Canonical Allele Identifier: CA375313603

Gene: POMT1

Linked Data

• gnomAD v4: 9-131521356-A-T
• MyVariant Identifiers: chr9:g.134396743A>T (hg19) ; chr9:g.131521356A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131521356A>T , CM000671.2:g.131521356A>T	GRCh38
NC_000009.11:g.134396743A>T , CM000671.1:g.134396743A>T	GRCh37
NC_000009.10:g.133386564A>T	NCBI36
NG_008896.1:g.23455A>T
NG_008896.2:g.23455A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1547A>T	ENSP00000343034.7:p.His516Leu
ENST00000404875.7:n.2249A>T
ENST00000423007.6:c.1766A>T	ENSP00000404119.2:p.His589Leu
ENST00000677295.2:c.*2053A>T	ENSP00000504346.2:n.*2053A>T
ENST00000678264.2:c.*1892A>T	ENSP00000503157.2:n.*1892A>T
ENST00000682070.1:n.2174A>T
ENST00000682813.1:n.2113A>T
ENST00000683392.1:n.4456A>T
ENST00000683712.1:n.2114A>T
ENST00000683900.1:n.3609A>T
ENST00000684062.1:n.2375A>T
ENST00000684579.1:n.3555A>T
ENST00000684679.1:n.936A>T
ENST00000341012.12:c.1547A>T	ENSP00000343034.7:p.His516Leu
ENST00000372220.5:c.578A>T	ENSP00000361294.5:p.His193Leu
ENST00000372228.9:c.1775A>T	ENSP00000361302.3:p.His592Leu
ENST00000402686.8:c.1709A>T MANE Select	ENSP00000385797.4:p.His570Leu
ENST00000676640.1:c.1709A>T	ENSP00000503281.1:p.His570Leu
ENST00000676803.1:c.770A>T	ENSP00000503093.1:p.His257Leu
ENST00000676835.1:c.*924A>T	ENSP00000502911.1:n.*924A>T
ENST00000677029.1:c.1253A>T	ENSP00000502936.1:p.His418Leu
ENST00000677099.1:c.*1419A>T	ENSP00000504553.1:n.*1419A>T
ENST00000677216.1:c.1358A>T	ENSP00000503772.1:p.His453Leu
ENST00000677221.1:n.734A>T
ENST00000677295.1:c.*1086A>T	ENSP00000504346.1:n.*1086A>T
ENST00000677444.1:c.1654A>T
ENST00000677586.1:n.1076A>T
ENST00000677626.1:c.1358A>T	ENSP00000503552.1:p.His453Leu
ENST00000677853.1:c.*717A>T	ENSP00000503488.1:n.*717A>T
ENST00000678202.1:n.868A>T
ENST00000678264.1:c.*1086A>T	ENSP00000503157.1:n.*1086A>T
ENST00000678303.1:c.1619A>T	ENSP00000503696.1:p.His540Leu
ENST00000678366.1:c.*1958A>T	ENSP00000504353.1:n.*1958A>T
ENST00000678546.1:c.*1654A>T	ENSP00000503062.1:n.*1654A>T
ENST00000678548.1:c.*1781A>T	ENSP00000503934.1:n.*1781A>T
ENST00000678626.1:n.1545A>T
ENST00000678739.1:c.*2030A>T	ENSP00000503806.1:n.*2030A>T
ENST00000678833.1:c.*1461A>T	ENSP00000503893.1:n.*1461A>T
ENST00000679023.1:c.1547A>T	ENSP00000503718.1:p.His516Leu
ENST00000679076.1:c.1328A>T
ENST00000679111.1:c.*465A>T	ENSP00000504257.1:n.*465A>T
ENST00000679189.1:c.1358A>T	ENSP00000503356.1:p.His453Leu
ENST00000341012.11:c.1547A>T	ENSP00000343034.7:p.His516Leu
ENST00000372220.4:c.572A>T	ENSP00000361294.4:p.His191Leu
ENST00000372228.7:c.1775A>T	ENSP00000361302.3:p.His592Leu
ENST00000402686.7:c.1709A>T	ENSP00000385797.3:p.His570Leu
ENST00000404875.6:c.1358A>T	ENSP00000384531.2:p.His453Leu
ENST00000423007.5:c.1709A>T	ENSP00000404119.1:p.His570Leu
ENST00000467848.1:n.413A>T
ENST00000485278.5:n.2259A>T
ENST00000494883.1:n.252A>T
NM_001077365.1:c.1709A>T	NP_001070833.1:p.His570Leu
NM_001077366.1:c.1547A>T	NP_001070834.1:p.His516Leu
NM_001136113.1:c.1709A>T	NP_001129585.1:p.His570Leu
NM_001136114.1:c.1358A>T	NP_001129586.1:p.His453Leu
NM_007171.3:c.1775A>T	NP_009102.3:p.His592Leu
XM_005272156.1:c.1775A>T	XP_005272213.1:p.His592Leu
XM_005272158.1:c.1613A>T	XP_005272215.1:p.His538Leu
XM_005272159.1:c.1424A>T	XP_005272216.1:p.His475Leu
XM_005272162.1:c.578A>T	XP_005272219.1:p.His193Leu
XM_006716932.1:c.1424A>T	XP_006716995.1:p.His475Leu
XM_011518140.1:c.1628A>T	XP_011516442.1:p.His543Leu
XM_011518141.1:c.1562A>T	XP_011516443.1:p.His521Leu
XM_011518142.1:c.1466A>T	XP_011516444.1:p.His489Leu
XM_011518143.1:c.1460A>T	XP_011516445.1:p.His487Leu
XM_011518145.1:c.1319A>T	XP_011516447.1:p.His440Leu
XM_011518147.1:c.647A>T	XP_011516449.1:p.His216Leu
XR_929703.1:n.1951A>T
NM_001353193.1:c.1775A>T	NP_001340122.1:p.His592Leu
NM_001353194.1:c.1547A>T	NP_001340123.1:p.His516Leu
NM_001353195.1:c.1358A>T	NP_001340124.1:p.His453Leu
NM_001353196.1:c.1619A>T	NP_001340125.1:p.His540Leu
NM_001353197.1:c.1613A>T	NP_001340126.1:p.His538Leu
NM_001353198.1:c.1613A>T	NP_001340127.1:p.His538Leu
NM_001353199.1:c.1424A>T	NP_001340128.1:p.His475Leu
NM_001353200.1:c.1253A>T	NP_001340129.1:p.His418Leu
NR_148391.1:n.1759A>T
NR_148392.1:n.1977A>T
NR_148393.1:n.1898A>T
NR_148394.1:n.1652A>T
NR_148395.1:n.2050A>T
NR_148396.1:n.1684A>T
NR_148397.1:n.1809A>T
NR_148398.1:n.1764A>T
NR_148399.1:n.2290A>T
NR_148400.1:n.1889A>T
XM_005272162.3:c.578A>T	XP_005272219.1:p.His193Leu
XM_006716932.2:c.1424A>T	XP_006716995.1:p.His475Leu
XM_011518140.2:c.1628A>T	XP_011516442.1:p.His543Leu
XM_011518141.2:c.1562A>T	XP_011516443.1:p.His521Leu
XM_011518142.2:c.1466A>T	XP_011516444.1:p.His489Leu
XM_011518143.2:c.1460A>T	XP_011516445.1:p.His487Leu
XM_011518145.2:c.1319A>T	XP_011516447.1:p.His440Leu
XM_017014205.2:c.578A>T	XP_016869694.1:p.His193Leu
XM_024447380.1:c.578A>T	XP_024303148.1:p.His193Leu
XM_024447381.1:c.884A>T	XP_024303149.1:p.His295Leu
XM_024447382.1:c.578A>T	XP_024303150.1:p.His193Leu
XR_001746160.2:n.1879A>T
XR_001746162.2:n.2084A>T
XR_001746164.1:n.1801A>T
XR_001746166.2:n.2096A>T
NM_001077365.2:c.1709A>T MANE Select	NP_001070833.1:p.His570Leu
NM_001077366.2:c.1547A>T	NP_001070834.1:p.His516Leu
NM_001136113.2:c.1709A>T	NP_001129585.1:p.His570Leu
NM_001136114.2:c.1358A>T	NP_001129586.1:p.His453Leu
NM_001353193.2:c.1775A>T	NP_001340122.2:p.His592Leu
NM_001353194.2:c.1547A>T	NP_001340123.1:p.His516Leu
NM_001353195.2:c.1358A>T	NP_001340124.1:p.His453Leu
NM_001353196.2:c.1619A>T	NP_001340125.1:p.His540Leu
NM_001353197.2:c.1613A>T	NP_001340126.2:p.His538Leu
NM_001353198.2:c.1613A>T	NP_001340127.2:p.His538Leu
NM_001353199.2:c.1424A>T	NP_001340128.2:p.His475Leu
NM_001353200.2:c.1253A>T	NP_001340129.1:p.His418Leu
NM_001374689.1:c.1697A>T	NP_001361618.1:p.His566Leu
NM_001374690.1:c.1490A>T	NP_001361619.1:p.His497Leu
NM_001374691.1:c.1358A>T	NP_001361620.1:p.His453Leu
NM_001374692.1:c.1358A>T	NP_001361621.1:p.His453Leu
NM_001374693.1:c.1358A>T	NP_001361622.1:p.His453Leu
NM_001374695.1:c.1319A>T	NP_001361624.1:p.His440Leu
NM_007171.4:c.1775A>T	NP_009102.4:p.His592Leu
NR_148391.2:n.1743A>T
NR_148392.2:n.1961A>T
NR_148393.2:n.1882A>T
NR_148394.2:n.1636A>T
NR_148395.2:n.2034A>T
NR_148396.2:n.1668A>T
NR_148397.2:n.1793A>T
NR_148398.2:n.1748A>T
NR_148399.2:n.2274A>T
NR_148400.2:n.1873A>T