Canonical Allele Identifier: CA375314697

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134397590A>T (hg19) ; chr9:g.131522203A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522203A>T , CM000671.2:g.131522203A>T	GRCh38
NC_000009.11:g.134397590A>T , CM000671.1:g.134397590A>T	GRCh37
NC_000009.10:g.133387411A>T	NCBI36
NG_008896.1:g.24302A>T
NG_008896.2:g.24302A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1820A>T	ENSP00000343034.7:p.His607Leu
ENST00000404875.7:n.2522A>T
ENST00000423007.6:c.2039A>T	ENSP00000404119.2:p.His680Leu
ENST00000677295.2:c.*2326A>T	ENSP00000504346.2:n.*2326A>T
ENST00000678264.2:c.*2165A>T	ENSP00000503157.2:n.*2165A>T
ENST00000682070.1:n.2292A>T
ENST00000682813.1:n.2386A>T
ENST00000683392.1:n.4574A>T
ENST00000683712.1:n.2387A>T
ENST00000683900.1:n.3882A>T
ENST00000684062.1:n.2648A>T
ENST00000684579.1:n.3828A>T
ENST00000341012.12:c.1820A>T	ENSP00000343034.7:p.His607Leu
ENST00000372220.5:c.851A>T	ENSP00000361294.5:p.His284Leu
ENST00000372228.9:c.2048A>T	ENSP00000361302.3:p.His683Leu
ENST00000402686.8:c.1982A>T MANE Select	ENSP00000385797.4:p.His661Leu
ENST00000676640.1:c.1982A>T	ENSP00000503281.1:p.His661Leu
ENST00000676803.1:c.1043A>T	ENSP00000503093.1:p.His348Leu
ENST00000676835.1:c.*1197A>T	ENSP00000502911.1:n.*1197A>T
ENST00000677029.1:c.1526A>T	ENSP00000502936.1:p.His509Leu
ENST00000677099.1:c.*1692A>T	ENSP00000504553.1:n.*1692A>T
ENST00000677216.1:c.1631A>T	ENSP00000503772.1:p.His544Leu
ENST00000677221.1:n.1007A>T
ENST00000677295.1:c.*1204A>T	ENSP00000504346.1:n.*1204A>T
ENST00000677444.1:c.1927A>T
ENST00000677586.1:n.1349A>T
ENST00000677626.1:c.1631A>T	ENSP00000503552.1:p.His544Leu
ENST00000677853.1:c.*990A>T	ENSP00000503488.1:n.*990A>T
ENST00000678264.1:c.*1359A>T	ENSP00000503157.1:n.*1359A>T
ENST00000678303.1:c.1892A>T	ENSP00000503696.1:p.His631Leu
ENST00000678366.1:c.*2231A>T	ENSP00000504353.1:n.*2231A>T
ENST00000678546.1:c.*1927A>T	ENSP00000503062.1:n.*1927A>T
ENST00000678548.1:c.*2121A>T	ENSP00000503934.1:n.*2121A>T
ENST00000678626.1:n.1818A>T
ENST00000678739.1:c.*2148A>T	ENSP00000503806.1:n.*2148A>T
ENST00000678833.1:c.*1734A>T	ENSP00000503893.1:n.*1734A>T
ENST00000679023.1:c.1820A>T	ENSP00000503718.1:p.His607Leu
ENST00000679076.1:c.1601A>T
ENST00000679111.1:c.*738A>T	ENSP00000504257.1:n.*738A>T
ENST00000679189.1:c.1631A>T	ENSP00000503356.1:p.His544Leu
ENST00000341012.11:c.1820A>T	ENSP00000343034.7:p.His607Leu
ENST00000372220.4:c.845A>T	ENSP00000361294.4:p.His282Leu
ENST00000372228.7:c.2048A>T	ENSP00000361302.3:p.His683Leu
ENST00000402686.7:c.1982A>T	ENSP00000385797.3:p.His661Leu
ENST00000404875.6:c.1631A>T	ENSP00000384531.2:p.His544Leu
ENST00000423007.5:c.1982A>T	ENSP00000404119.1:p.His661Leu
ENST00000485278.5:n.2532A>T
ENST00000494883.1:n.525A>T
NM_001077365.1:c.1982A>T	NP_001070833.1:p.His661Leu
NM_001077366.1:c.1820A>T	NP_001070834.1:p.His607Leu
NM_001136113.1:c.1982A>T	NP_001129585.1:p.His661Leu
NM_001136114.1:c.1631A>T	NP_001129586.1:p.His544Leu
NM_007171.3:c.2048A>T	NP_009102.3:p.His683Leu
XM_005272156.1:c.2048A>T	XP_005272213.1:p.His683Leu
XM_005272158.1:c.1886A>T	XP_005272215.1:p.His629Leu
XM_005272159.1:c.1697A>T	XP_005272216.1:p.His566Leu
XM_005272162.1:c.851A>T	XP_005272219.1:p.His284Leu
XM_006716932.1:c.1697A>T	XP_006716995.1:p.His566Leu
XM_011518140.1:c.1901A>T	XP_011516442.1:p.His634Leu
XM_011518141.1:c.1835A>T	XP_011516443.1:p.His612Leu
XM_011518142.1:c.1739A>T	XP_011516444.1:p.His580Leu
XM_011518143.1:c.1733A>T	XP_011516445.1:p.His578Leu
XM_011518145.1:c.1592A>T	XP_011516447.1:p.His531Leu
XM_011518147.1:c.920A>T	XP_011516449.1:p.His307Leu
XR_929703.1:n.2224A>T
NM_001353193.1:c.2048A>T	NP_001340122.1:p.His683Leu
NM_001353194.1:c.1820A>T	NP_001340123.1:p.His607Leu
NM_001353195.1:c.1631A>T	NP_001340124.1:p.His544Leu
NM_001353196.1:c.1892A>T	NP_001340125.1:p.His631Leu
NM_001353197.1:c.1886A>T	NP_001340126.1:p.His629Leu
NM_001353198.1:c.1886A>T	NP_001340127.1:p.His629Leu
NM_001353199.1:c.1697A>T	NP_001340128.1:p.His566Leu
NM_001353200.1:c.1526A>T	NP_001340129.1:p.His509Leu
NR_148391.1:n.2032A>T
NR_148392.1:n.2250A>T
NR_148393.1:n.2171A>T
NR_148394.1:n.1925A>T
NR_148395.1:n.2323A>T
NR_148396.1:n.1957A>T
NR_148397.1:n.2082A>T
NR_148398.1:n.2037A>T
NR_148399.1:n.2563A>T
NR_148400.1:n.2162A>T
XM_005272162.3:c.851A>T	XP_005272219.1:p.His284Leu
XM_006716932.2:c.1697A>T	XP_006716995.1:p.His566Leu
XM_011518140.2:c.1901A>T	XP_011516442.1:p.His634Leu
XM_011518141.2:c.1835A>T	XP_011516443.1:p.His612Leu
XM_011518142.2:c.1739A>T	XP_011516444.1:p.His580Leu
XM_011518143.2:c.1733A>T	XP_011516445.1:p.His578Leu
XM_011518145.2:c.1592A>T	XP_011516447.1:p.His531Leu
XM_017014205.2:c.851A>T	XP_016869694.1:p.His284Leu
XM_024447380.1:c.851A>T	XP_024303148.1:p.His284Leu
XM_024447381.1:c.1157A>T	XP_024303149.1:p.His386Leu
XM_024447382.1:c.851A>T	XP_024303150.1:p.His284Leu
XR_001746160.2:n.2152A>T
XR_001746162.2:n.2357A>T
XR_001746164.1:n.2074A>T
XR_001746166.2:n.2369A>T
NM_001077365.2:c.1982A>T MANE Select	NP_001070833.1:p.His661Leu
NM_001077366.2:c.1820A>T	NP_001070834.1:p.His607Leu
NM_001136113.2:c.1982A>T	NP_001129585.1:p.His661Leu
NM_001136114.2:c.1631A>T	NP_001129586.1:p.His544Leu
NM_001353193.2:c.2048A>T	NP_001340122.2:p.His683Leu
NM_001353194.2:c.1820A>T	NP_001340123.1:p.His607Leu
NM_001353195.2:c.1631A>T	NP_001340124.1:p.His544Leu
NM_001353196.2:c.1892A>T	NP_001340125.1:p.His631Leu
NM_001353197.2:c.1886A>T	NP_001340126.2:p.His629Leu
NM_001353198.2:c.1886A>T	NP_001340127.2:p.His629Leu
NM_001353199.2:c.1697A>T	NP_001340128.2:p.His566Leu
NM_001353200.2:c.1526A>T	NP_001340129.1:p.His509Leu
NM_001374689.1:c.1970A>T	NP_001361618.1:p.His657Leu
NM_001374690.1:c.1763A>T	NP_001361619.1:p.His588Leu
NM_001374691.1:c.1631A>T	NP_001361620.1:p.His544Leu
NM_001374692.1:c.1631A>T	NP_001361621.1:p.His544Leu
NM_001374693.1:c.1631A>T	NP_001361622.1:p.His544Leu
NM_001374695.1:c.1592A>T	NP_001361624.1:p.His531Leu
NM_007171.4:c.2048A>T	NP_009102.4:p.His683Leu
NR_148391.2:n.2016A>T
NR_148392.2:n.2234A>T
NR_148393.2:n.2155A>T
NR_148394.2:n.1909A>T
NR_148395.2:n.2307A>T
NR_148396.2:n.1941A>T
NR_148397.2:n.2066A>T
NR_148398.2:n.2021A>T
NR_148399.2:n.2547A>T
NR_148400.2:n.2146A>T