Canonical Allele Identifier: CA375315000

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134398348C>G (hg19) ; chr9:g.131522961C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522961C>G , CM000671.2:g.131522961C>G	GRCh38
NC_000009.11:g.134398348C>G , CM000671.1:g.134398348C>G	GRCh37
NC_000009.10:g.133388169C>G	NCBI36
NG_008896.1:g.25060C>G
NG_008896.2:g.25060C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1871C>G	ENSP00000343034.7:p.Ala624Gly
ENST00000404875.7:n.2573C>G
ENST00000423007.6:c.2090C>G	ENSP00000404119.2:p.Ala697Gly
ENST00000677295.2:c.*2377C>G	ENSP00000504346.2:n.*2377C>G
ENST00000678264.2:c.*2216C>G	ENSP00000503157.2:n.*2216C>G
ENST00000682070.1:n.2343C>G
ENST00000682639.1:c.30C>G
ENST00000682813.1:n.2430C>G
ENST00000683231.1:c.30C>G
ENST00000683392.1:n.4625C>G
ENST00000683712.1:n.2438C>G
ENST00000683900.1:n.3933C>G
ENST00000684062.1:n.2699C>G
ENST00000684399.1:c.30C>G
ENST00000684579.1:n.3879C>G
ENST00000341012.12:c.1871C>G	ENSP00000343034.7:p.Ala624Gly
ENST00000372220.5:c.902C>G	ENSP00000361294.5:p.Ala301Gly
ENST00000372228.9:c.2099C>G	ENSP00000361302.3:p.Ala700Gly
ENST00000402686.8:c.2033C>G MANE Select	ENSP00000385797.4:p.Ala678Gly
ENST00000676640.1:c.2033C>G	ENSP00000503281.1:p.Ala678Gly
ENST00000676803.1:c.1094C>G	ENSP00000503093.1:p.Ala365Gly
ENST00000676835.1:c.*1248C>G	ENSP00000502911.1:n.*1248C>G
ENST00000677029.1:c.1577C>G	ENSP00000502936.1:p.Ala526Gly
ENST00000677099.1:c.*1743C>G	ENSP00000504553.1:n.*1743C>G
ENST00000677216.1:c.1682C>G	ENSP00000503772.1:p.Ala561Gly
ENST00000677221.1:n.1058C>G
ENST00000677295.1:c.*1255C>G	ENSP00000504346.1:n.*1255C>G
ENST00000677444.1:c.1978C>G
ENST00000677586.1:n.1400C>G
ENST00000677626.1:c.1682C>G	ENSP00000503552.1:p.Ala561Gly
ENST00000677853.1:c.*1041C>G	ENSP00000503488.1:n.*1041C>G
ENST00000678264.1:c.*1410C>G	ENSP00000503157.1:n.*1410C>G
ENST00000678303.1:c.1943C>G	ENSP00000503696.1:p.Ala648Gly
ENST00000678366.1:c.*2282C>G	ENSP00000504353.1:n.*2282C>G
ENST00000678546.1:c.*1978C>G	ENSP00000503062.1:n.*1978C>G
ENST00000678548.1:c.*2172C>G	ENSP00000503934.1:n.*2172C>G
ENST00000678626.1:n.1869C>G
ENST00000678739.1:c.*2199C>G	ENSP00000503806.1:n.*2199C>G
ENST00000678833.1:c.*1785C>G	ENSP00000503893.1:n.*1785C>G
ENST00000679023.1:c.1871C>G	ENSP00000503718.1:p.Ala624Gly
ENST00000679076.1:c.1652C>G
ENST00000679111.1:c.*789C>G	ENSP00000504257.1:n.*789C>G
ENST00000679189.1:c.1682C>G	ENSP00000503356.1:p.Ala561Gly
ENST00000341012.11:c.1871C>G	ENSP00000343034.7:p.Ala624Gly
ENST00000372220.4:c.896C>G	ENSP00000361294.4:p.Ala299Gly
ENST00000372228.7:c.2099C>G	ENSP00000361302.3:p.Ala700Gly
ENST00000402686.7:c.2033C>G	ENSP00000385797.3:p.Ala678Gly
ENST00000404875.6:c.1682C>G	ENSP00000384531.2:p.Ala561Gly
ENST00000423007.5:c.2033C>G	ENSP00000404119.1:p.Ala678Gly
ENST00000485278.5:n.2583C>G
NM_001077365.1:c.2033C>G	NP_001070833.1:p.Ala678Gly
NM_001077366.1:c.1871C>G	NP_001070834.1:p.Ala624Gly
NM_001136113.1:c.2033C>G	NP_001129585.1:p.Ala678Gly
NM_001136114.1:c.1682C>G	NP_001129586.1:p.Ala561Gly
NM_007171.3:c.2099C>G	NP_009102.3:p.Ala700Gly
XM_005272156.1:c.2099C>G	XP_005272213.1:p.Ala700Gly
XM_005272158.1:c.1937C>G	XP_005272215.1:p.Ala646Gly
XM_005272159.1:c.1748C>G	XP_005272216.1:p.Ala583Gly
XM_005272162.1:c.902C>G	XP_005272219.1:p.Ala301Gly
XM_006716932.1:c.1748C>G	XP_006716995.1:p.Ala583Gly
XM_011518140.1:c.1952C>G	XP_011516442.1:p.Ala651Gly
XM_011518141.1:c.1886C>G	XP_011516443.1:p.Ala629Gly
XM_011518142.1:c.1790C>G	XP_011516444.1:p.Ala597Gly
XM_011518143.1:c.1784C>G	XP_011516445.1:p.Ala595Gly
XM_011518145.1:c.1643C>G	XP_011516447.1:p.Ala548Gly
XM_011518147.1:c.971C>G	XP_011516449.1:p.Ala324Gly
XR_929703.1:n.2275C>G
NM_001353193.1:c.2099C>G	NP_001340122.1:p.Ala700Gly
NM_001353194.1:c.1871C>G	NP_001340123.1:p.Ala624Gly
NM_001353195.1:c.1682C>G	NP_001340124.1:p.Ala561Gly
NM_001353196.1:c.1943C>G	NP_001340125.1:p.Ala648Gly
NM_001353197.1:c.1937C>G	NP_001340126.1:p.Ala646Gly
NM_001353198.1:c.1937C>G	NP_001340127.1:p.Ala646Gly
NM_001353199.1:c.1748C>G	NP_001340128.1:p.Ala583Gly
NM_001353200.1:c.1577C>G	NP_001340129.1:p.Ala526Gly
NR_148391.1:n.2083C>G
NR_148392.1:n.2301C>G
NR_148393.1:n.2222C>G
NR_148394.1:n.1976C>G
NR_148395.1:n.2374C>G
NR_148396.1:n.2008C>G
NR_148397.1:n.2133C>G
NR_148398.1:n.2088C>G
NR_148399.1:n.2614C>G
NR_148400.1:n.2213C>G
XM_005272162.3:c.902C>G	XP_005272219.1:p.Ala301Gly
XM_006716932.2:c.1748C>G	XP_006716995.1:p.Ala583Gly
XM_011518140.2:c.1952C>G	XP_011516442.1:p.Ala651Gly
XM_011518141.2:c.1886C>G	XP_011516443.1:p.Ala629Gly
XM_011518142.2:c.1790C>G	XP_011516444.1:p.Ala597Gly
XM_011518143.2:c.1784C>G	XP_011516445.1:p.Ala595Gly
XM_011518145.2:c.1643C>G	XP_011516447.1:p.Ala548Gly
XM_017014205.2:c.902C>G	XP_016869694.1:p.Ala301Gly
XM_024447380.1:c.902C>G	XP_024303148.1:p.Ala301Gly
XM_024447381.1:c.1208C>G	XP_024303149.1:p.Ala403Gly
XM_024447382.1:c.902C>G	XP_024303150.1:p.Ala301Gly
XR_001746160.2:n.2203C>G
XR_001746162.2:n.2408C>G
XR_001746164.1:n.2125C>G
XR_001746166.2:n.2420C>G
NM_001077365.2:c.2033C>G MANE Select	NP_001070833.1:p.Ala678Gly
NM_001077366.2:c.1871C>G	NP_001070834.1:p.Ala624Gly
NM_001136113.2:c.2033C>G	NP_001129585.1:p.Ala678Gly
NM_001136114.2:c.1682C>G	NP_001129586.1:p.Ala561Gly
NM_001353193.2:c.2099C>G	NP_001340122.2:p.Ala700Gly
NM_001353194.2:c.1871C>G	NP_001340123.1:p.Ala624Gly
NM_001353195.2:c.1682C>G	NP_001340124.1:p.Ala561Gly
NM_001353196.2:c.1943C>G	NP_001340125.1:p.Ala648Gly
NM_001353197.2:c.1937C>G	NP_001340126.2:p.Ala646Gly
NM_001353198.2:c.1937C>G	NP_001340127.2:p.Ala646Gly
NM_001353199.2:c.1748C>G	NP_001340128.2:p.Ala583Gly
NM_001353200.2:c.1577C>G	NP_001340129.1:p.Ala526Gly
NM_001374689.1:c.2021C>G	NP_001361618.1:p.Ala674Gly
NM_001374690.1:c.1814C>G	NP_001361619.1:p.Ala605Gly
NM_001374691.1:c.1682C>G	NP_001361620.1:p.Ala561Gly
NM_001374692.1:c.1682C>G	NP_001361621.1:p.Ala561Gly
NM_001374693.1:c.1682C>G	NP_001361622.1:p.Ala561Gly
NM_001374695.1:c.1643C>G	NP_001361624.1:p.Ala548Gly
NM_007171.4:c.2099C>G	NP_009102.4:p.Ala700Gly
NR_148391.2:n.2067C>G
NR_148392.2:n.2285C>G
NR_148393.2:n.2206C>G
NR_148394.2:n.1960C>G
NR_148395.2:n.2358C>G
NR_148396.2:n.1992C>G
NR_148397.2:n.2117C>G
NR_148398.2:n.2072C>G
NR_148399.2:n.2598C>G
NR_148400.2:n.2197C>G