Canonical Allele Identifier: CA375314493

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134397536A>G (hg19) ; chr9:g.131522149A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522149A>G , CM000671.2:g.131522149A>G	GRCh38
NC_000009.11:g.134397536A>G , CM000671.1:g.134397536A>G	GRCh37
NC_000009.10:g.133387357A>G	NCBI36
NG_008896.1:g.24248A>G
NG_008896.2:g.24248A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1766A>G	ENSP00000343034.7:p.His589Arg
ENST00000404875.7:n.2468A>G
ENST00000423007.6:c.1985A>G	ENSP00000404119.2:p.His662Arg
ENST00000677295.2:c.*2272A>G	ENSP00000504346.2:n.*2272A>G
ENST00000678264.2:c.*2111A>G	ENSP00000503157.2:n.*2111A>G
ENST00000682070.1:n.2291-53A>G
ENST00000682813.1:n.2332A>G
ENST00000683392.1:n.4573-53A>G
ENST00000683712.1:n.2333A>G
ENST00000683900.1:n.3828A>G
ENST00000684062.1:n.2594A>G
ENST00000684579.1:n.3774A>G
ENST00000684679.1:n.1155A>G
ENST00000341012.12:c.1766A>G	ENSP00000343034.7:p.His589Arg
ENST00000372220.5:c.797A>G	ENSP00000361294.5:p.His266Arg
ENST00000372228.9:c.1994A>G	ENSP00000361302.3:p.His665Arg
ENST00000402686.8:c.1928A>G MANE Select	ENSP00000385797.4:p.His643Arg
ENST00000676640.1:c.1928A>G	ENSP00000503281.1:p.His643Arg
ENST00000676803.1:c.989A>G	ENSP00000503093.1:p.His330Arg
ENST00000676835.1:c.*1143A>G	ENSP00000502911.1:n.*1143A>G
ENST00000677029.1:c.1472A>G	ENSP00000502936.1:p.His491Arg
ENST00000677099.1:c.*1638A>G	ENSP00000504553.1:n.*1638A>G
ENST00000677216.1:c.1577A>G	ENSP00000503772.1:p.His526Arg
ENST00000677221.1:n.953A>G
ENST00000677295.1:c.*1203-53A>G	ENSP00000504346.1:n.*1203-53A>G
ENST00000677444.1:c.1873A>G
ENST00000677586.1:n.1295A>G
ENST00000677626.1:c.1577A>G	ENSP00000503552.1:p.His526Arg
ENST00000677853.1:c.*936A>G	ENSP00000503488.1:n.*936A>G
ENST00000678202.1:n.1087A>G
ENST00000678264.1:c.*1305A>G	ENSP00000503157.1:n.*1305A>G
ENST00000678303.1:c.1838A>G	ENSP00000503696.1:p.His613Arg
ENST00000678366.1:c.*2177A>G	ENSP00000504353.1:n.*2177A>G
ENST00000678546.1:c.*1873A>G	ENSP00000503062.1:n.*1873A>G
ENST00000678548.1:c.*2067A>G	ENSP00000503934.1:n.*2067A>G
ENST00000678626.1:n.1764A>G
ENST00000678739.1:c.*2147-53A>G	ENSP00000503806.1:n.*2147-53A>G
ENST00000678833.1:c.*1680A>G	ENSP00000503893.1:n.*1680A>G
ENST00000679023.1:c.1766A>G	ENSP00000503718.1:p.His589Arg
ENST00000679076.1:c.1547A>G
ENST00000679111.1:c.*684A>G	ENSP00000504257.1:n.*684A>G
ENST00000679189.1:c.1577A>G	ENSP00000503356.1:p.His526Arg
ENST00000341012.11:c.1766A>G	ENSP00000343034.7:p.His589Arg
ENST00000372220.4:c.791A>G	ENSP00000361294.4:p.His264Arg
ENST00000372228.7:c.1994A>G	ENSP00000361302.3:p.His665Arg
ENST00000402686.7:c.1928A>G	ENSP00000385797.3:p.His643Arg
ENST00000404875.6:c.1577A>G	ENSP00000384531.2:p.His526Arg
ENST00000423007.5:c.1928A>G	ENSP00000404119.1:p.His643Arg
ENST00000485278.5:n.2478A>G
ENST00000494883.1:n.471A>G
NM_001077365.1:c.1928A>G	NP_001070833.1:p.His643Arg
NM_001077366.1:c.1766A>G	NP_001070834.1:p.His589Arg
NM_001136113.1:c.1928A>G	NP_001129585.1:p.His643Arg
NM_001136114.1:c.1577A>G	NP_001129586.1:p.His526Arg
NM_007171.3:c.1994A>G	NP_009102.3:p.His665Arg
XM_005272156.1:c.1994A>G	XP_005272213.1:p.His665Arg
XM_005272158.1:c.1832A>G	XP_005272215.1:p.His611Arg
XM_005272159.1:c.1643A>G	XP_005272216.1:p.His548Arg
XM_005272162.1:c.797A>G	XP_005272219.1:p.His266Arg
XM_006716932.1:c.1643A>G	XP_006716995.1:p.His548Arg
XM_011518140.1:c.1847A>G	XP_011516442.1:p.His616Arg
XM_011518141.1:c.1781A>G	XP_011516443.1:p.His594Arg
XM_011518142.1:c.1685A>G	XP_011516444.1:p.His562Arg
XM_011518143.1:c.1679A>G	XP_011516445.1:p.His560Arg
XM_011518145.1:c.1538A>G	XP_011516447.1:p.His513Arg
XM_011518147.1:c.866A>G	XP_011516449.1:p.His289Arg
XR_929703.1:n.2170A>G
NM_001353193.1:c.1994A>G	NP_001340122.1:p.His665Arg
NM_001353194.1:c.1766A>G	NP_001340123.1:p.His589Arg
NM_001353195.1:c.1577A>G	NP_001340124.1:p.His526Arg
NM_001353196.1:c.1838A>G	NP_001340125.1:p.His613Arg
NM_001353197.1:c.1832A>G	NP_001340126.1:p.His611Arg
NM_001353198.1:c.1832A>G	NP_001340127.1:p.His611Arg
NM_001353199.1:c.1643A>G	NP_001340128.1:p.His548Arg
NM_001353200.1:c.1472A>G	NP_001340129.1:p.His491Arg
NR_148391.1:n.1978A>G
NR_148392.1:n.2196A>G
NR_148393.1:n.2117A>G
NR_148394.1:n.1871A>G
NR_148395.1:n.2269A>G
NR_148396.1:n.1903A>G
NR_148397.1:n.2028A>G
NR_148398.1:n.1983A>G
NR_148399.1:n.2509A>G
NR_148400.1:n.2108A>G
XM_005272162.3:c.797A>G	XP_005272219.1:p.His266Arg
XM_006716932.2:c.1643A>G	XP_006716995.1:p.His548Arg
XM_011518140.2:c.1847A>G	XP_011516442.1:p.His616Arg
XM_011518141.2:c.1781A>G	XP_011516443.1:p.His594Arg
XM_011518142.2:c.1685A>G	XP_011516444.1:p.His562Arg
XM_011518143.2:c.1679A>G	XP_011516445.1:p.His560Arg
XM_011518145.2:c.1538A>G	XP_011516447.1:p.His513Arg
XM_017014205.2:c.797A>G	XP_016869694.1:p.His266Arg
XM_024447380.1:c.797A>G	XP_024303148.1:p.His266Arg
XM_024447381.1:c.1103A>G	XP_024303149.1:p.His368Arg
XM_024447382.1:c.797A>G	XP_024303150.1:p.His266Arg
XR_001746160.2:n.2098A>G
XR_001746162.2:n.2303A>G
XR_001746164.1:n.2020A>G
XR_001746166.2:n.2315A>G
NM_001077365.2:c.1928A>G MANE Select	NP_001070833.1:p.His643Arg
NM_001077366.2:c.1766A>G	NP_001070834.1:p.His589Arg
NM_001136113.2:c.1928A>G	NP_001129585.1:p.His643Arg
NM_001136114.2:c.1577A>G	NP_001129586.1:p.His526Arg
NM_001353193.2:c.1994A>G	NP_001340122.2:p.His665Arg
NM_001353194.2:c.1766A>G	NP_001340123.1:p.His589Arg
NM_001353195.2:c.1577A>G	NP_001340124.1:p.His526Arg
NM_001353196.2:c.1838A>G	NP_001340125.1:p.His613Arg
NM_001353197.2:c.1832A>G	NP_001340126.2:p.His611Arg
NM_001353198.2:c.1832A>G	NP_001340127.2:p.His611Arg
NM_001353199.2:c.1643A>G	NP_001340128.2:p.His548Arg
NM_001353200.2:c.1472A>G	NP_001340129.1:p.His491Arg
NM_001374689.1:c.1916A>G	NP_001361618.1:p.His639Arg
NM_001374690.1:c.1709A>G	NP_001361619.1:p.His570Arg
NM_001374691.1:c.1577A>G	NP_001361620.1:p.His526Arg
NM_001374692.1:c.1577A>G	NP_001361621.1:p.His526Arg
NM_001374693.1:c.1577A>G	NP_001361622.1:p.His526Arg
NM_001374695.1:c.1538A>G	NP_001361624.1:p.His513Arg
NM_007171.4:c.1994A>G	NP_009102.4:p.His665Arg
NR_148391.2:n.1962A>G
NR_148392.2:n.2180A>G
NR_148393.2:n.2101A>G
NR_148394.2:n.1855A>G
NR_148395.2:n.2253A>G
NR_148396.2:n.1887A>G
NR_148397.2:n.2012A>G
NR_148398.2:n.1967A>G
NR_148399.2:n.2493A>G
NR_148400.2:n.2092A>G