Canonical Allele Identifier: CA375314544

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134397551T>A (hg19) ; chr9:g.131522164T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522164T>A , CM000671.2:g.131522164T>A	GRCh38
NC_000009.11:g.134397551T>A , CM000671.1:g.134397551T>A	GRCh37
NC_000009.10:g.133387372T>A	NCBI36
NG_008896.1:g.24263T>A
NG_008896.2:g.24263T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1781T>A	ENSP00000343034.7:p.Leu594His
ENST00000404875.7:n.2483T>A
ENST00000423007.6:c.2000T>A	ENSP00000404119.2:p.Leu667His
ENST00000677295.2:c.*2287T>A	ENSP00000504346.2:n.*2287T>A
ENST00000678264.2:c.*2126T>A	ENSP00000503157.2:n.*2126T>A
ENST00000682070.1:n.2291-38T>A
ENST00000682813.1:n.2347T>A
ENST00000683392.1:n.4573-38T>A
ENST00000683712.1:n.2348T>A
ENST00000683900.1:n.3843T>A
ENST00000684062.1:n.2609T>A
ENST00000684579.1:n.3789T>A
ENST00000684679.1:n.1170T>A
ENST00000341012.12:c.1781T>A	ENSP00000343034.7:p.Leu594His
ENST00000372220.5:c.812T>A	ENSP00000361294.5:p.Leu271His
ENST00000372228.9:c.2009T>A	ENSP00000361302.3:p.Leu670His
ENST00000402686.8:c.1943T>A MANE Select	ENSP00000385797.4:p.Leu648His
ENST00000676640.1:c.1943T>A	ENSP00000503281.1:p.Leu648His
ENST00000676803.1:c.1004T>A	ENSP00000503093.1:p.Leu335His
ENST00000676835.1:c.*1158T>A	ENSP00000502911.1:n.*1158T>A
ENST00000677029.1:c.1487T>A	ENSP00000502936.1:p.Leu496His
ENST00000677099.1:c.*1653T>A	ENSP00000504553.1:n.*1653T>A
ENST00000677216.1:c.1592T>A	ENSP00000503772.1:p.Leu531His
ENST00000677221.1:n.968T>A
ENST00000677295.1:c.*1203-38T>A	ENSP00000504346.1:n.*1203-38T>A
ENST00000677444.1:c.1888T>A
ENST00000677586.1:n.1310T>A
ENST00000677626.1:c.1592T>A	ENSP00000503552.1:p.Leu531His
ENST00000677853.1:c.*951T>A	ENSP00000503488.1:n.*951T>A
ENST00000678202.1:n.1102T>A
ENST00000678264.1:c.*1320T>A	ENSP00000503157.1:n.*1320T>A
ENST00000678303.1:c.1853T>A	ENSP00000503696.1:p.Leu618His
ENST00000678366.1:c.*2192T>A	ENSP00000504353.1:n.*2192T>A
ENST00000678546.1:c.*1888T>A	ENSP00000503062.1:n.*1888T>A
ENST00000678548.1:c.*2082T>A	ENSP00000503934.1:n.*2082T>A
ENST00000678626.1:n.1779T>A
ENST00000678739.1:c.*2147-38T>A	ENSP00000503806.1:n.*2147-38T>A
ENST00000678833.1:c.*1695T>A	ENSP00000503893.1:n.*1695T>A
ENST00000679023.1:c.1781T>A	ENSP00000503718.1:p.Leu594His
ENST00000679076.1:c.1562T>A
ENST00000679111.1:c.*699T>A	ENSP00000504257.1:n.*699T>A
ENST00000679189.1:c.1592T>A	ENSP00000503356.1:p.Leu531His
ENST00000341012.11:c.1781T>A	ENSP00000343034.7:p.Leu594His
ENST00000372220.4:c.806T>A	ENSP00000361294.4:p.Leu269His
ENST00000372228.7:c.2009T>A	ENSP00000361302.3:p.Leu670His
ENST00000402686.7:c.1943T>A	ENSP00000385797.3:p.Leu648His
ENST00000404875.6:c.1592T>A	ENSP00000384531.2:p.Leu531His
ENST00000423007.5:c.1943T>A	ENSP00000404119.1:p.Leu648His
ENST00000485278.5:n.2493T>A
ENST00000494883.1:n.486T>A
NM_001077365.1:c.1943T>A	NP_001070833.1:p.Leu648His
NM_001077366.1:c.1781T>A	NP_001070834.1:p.Leu594His
NM_001136113.1:c.1943T>A	NP_001129585.1:p.Leu648His
NM_001136114.1:c.1592T>A	NP_001129586.1:p.Leu531His
NM_007171.3:c.2009T>A	NP_009102.3:p.Leu670His
XM_005272156.1:c.2009T>A	XP_005272213.1:p.Leu670His
XM_005272158.1:c.1847T>A	XP_005272215.1:p.Leu616His
XM_005272159.1:c.1658T>A	XP_005272216.1:p.Leu553His
XM_005272162.1:c.812T>A	XP_005272219.1:p.Leu271His
XM_006716932.1:c.1658T>A	XP_006716995.1:p.Leu553His
XM_011518140.1:c.1862T>A	XP_011516442.1:p.Leu621His
XM_011518141.1:c.1796T>A	XP_011516443.1:p.Leu599His
XM_011518142.1:c.1700T>A	XP_011516444.1:p.Leu567His
XM_011518143.1:c.1694T>A	XP_011516445.1:p.Leu565His
XM_011518145.1:c.1553T>A	XP_011516447.1:p.Leu518His
XM_011518147.1:c.881T>A	XP_011516449.1:p.Leu294His
XR_929703.1:n.2185T>A
NM_001353193.1:c.2009T>A	NP_001340122.1:p.Leu670His
NM_001353194.1:c.1781T>A	NP_001340123.1:p.Leu594His
NM_001353195.1:c.1592T>A	NP_001340124.1:p.Leu531His
NM_001353196.1:c.1853T>A	NP_001340125.1:p.Leu618His
NM_001353197.1:c.1847T>A	NP_001340126.1:p.Leu616His
NM_001353198.1:c.1847T>A	NP_001340127.1:p.Leu616His
NM_001353199.1:c.1658T>A	NP_001340128.1:p.Leu553His
NM_001353200.1:c.1487T>A	NP_001340129.1:p.Leu496His
NR_148391.1:n.1993T>A
NR_148392.1:n.2211T>A
NR_148393.1:n.2132T>A
NR_148394.1:n.1886T>A
NR_148395.1:n.2284T>A
NR_148396.1:n.1918T>A
NR_148397.1:n.2043T>A
NR_148398.1:n.1998T>A
NR_148399.1:n.2524T>A
NR_148400.1:n.2123T>A
XM_005272162.3:c.812T>A	XP_005272219.1:p.Leu271His
XM_006716932.2:c.1658T>A	XP_006716995.1:p.Leu553His
XM_011518140.2:c.1862T>A	XP_011516442.1:p.Leu621His
XM_011518141.2:c.1796T>A	XP_011516443.1:p.Leu599His
XM_011518142.2:c.1700T>A	XP_011516444.1:p.Leu567His
XM_011518143.2:c.1694T>A	XP_011516445.1:p.Leu565His
XM_011518145.2:c.1553T>A	XP_011516447.1:p.Leu518His
XM_017014205.2:c.812T>A	XP_016869694.1:p.Leu271His
XM_024447380.1:c.812T>A	XP_024303148.1:p.Leu271His
XM_024447381.1:c.1118T>A	XP_024303149.1:p.Leu373His
XM_024447382.1:c.812T>A	XP_024303150.1:p.Leu271His
XR_001746160.2:n.2113T>A
XR_001746162.2:n.2318T>A
XR_001746164.1:n.2035T>A
XR_001746166.2:n.2330T>A
NM_001077365.2:c.1943T>A MANE Select	NP_001070833.1:p.Leu648His
NM_001077366.2:c.1781T>A	NP_001070834.1:p.Leu594His
NM_001136113.2:c.1943T>A	NP_001129585.1:p.Leu648His
NM_001136114.2:c.1592T>A	NP_001129586.1:p.Leu531His
NM_001353193.2:c.2009T>A	NP_001340122.2:p.Leu670His
NM_001353194.2:c.1781T>A	NP_001340123.1:p.Leu594His
NM_001353195.2:c.1592T>A	NP_001340124.1:p.Leu531His
NM_001353196.2:c.1853T>A	NP_001340125.1:p.Leu618His
NM_001353197.2:c.1847T>A	NP_001340126.2:p.Leu616His
NM_001353198.2:c.1847T>A	NP_001340127.2:p.Leu616His
NM_001353199.2:c.1658T>A	NP_001340128.2:p.Leu553His
NM_001353200.2:c.1487T>A	NP_001340129.1:p.Leu496His
NM_001374689.1:c.1931T>A	NP_001361618.1:p.Leu644His
NM_001374690.1:c.1724T>A	NP_001361619.1:p.Leu575His
NM_001374691.1:c.1592T>A	NP_001361620.1:p.Leu531His
NM_001374692.1:c.1592T>A	NP_001361621.1:p.Leu531His
NM_001374693.1:c.1592T>A	NP_001361622.1:p.Leu531His
NM_001374695.1:c.1553T>A	NP_001361624.1:p.Leu518His
NM_007171.4:c.2009T>A	NP_009102.4:p.Leu670His
NR_148391.2:n.1977T>A
NR_148392.2:n.2195T>A
NR_148393.2:n.2116T>A
NR_148394.2:n.1870T>A
NR_148395.2:n.2268T>A
NR_148396.2:n.1902T>A
NR_148397.2:n.2027T>A
NR_148398.2:n.1982T>A
NR_148399.2:n.2508T>A
NR_148400.2:n.2107T>A