Canonical Allele Identifier: CA375315321

Gene: POMT1

Linked Data

• gnomAD v4: 9-131523048-A-G
• MyVariant Identifiers: chr9:g.134398435A>G (hg19) ; chr9:g.131523048A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523048A>G , CM000671.2:g.131523048A>G	GRCh38
NC_000009.11:g.134398435A>G , CM000671.1:g.134398435A>G	GRCh37
NC_000009.10:g.133388256A>G	NCBI36
NG_008896.1:g.25147A>G
NG_008896.2:g.25147A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1958A>G	ENSP00000343034.7:p.His653Arg
ENST00000404875.7:n.2660A>G
ENST00000423007.6:c.2177A>G	ENSP00000404119.2:p.His726Arg
ENST00000677295.2:c.*2464A>G	ENSP00000504346.2:n.*2464A>G
ENST00000678264.2:c.*2303A>G	ENSP00000503157.2:n.*2303A>G
ENST00000682070.1:n.2430A>G
ENST00000682639.1:c.117A>G
ENST00000682813.1:n.2517A>G
ENST00000683231.1:c.117A>G
ENST00000683392.1:n.4712A>G
ENST00000683712.1:n.2525A>G
ENST00000683900.1:n.4020A>G
ENST00000684062.1:n.2786A>G
ENST00000684399.1:c.117A>G
ENST00000684579.1:n.3966A>G
ENST00000341012.12:c.1958A>G	ENSP00000343034.7:p.His653Arg
ENST00000372220.5:c.989A>G	ENSP00000361294.5:p.His330Arg
ENST00000372228.9:c.2186A>G	ENSP00000361302.3:p.His729Arg
ENST00000402686.8:c.2120A>G MANE Select	ENSP00000385797.4:p.His707Arg
ENST00000676640.1:c.2120A>G	ENSP00000503281.1:p.His707Arg
ENST00000676803.1:c.1181A>G	ENSP00000503093.1:p.His394Arg
ENST00000676835.1:c.*1335A>G	ENSP00000502911.1:n.*1335A>G
ENST00000677029.1:c.1664A>G	ENSP00000502936.1:p.His555Arg
ENST00000677099.1:c.*1830A>G	ENSP00000504553.1:n.*1830A>G
ENST00000677216.1:c.1769A>G	ENSP00000503772.1:p.His590Arg
ENST00000677295.1:c.*1342A>G	ENSP00000504346.1:n.*1342A>G
ENST00000677444.1:c.2065A>G
ENST00000677586.1:n.1487A>G
ENST00000677626.1:c.1769A>G	ENSP00000503552.1:p.His590Arg
ENST00000677853.1:c.*1128A>G	ENSP00000503488.1:n.*1128A>G
ENST00000678264.1:c.*1497A>G	ENSP00000503157.1:n.*1497A>G
ENST00000678303.1:c.2030A>G	ENSP00000503696.1:p.His677Arg
ENST00000678366.1:c.*2369A>G	ENSP00000504353.1:n.*2369A>G
ENST00000678546.1:c.*2065A>G	ENSP00000503062.1:n.*2065A>G
ENST00000678548.1:c.*2259A>G	ENSP00000503934.1:n.*2259A>G
ENST00000678626.1:n.1956A>G
ENST00000678739.1:c.*2286A>G	ENSP00000503806.1:n.*2286A>G
ENST00000678833.1:c.*1872A>G	ENSP00000503893.1:n.*1872A>G
ENST00000679023.1:c.1958A>G	ENSP00000503718.1:p.His653Arg
ENST00000679076.1:c.1739A>G
ENST00000679111.1:c.*876A>G	ENSP00000504257.1:n.*876A>G
ENST00000679189.1:c.1769A>G	ENSP00000503356.1:p.His590Arg
ENST00000341012.11:c.1958A>G	ENSP00000343034.7:p.His653Arg
ENST00000372220.4:c.983A>G	ENSP00000361294.4:p.His328Arg
ENST00000372228.7:c.2186A>G	ENSP00000361302.3:p.His729Arg
ENST00000402686.7:c.2120A>G	ENSP00000385797.3:p.His707Arg
ENST00000404875.6:c.1769A>G	ENSP00000384531.2:p.His590Arg
ENST00000423007.5:c.2120A>G	ENSP00000404119.1:p.His707Arg
ENST00000485278.5:n.2670A>G
NM_001077365.1:c.2120A>G	NP_001070833.1:p.His707Arg
NM_001077366.1:c.1958A>G	NP_001070834.1:p.His653Arg
NM_001136113.1:c.2120A>G	NP_001129585.1:p.His707Arg
NM_001136114.1:c.1769A>G	NP_001129586.1:p.His590Arg
NM_007171.3:c.2186A>G	NP_009102.3:p.His729Arg
XM_005272156.1:c.2186A>G	XP_005272213.1:p.His729Arg
XM_005272158.1:c.2024A>G	XP_005272215.1:p.His675Arg
XM_005272159.1:c.1835A>G	XP_005272216.1:p.His612Arg
XM_005272162.1:c.989A>G	XP_005272219.1:p.His330Arg
XM_006716932.1:c.1835A>G	XP_006716995.1:p.His612Arg
XM_011518140.1:c.2039A>G	XP_011516442.1:p.His680Arg
XM_011518141.1:c.1973A>G	XP_011516443.1:p.His658Arg
XM_011518142.1:c.1877A>G	XP_011516444.1:p.His626Arg
XM_011518143.1:c.1871A>G	XP_011516445.1:p.His624Arg
XM_011518145.1:c.1730A>G	XP_011516447.1:p.His577Arg
XM_011518147.1:c.1058A>G	XP_011516449.1:p.His353Arg
XR_929703.1:n.2362A>G
NM_001353193.1:c.2186A>G	NP_001340122.1:p.His729Arg
NM_001353194.1:c.1958A>G	NP_001340123.1:p.His653Arg
NM_001353195.1:c.1769A>G	NP_001340124.1:p.His590Arg
NM_001353196.1:c.2030A>G	NP_001340125.1:p.His677Arg
NM_001353197.1:c.2024A>G	NP_001340126.1:p.His675Arg
NM_001353198.1:c.2024A>G	NP_001340127.1:p.His675Arg
NM_001353199.1:c.1835A>G	NP_001340128.1:p.His612Arg
NM_001353200.1:c.1664A>G	NP_001340129.1:p.His555Arg
NR_148391.1:n.2170A>G
NR_148392.1:n.2388A>G
NR_148393.1:n.2309A>G
NR_148394.1:n.2063A>G
NR_148395.1:n.2461A>G
NR_148396.1:n.2095A>G
NR_148397.1:n.2220A>G
NR_148398.1:n.2175A>G
NR_148399.1:n.2701A>G
NR_148400.1:n.2300A>G
XM_005272162.3:c.989A>G	XP_005272219.1:p.His330Arg
XM_006716932.2:c.1835A>G	XP_006716995.1:p.His612Arg
XM_011518140.2:c.2039A>G	XP_011516442.1:p.His680Arg
XM_011518141.2:c.1973A>G	XP_011516443.1:p.His658Arg
XM_011518142.2:c.1877A>G	XP_011516444.1:p.His626Arg
XM_011518143.2:c.1871A>G	XP_011516445.1:p.His624Arg
XM_011518145.2:c.1730A>G	XP_011516447.1:p.His577Arg
XM_017014205.2:c.989A>G	XP_016869694.1:p.His330Arg
XM_024447380.1:c.989A>G	XP_024303148.1:p.His330Arg
XM_024447381.1:c.1295A>G	XP_024303149.1:p.His432Arg
XM_024447382.1:c.989A>G	XP_024303150.1:p.His330Arg
XR_001746160.2:n.2290A>G
XR_001746162.2:n.2495A>G
XR_001746164.1:n.2212A>G
XR_001746166.2:n.2507A>G
NM_001077365.2:c.2120A>G MANE Select	NP_001070833.1:p.His707Arg
NM_001077366.2:c.1958A>G	NP_001070834.1:p.His653Arg
NM_001136113.2:c.2120A>G	NP_001129585.1:p.His707Arg
NM_001136114.2:c.1769A>G	NP_001129586.1:p.His590Arg
NM_001353193.2:c.2186A>G	NP_001340122.2:p.His729Arg
NM_001353194.2:c.1958A>G	NP_001340123.1:p.His653Arg
NM_001353195.2:c.1769A>G	NP_001340124.1:p.His590Arg
NM_001353196.2:c.2030A>G	NP_001340125.1:p.His677Arg
NM_001353197.2:c.2024A>G	NP_001340126.2:p.His675Arg
NM_001353198.2:c.2024A>G	NP_001340127.2:p.His675Arg
NM_001353199.2:c.1835A>G	NP_001340128.2:p.His612Arg
NM_001353200.2:c.1664A>G	NP_001340129.1:p.His555Arg
NM_001374689.1:c.2108A>G	NP_001361618.1:p.His703Arg
NM_001374690.1:c.1901A>G	NP_001361619.1:p.His634Arg
NM_001374691.1:c.1769A>G	NP_001361620.1:p.His590Arg
NM_001374692.1:c.1769A>G	NP_001361621.1:p.His590Arg
NM_001374693.1:c.1769A>G	NP_001361622.1:p.His590Arg
NM_001374695.1:c.1730A>G	NP_001361624.1:p.His577Arg
NM_007171.4:c.2186A>G	NP_009102.4:p.His729Arg
NR_148391.2:n.2154A>G
NR_148392.2:n.2372A>G
NR_148393.2:n.2293A>G
NR_148394.2:n.2047A>G
NR_148395.2:n.2445A>G
NR_148396.2:n.2079A>G
NR_148397.2:n.2204A>G
NR_148398.2:n.2159A>G
NR_148399.2:n.2685A>G
NR_148400.2:n.2284A>G