797.3:p.Thr693Met
ENST00000404875.6:c.1727C>T	ENSP00000384531.2:p.Thr576Met
ENST00000423007.5:c.2078C>T	ENSP00000404119.1:p.Thr693Met
ENST00000485278.5:n.2628C>T
NM_001077365.1:c.2078C>T	NP_001070833.1:p.Thr693Met
NM_001077366.1:c.1916C>T	NP_001070834.1:p.Thr639Met
NM_001136113.1:c.2078C>T	NP_001129585.1:p.Thr693Met
NM_001136114.1:c.1727C>T	NP_001129586.1:p.Thr576Met
NM_007171.3:c.2144C>T	NP_009102.3:p.Thr715Met
XM_005272156.1:c.2144C>T	XP_005272213.1:p.Thr715Met
XM_005272158.1:c.1982C>T	XP_005272215.1:p.Thr661Met
XM_005272159.1:c.1793C>T	XP_005272216.1:p.Thr598Met
XM_005272162.1:c.947C>T	XP_005272219.1:p.Thr316Met
XM_006716932.1:c.1793C>T	XP_006716995.1:p.Thr598Met
XM_011518140.1:c.1997C>T	XP_011516442.1:p.Thr666Met
XM_011518141.1:c.1931C>T	XP_011516443.1:p.Thr644Met
XM_011518142.1:c.1835C>T	XP_011516444.1:p.Thr612Met
XM_011518143.1:c.1829C>T	XP_011516445.1:p.Thr610Met
XM_011518145.1:c.1688C>T	XP_011516447.1:p.Thr563Met
XM_011518147.1:c.1016C>T	XP_011516449.1:p.Thr339Met
XR_929703.1:n.2320C>T
NM_001353193.1:c.2144C>T	NP_001340122.1:p.Thr715Met
NM_001353194.1:c.1916C>T	NP_001340123.1:p.Thr639Met
NM_001353195.1:c.1727C>T	NP_001340124.1:p.Thr576Met
NM_001353196.1:c.1988C>T	NP_001340125.1:p.Thr663Met
NM_001353197.1:c.1982C>T	NP_001340126.1:p.Thr661Met
NM_001353198.1:c.1982C>T	NP_001340127.1:p.Thr661Met
NM_001353199.1:c.1793C>T	NP_001340128.1:p.Thr598Met
NM_001353200.1:c.1622C>T	NP_001340129.1:p.Thr541Met
NR_148391.1:n.2128C>T
NR_148392.1:n.2346C>T
NR_148393.1:n.2267C>T
NR_148394.1:n.2021C>T
NR_148395.1:n.2419C>T
NR_148396.1:n.2053C>T
NR_148397.1:n.2178C>T
NR_148398.1:n.2133C>T
NR_148399.1:n.2659C>T
NR_148400.1:n.2258C>T
XM_005272162.3:c.947C>T	XP_005272219.1:p.Thr316Met
XM_006716932.2:c.1793C>T	XP_006716995.1:p.Thr598Met
XM_011518140.2:c.1997C>T	XP_011516442.1:p.Thr666Met
XM_011518141.2:c.1931C>T	XP_011516443.1:p.Thr644Met
XM_011518142.2:c.1835C>T	XP_011516444.1:p.Thr612Met
XM_011518143.2:c.1829C>T	XP_011516445.1:p.Thr610Met
XM_011518145.2:c.1688C>T	XP_011516447.1:p.Thr563Met
XM_017014205.2:c.947C>T	XP_016869694.1:p.Thr316Met
XM_024447380.1:c.947C>T	XP_024303148.1:p.Thr316Met
XM_024447381.1:c.1253C>T	XP_024303149.1:p.Thr418Met
XM_024447382.1:c.947C>T	XP_024303150.1:p.Thr316Met
XR_001746160.2:n.2248C>T
XR_001746162.2:n.2453C>T
XR_001746164.1:n.2170C>T
XR_001746166.2:n.2465C>T
NM_001077365.2:c.2078C>T MANE Select	NP_001070833.1:p.Thr693Met
NM_001077366.2:c.1916C>T	NP_001070834.1:p.Thr639Met
NM_001136113.2:c.2078C>T	NP_001129585.1:p.Thr693Met
NM_001136114.2:c.1727C>T	NP_001129586.1:p.Thr576Met
NM_001353193.2:c.2144C>T	NP_001340122.2:p.Thr715Met
NM_001353194.2:c.1916C>T	NP_001340123.1:p.Thr639Met
NM_001353195.2:c.1727C>T	NP_001340124.1:p.Thr576Met
NM_001353196.2:c.1988C>T	NP_001340125.1:p.Thr663Met
NM_001353197.2:c.1982C>T	NP_001340126.2:p.Thr661Met
NM_001353198.2:c.1982C>T	NP_001340127.2:p.Thr661Met
NM_001353199.2:c.1793C>T	NP_001340128.2:p.Thr598Met
NM_001353200.2:c.1622C>T	NP_001340129.1:p.Thr541Met
NM_001374689.1:c.2066C>T	NP_001361618.1:p.Thr689Met
NM_001374690.1:c.1859C>T	NP_001361619.1:p.Thr620Met
NM_001374691.1:c.1727C>T	NP_001361620.1:p.Thr576Met
NM_001374692.1:c.1727C>T	NP_001361621.1:p.Thr576Met
NM_001374693.1:c.1727C>T	NP_001361622.1:p.Thr576Met
NM_001374695.1:c.1688C>T	NP_001361624.1:p.Thr563Met
NM_007171.4:c.2144C>T	NP_009102.4:p.Thr715Met
NR_148391.2:n.2112C>T
NR_148392.2:n.2330C>T
NR_148393.2:n.2251C>T
NR_148394.2:n.2005C>T
NR_148395.2:n.2403C>T
NR_148396.2:n.2037C>T
NR_148397.2:n.2162C>T
NR_148398.2:n.2117C>T
NR_148399.2:n.2643C>T
NR_148400.2:n.2242C>T