Canonical Allele Identifier: CA375314699

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134397591C>A (hg19) ; chr9:g.131522204C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522204C>A , CM000671.2:g.131522204C>A	GRCh38
NC_000009.11:g.134397591C>A , CM000671.1:g.134397591C>A	GRCh37
NC_000009.10:g.133387412C>A	NCBI36
NG_008896.1:g.24303C>A
NG_008896.2:g.24303C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1821C>A	ENSP00000343034.7:p.His607Gln
ENST00000404875.7:n.2523C>A
ENST00000423007.6:c.2040C>A	ENSP00000404119.2:p.His680Gln
ENST00000677295.2:c.*2327C>A	ENSP00000504346.2:n.*2327C>A
ENST00000678264.2:c.*2166C>A	ENSP00000503157.2:n.*2166C>A
ENST00000682070.1:n.2293C>A
ENST00000682813.1:n.2387C>A
ENST00000683392.1:n.4575C>A
ENST00000683712.1:n.2388C>A
ENST00000683900.1:n.3883C>A
ENST00000684062.1:n.2649C>A
ENST00000684579.1:n.3829C>A
ENST00000341012.12:c.1821C>A	ENSP00000343034.7:p.His607Gln
ENST00000372220.5:c.852C>A	ENSP00000361294.5:p.His284Gln
ENST00000372228.9:c.2049C>A	ENSP00000361302.3:p.His683Gln
ENST00000402686.8:c.1983C>A MANE Select	ENSP00000385797.4:p.His661Gln
ENST00000676640.1:c.1983C>A	ENSP00000503281.1:p.His661Gln
ENST00000676803.1:c.1044C>A	ENSP00000503093.1:p.His348Gln
ENST00000676835.1:c.*1198C>A	ENSP00000502911.1:n.*1198C>A
ENST00000677029.1:c.1527C>A	ENSP00000502936.1:p.His509Gln
ENST00000677099.1:c.*1693C>A	ENSP00000504553.1:n.*1693C>A
ENST00000677216.1:c.1632C>A	ENSP00000503772.1:p.His544Gln
ENST00000677221.1:n.1008C>A
ENST00000677295.1:c.*1205C>A	ENSP00000504346.1:n.*1205C>A
ENST00000677444.1:c.1928C>A
ENST00000677586.1:n.1350C>A
ENST00000677626.1:c.1632C>A	ENSP00000503552.1:p.His544Gln
ENST00000677853.1:c.*991C>A	ENSP00000503488.1:n.*991C>A
ENST00000678264.1:c.*1360C>A	ENSP00000503157.1:n.*1360C>A
ENST00000678303.1:c.1893C>A	ENSP00000503696.1:p.His631Gln
ENST00000678366.1:c.*2232C>A	ENSP00000504353.1:n.*2232C>A
ENST00000678546.1:c.*1928C>A	ENSP00000503062.1:n.*1928C>A
ENST00000678548.1:c.*2122C>A	ENSP00000503934.1:n.*2122C>A
ENST00000678626.1:n.1819C>A
ENST00000678739.1:c.*2149C>A	ENSP00000503806.1:n.*2149C>A
ENST00000678833.1:c.*1735C>A	ENSP00000503893.1:n.*1735C>A
ENST00000679023.1:c.1821C>A	ENSP00000503718.1:p.His607Gln
ENST00000679076.1:c.1602C>A
ENST00000679111.1:c.*739C>A	ENSP00000504257.1:n.*739C>A
ENST00000679189.1:c.1632C>A	ENSP00000503356.1:p.His544Gln
ENST00000341012.11:c.1821C>A	ENSP00000343034.7:p.His607Gln
ENST00000372220.4:c.846C>A	ENSP00000361294.4:p.His282Gln
ENST00000372228.7:c.2049C>A	ENSP00000361302.3:p.His683Gln
ENST00000402686.7:c.1983C>A	ENSP00000385797.3:p.His661Gln
ENST00000404875.6:c.1632C>A	ENSP00000384531.2:p.His544Gln
ENST00000423007.5:c.1983C>A	ENSP00000404119.1:p.His661Gln
ENST00000485278.5:n.2533C>A
ENST00000494883.1:n.526C>A
NM_001077365.1:c.1983C>A	NP_001070833.1:p.His661Gln
NM_001077366.1:c.1821C>A	NP_001070834.1:p.His607Gln
NM_001136113.1:c.1983C>A	NP_001129585.1:p.His661Gln
NM_001136114.1:c.1632C>A	NP_001129586.1:p.His544Gln
NM_007171.3:c.2049C>A	NP_009102.3:p.His683Gln
XM_005272156.1:c.2049C>A	XP_005272213.1:p.His683Gln
XM_005272158.1:c.1887C>A	XP_005272215.1:p.His629Gln
XM_005272159.1:c.1698C>A	XP_005272216.1:p.His566Gln
XM_005272162.1:c.852C>A	XP_005272219.1:p.His284Gln
XM_006716932.1:c.1698C>A	XP_006716995.1:p.His566Gln
XM_011518140.1:c.1902C>A	XP_011516442.1:p.His634Gln
XM_011518141.1:c.1836C>A	XP_011516443.1:p.His612Gln
XM_011518142.1:c.1740C>A	XP_011516444.1:p.His580Gln
XM_011518143.1:c.1734C>A	XP_011516445.1:p.His578Gln
XM_011518145.1:c.1593C>A	XP_011516447.1:p.His531Gln
XM_011518147.1:c.921C>A	XP_011516449.1:p.His307Gln
XR_929703.1:n.2225C>A
NM_001353193.1:c.2049C>A	NP_001340122.1:p.His683Gln
NM_001353194.1:c.1821C>A	NP_001340123.1:p.His607Gln
NM_001353195.1:c.1632C>A	NP_001340124.1:p.His544Gln
NM_001353196.1:c.1893C>A	NP_001340125.1:p.His631Gln
NM_001353197.1:c.1887C>A	NP_001340126.1:p.His629Gln
NM_001353198.1:c.1887C>A	NP_001340127.1:p.His629Gln
NM_001353199.1:c.1698C>A	NP_001340128.1:p.His566Gln
NM_001353200.1:c.1527C>A	NP_001340129.1:p.His509Gln
NR_148391.1:n.2033C>A
NR_148392.1:n.2251C>A
NR_148393.1:n.2172C>A
NR_148394.1:n.1926C>A
NR_148395.1:n.2324C>A
NR_148396.1:n.1958C>A
NR_148397.1:n.2083C>A
NR_148398.1:n.2038C>A
NR_148399.1:n.2564C>A
NR_148400.1:n.2163C>A
XM_005272162.3:c.852C>A	XP_005272219.1:p.His284Gln
XM_006716932.2:c.1698C>A	XP_006716995.1:p.His566Gln
XM_011518140.2:c.1902C>A	XP_011516442.1:p.His634Gln
XM_011518141.2:c.1836C>A	XP_011516443.1:p.His612Gln
XM_011518142.2:c.1740C>A	XP_011516444.1:p.His580Gln
XM_011518143.2:c.1734C>A	XP_011516445.1:p.His578Gln
XM_011518145.2:c.1593C>A	XP_011516447.1:p.His531Gln
XM_017014205.2:c.852C>A	XP_016869694.1:p.His284Gln
XM_024447380.1:c.852C>A	XP_024303148.1:p.His284Gln
XM_024447381.1:c.1158C>A	XP_024303149.1:p.His386Gln
XM_024447382.1:c.852C>A	XP_024303150.1:p.His284Gln
XR_001746160.2:n.2153C>A
XR_001746162.2:n.2358C>A
XR_001746164.1:n.2075C>A
XR_001746166.2:n.2370C>A
NM_001077365.2:c.1983C>A MANE Select	NP_001070833.1:p.His661Gln
NM_001077366.2:c.1821C>A	NP_001070834.1:p.His607Gln
NM_001136113.2:c.1983C>A	NP_001129585.1:p.His661Gln
NM_001136114.2:c.1632C>A	NP_001129586.1:p.His544Gln
NM_001353193.2:c.2049C>A	NP_001340122.2:p.His683Gln
NM_001353194.2:c.1821C>A	NP_001340123.1:p.His607Gln
NM_001353195.2:c.1632C>A	NP_001340124.1:p.His544Gln
NM_001353196.2:c.1893C>A	NP_001340125.1:p.His631Gln
NM_001353197.2:c.1887C>A	NP_001340126.2:p.His629Gln
NM_001353198.2:c.1887C>A	NP_001340127.2:p.His629Gln
NM_001353199.2:c.1698C>A	NP_001340128.2:p.His566Gln
NM_001353200.2:c.1527C>A	NP_001340129.1:p.His509Gln
NM_001374689.1:c.1971C>A	NP_001361618.1:p.His657Gln
NM_001374690.1:c.1764C>A	NP_001361619.1:p.His588Gln
NM_001374691.1:c.1632C>A	NP_001361620.1:p.His544Gln
NM_001374692.1:c.1632C>A	NP_001361621.1:p.His544Gln
NM_001374693.1:c.1632C>A	NP_001361622.1:p.His544Gln
NM_001374695.1:c.1593C>A	NP_001361624.1:p.His531Gln
NM_007171.4:c.2049C>A	NP_009102.4:p.His683Gln
NR_148391.2:n.2017C>A
NR_148392.2:n.2235C>A
NR_148393.2:n.2156C>A
NR_148394.2:n.1910C>A
NR_148395.2:n.2308C>A
NR_148396.2:n.1942C>A
NR_148397.2:n.2067C>A
NR_148398.2:n.2022C>A
NR_148399.2:n.2548C>A
NR_148400.2:n.2147C>A