Canonical Allele Identifier: CA375314340

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134397497T>G (hg19) ; chr9:g.131522110T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522110T>G , CM000671.2:g.131522110T>G	GRCh38
NC_000009.11:g.134397497T>G , CM000671.1:g.134397497T>G	GRCh37
NC_000009.10:g.133387318T>G	NCBI36
NG_008896.1:g.24209T>G
NG_008896.2:g.24209T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1727T>G	ENSP00000343034.7:p.Leu576Arg
ENST00000404875.7:n.2429T>G
ENST00000423007.6:c.1946T>G	ENSP00000404119.2:p.Leu649Arg
ENST00000677295.2:c.*2233T>G	ENSP00000504346.2:n.*2233T>G
ENST00000678264.2:c.*2072T>G	ENSP00000503157.2:n.*2072T>G
ENST00000682070.1:n.2291-92T>G
ENST00000682813.1:n.2293T>G
ENST00000683392.1:n.4573-92T>G
ENST00000683712.1:n.2294T>G
ENST00000683900.1:n.3789T>G
ENST00000684062.1:n.2555T>G
ENST00000684579.1:n.3735T>G
ENST00000684679.1:n.1116T>G
ENST00000341012.12:c.1727T>G	ENSP00000343034.7:p.Leu576Arg
ENST00000372220.5:c.758T>G	ENSP00000361294.5:p.Leu253Arg
ENST00000372228.9:c.1955T>G	ENSP00000361302.3:p.Leu652Arg
ENST00000402686.8:c.1889T>G MANE Select	ENSP00000385797.4:p.Leu630Arg
ENST00000676640.1:c.1889T>G	ENSP00000503281.1:p.Leu630Arg
ENST00000676803.1:c.950T>G	ENSP00000503093.1:p.Leu317Arg
ENST00000676835.1:c.*1104T>G	ENSP00000502911.1:n.*1104T>G
ENST00000677029.1:c.1433T>G	ENSP00000502936.1:p.Leu478Arg
ENST00000677099.1:c.*1599T>G	ENSP00000504553.1:n.*1599T>G
ENST00000677216.1:c.1538T>G	ENSP00000503772.1:p.Leu513Arg
ENST00000677221.1:n.914T>G
ENST00000677295.1:c.*1203-92T>G	ENSP00000504346.1:n.*1203-92T>G
ENST00000677444.1:c.1834T>G
ENST00000677586.1:n.1256T>G
ENST00000677626.1:c.1538T>G	ENSP00000503552.1:p.Leu513Arg
ENST00000677853.1:c.*897T>G	ENSP00000503488.1:n.*897T>G
ENST00000678202.1:n.1048T>G
ENST00000678264.1:c.*1266T>G	ENSP00000503157.1:n.*1266T>G
ENST00000678303.1:c.1799T>G	ENSP00000503696.1:p.Leu600Arg
ENST00000678366.1:c.*2138T>G	ENSP00000504353.1:n.*2138T>G
ENST00000678546.1:c.*1834T>G	ENSP00000503062.1:n.*1834T>G
ENST00000678548.1:c.*2028T>G	ENSP00000503934.1:n.*2028T>G
ENST00000678626.1:n.1725T>G
ENST00000678739.1:c.*2147-92T>G	ENSP00000503806.1:n.*2147-92T>G
ENST00000678833.1:c.*1641T>G	ENSP00000503893.1:n.*1641T>G
ENST00000679023.1:c.1727T>G	ENSP00000503718.1:p.Leu576Arg
ENST00000679076.1:c.1508T>G
ENST00000679111.1:c.*645T>G	ENSP00000504257.1:n.*645T>G
ENST00000679189.1:c.1538T>G	ENSP00000503356.1:p.Leu513Arg
ENST00000341012.11:c.1727T>G	ENSP00000343034.7:p.Leu576Arg
ENST00000372220.4:c.752T>G	ENSP00000361294.4:p.Leu251Arg
ENST00000372228.7:c.1955T>G	ENSP00000361302.3:p.Leu652Arg
ENST00000402686.7:c.1889T>G	ENSP00000385797.3:p.Leu630Arg
ENST00000404875.6:c.1538T>G	ENSP00000384531.2:p.Leu513Arg
ENST00000423007.5:c.1889T>G	ENSP00000404119.1:p.Leu630Arg
ENST00000485278.5:n.2439T>G
ENST00000494883.1:n.432T>G
NM_001077365.1:c.1889T>G	NP_001070833.1:p.Leu630Arg
NM_001077366.1:c.1727T>G	NP_001070834.1:p.Leu576Arg
NM_001136113.1:c.1889T>G	NP_001129585.1:p.Leu630Arg
NM_001136114.1:c.1538T>G	NP_001129586.1:p.Leu513Arg
NM_007171.3:c.1955T>G	NP_009102.3:p.Leu652Arg
XM_005272156.1:c.1955T>G	XP_005272213.1:p.Leu652Arg
XM_005272158.1:c.1793T>G	XP_005272215.1:p.Leu598Arg
XM_005272159.1:c.1604T>G	XP_005272216.1:p.Leu535Arg
XM_005272162.1:c.758T>G	XP_005272219.1:p.Leu253Arg
XM_006716932.1:c.1604T>G	XP_006716995.1:p.Leu535Arg
XM_011518140.1:c.1808T>G	XP_011516442.1:p.Leu603Arg
XM_011518141.1:c.1742T>G	XP_011516443.1:p.Leu581Arg
XM_011518142.1:c.1646T>G	XP_011516444.1:p.Leu549Arg
XM_011518143.1:c.1640T>G	XP_011516445.1:p.Leu547Arg
XM_011518145.1:c.1499T>G	XP_011516447.1:p.Leu500Arg
XM_011518147.1:c.827T>G	XP_011516449.1:p.Leu276Arg
XR_929703.1:n.2131T>G
NM_001353193.1:c.1955T>G	NP_001340122.1:p.Leu652Arg
NM_001353194.1:c.1727T>G	NP_001340123.1:p.Leu576Arg
NM_001353195.1:c.1538T>G	NP_001340124.1:p.Leu513Arg
NM_001353196.1:c.1799T>G	NP_001340125.1:p.Leu600Arg
NM_001353197.1:c.1793T>G	NP_001340126.1:p.Leu598Arg
NM_001353198.1:c.1793T>G	NP_001340127.1:p.Leu598Arg
NM_001353199.1:c.1604T>G	NP_001340128.1:p.Leu535Arg
NM_001353200.1:c.1433T>G	NP_001340129.1:p.Leu478Arg
NR_148391.1:n.1939T>G
NR_148392.1:n.2157T>G
NR_148393.1:n.2078T>G
NR_148394.1:n.1832T>G
NR_148395.1:n.2230T>G
NR_148396.1:n.1864T>G
NR_148397.1:n.1989T>G
NR_148398.1:n.1944T>G
NR_148399.1:n.2470T>G
NR_148400.1:n.2069T>G
XM_005272162.3:c.758T>G	XP_005272219.1:p.Leu253Arg
XM_006716932.2:c.1604T>G	XP_006716995.1:p.Leu535Arg
XM_011518140.2:c.1808T>G	XP_011516442.1:p.Leu603Arg
XM_011518141.2:c.1742T>G	XP_011516443.1:p.Leu581Arg
XM_011518142.2:c.1646T>G	XP_011516444.1:p.Leu549Arg
XM_011518143.2:c.1640T>G	XP_011516445.1:p.Leu547Arg
XM_011518145.2:c.1499T>G	XP_011516447.1:p.Leu500Arg
XM_017014205.2:c.758T>G	XP_016869694.1:p.Leu253Arg
XM_024447380.1:c.758T>G	XP_024303148.1:p.Leu253Arg
XM_024447381.1:c.1064T>G	XP_024303149.1:p.Leu355Arg
XM_024447382.1:c.758T>G	XP_024303150.1:p.Leu253Arg
XR_001746160.2:n.2059T>G
XR_001746162.2:n.2264T>G
XR_001746164.1:n.1981T>G
XR_001746166.2:n.2276T>G
NM_001077365.2:c.1889T>G MANE Select	NP_001070833.1:p.Leu630Arg
NM_001077366.2:c.1727T>G	NP_001070834.1:p.Leu576Arg
NM_001136113.2:c.1889T>G	NP_001129585.1:p.Leu630Arg
NM_001136114.2:c.1538T>G	NP_001129586.1:p.Leu513Arg
NM_001353193.2:c.1955T>G	NP_001340122.2:p.Leu652Arg
NM_001353194.2:c.1727T>G	NP_001340123.1:p.Leu576Arg
NM_001353195.2:c.1538T>G	NP_001340124.1:p.Leu513Arg
NM_001353196.2:c.1799T>G	NP_001340125.1:p.Leu600Arg
NM_001353197.2:c.1793T>G	NP_001340126.2:p.Leu598Arg
NM_001353198.2:c.1793T>G	NP_001340127.2:p.Leu598Arg
NM_001353199.2:c.1604T>G	NP_001340128.2:p.Leu535Arg
NM_001353200.2:c.1433T>G	NP_001340129.1:p.Leu478Arg
NM_001374689.1:c.1877T>G	NP_001361618.1:p.Leu626Arg
NM_001374690.1:c.1670T>G	NP_001361619.1:p.Leu557Arg
NM_001374691.1:c.1538T>G	NP_001361620.1:p.Leu513Arg
NM_001374692.1:c.1538T>G	NP_001361621.1:p.Leu513Arg
NM_001374693.1:c.1538T>G	NP_001361622.1:p.Leu513Arg
NM_001374695.1:c.1499T>G	NP_001361624.1:p.Leu500Arg
NM_007171.4:c.1955T>G	NP_009102.4:p.Leu652Arg
NR_148391.2:n.1923T>G
NR_148392.2:n.2141T>G
NR_148393.2:n.2062T>G
NR_148394.2:n.1816T>G
NR_148395.2:n.2214T>G
NR_148396.2:n.1848T>G
NR_148397.2:n.1973T>G
NR_148398.2:n.1928T>G
NR_148399.2:n.2454T>G
NR_148400.2:n.2053T>G