Canonical Allele Identifier: CA375313966

Gene: POMT1

Linked Data

• gnomAD v4: 9-131521454-G-A
• MyVariant Identifiers: chr9:g.134396841G>A (hg19) ; chr9:g.131521454G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131521454G>A , CM000671.2:g.131521454G>A	GRCh38
NC_000009.11:g.134396841G>A , CM000671.1:g.134396841G>A	GRCh37
NC_000009.10:g.133386662G>A	NCBI36
NG_008896.1:g.23553G>A
NG_008896.2:g.23553G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1645G>A	ENSP00000343034.7:p.Val549Ile
ENST00000404875.7:n.2347G>A
ENST00000423007.6:c.1864G>A	ENSP00000404119.2:p.Val622Ile
ENST00000677295.2:c.*2151G>A	ENSP00000504346.2:n.*2151G>A
ENST00000678264.2:c.*1990G>A	ENSP00000503157.2:n.*1990G>A
ENST00000682070.1:n.2272G>A
ENST00000682813.1:n.2211G>A
ENST00000683392.1:n.4554G>A
ENST00000683712.1:n.2212G>A
ENST00000683900.1:n.3707G>A
ENST00000684062.1:n.2473G>A
ENST00000684579.1:n.3653G>A
ENST00000684679.1:n.1034G>A
ENST00000341012.12:c.1645G>A	ENSP00000343034.7:p.Val549Ile
ENST00000372220.5:c.676G>A	ENSP00000361294.5:p.Val226Ile
ENST00000372228.9:c.1873G>A	ENSP00000361302.3:p.Val625Ile
ENST00000402686.8:c.1807G>A MANE Select	ENSP00000385797.4:p.Val603Ile
ENST00000676640.1:c.1807G>A	ENSP00000503281.1:p.Val603Ile
ENST00000676803.1:c.868G>A	ENSP00000503093.1:p.Val290Ile
ENST00000676835.1:c.*1022G>A	ENSP00000502911.1:n.*1022G>A
ENST00000677029.1:c.1351G>A	ENSP00000502936.1:p.Val451Ile
ENST00000677099.1:c.*1517G>A	ENSP00000504553.1:n.*1517G>A
ENST00000677216.1:c.1456G>A	ENSP00000503772.1:p.Val486Ile
ENST00000677221.1:n.832G>A
ENST00000677295.1:c.*1184G>A	ENSP00000504346.1:n.*1184G>A
ENST00000677444.1:c.1752G>A
ENST00000677586.1:n.1174G>A
ENST00000677626.1:c.1456G>A	ENSP00000503552.1:p.Val486Ile
ENST00000677853.1:c.*815G>A	ENSP00000503488.1:n.*815G>A
ENST00000678202.1:n.966G>A
ENST00000678264.1:c.*1184G>A	ENSP00000503157.1:n.*1184G>A
ENST00000678303.1:c.1717G>A	ENSP00000503696.1:p.Val573Ile
ENST00000678366.1:c.*2056G>A	ENSP00000504353.1:n.*2056G>A
ENST00000678546.1:c.*1752G>A	ENSP00000503062.1:n.*1752G>A
ENST00000678548.1:c.*1879G>A	ENSP00000503934.1:n.*1879G>A
ENST00000678626.1:n.1643G>A
ENST00000678739.1:c.*2128G>A	ENSP00000503806.1:n.*2128G>A
ENST00000678833.1:c.*1559G>A	ENSP00000503893.1:n.*1559G>A
ENST00000679023.1:c.1645G>A	ENSP00000503718.1:p.Val549Ile
ENST00000679076.1:c.1426G>A
ENST00000679111.1:c.*563G>A	ENSP00000504257.1:n.*563G>A
ENST00000679189.1:c.1456G>A	ENSP00000503356.1:p.Val486Ile
ENST00000341012.11:c.1645G>A	ENSP00000343034.7:p.Val549Ile
ENST00000372220.4:c.670G>A	ENSP00000361294.4:p.Val224Ile
ENST00000372228.7:c.1873G>A	ENSP00000361302.3:p.Val625Ile
ENST00000402686.7:c.1807G>A	ENSP00000385797.3:p.Val603Ile
ENST00000404875.6:c.1456G>A	ENSP00000384531.2:p.Val486Ile
ENST00000423007.5:c.1807G>A	ENSP00000404119.1:p.Val603Ile
ENST00000485278.5:n.2357G>A
ENST00000494883.1:n.350G>A
NM_001077365.1:c.1807G>A	NP_001070833.1:p.Val603Ile
NM_001077366.1:c.1645G>A	NP_001070834.1:p.Val549Ile
NM_001136113.1:c.1807G>A	NP_001129585.1:p.Val603Ile
NM_001136114.1:c.1456G>A	NP_001129586.1:p.Val486Ile
NM_007171.3:c.1873G>A	NP_009102.3:p.Val625Ile
XM_005272156.1:c.1873G>A	XP_005272213.1:p.Val625Ile
XM_005272158.1:c.1711G>A	XP_005272215.1:p.Val571Ile
XM_005272159.1:c.1522G>A	XP_005272216.1:p.Val508Ile
XM_005272162.1:c.676G>A	XP_005272219.1:p.Val226Ile
XM_006716932.1:c.1522G>A	XP_006716995.1:p.Val508Ile
XM_011518140.1:c.1726G>A	XP_011516442.1:p.Val576Ile
XM_011518141.1:c.1660G>A	XP_011516443.1:p.Val554Ile
XM_011518142.1:c.1564G>A	XP_011516444.1:p.Val522Ile
XM_011518143.1:c.1558G>A	XP_011516445.1:p.Val520Ile
XM_011518145.1:c.1417G>A	XP_011516447.1:p.Val473Ile
XM_011518147.1:c.745G>A	XP_011516449.1:p.Val249Ile
XR_929703.1:n.2049G>A
NM_001353193.1:c.1873G>A	NP_001340122.1:p.Val625Ile
NM_001353194.1:c.1645G>A	NP_001340123.1:p.Val549Ile
NM_001353195.1:c.1456G>A	NP_001340124.1:p.Val486Ile
NM_001353196.1:c.1717G>A	NP_001340125.1:p.Val573Ile
NM_001353197.1:c.1711G>A	NP_001340126.1:p.Val571Ile
NM_001353198.1:c.1711G>A	NP_001340127.1:p.Val571Ile
NM_001353199.1:c.1522G>A	NP_001340128.1:p.Val508Ile
NM_001353200.1:c.1351G>A	NP_001340129.1:p.Val451Ile
NR_148391.1:n.1857G>A
NR_148392.1:n.2075G>A
NR_148393.1:n.1996G>A
NR_148394.1:n.1750G>A
NR_148395.1:n.2148G>A
NR_148396.1:n.1782G>A
NR_148397.1:n.1907G>A
NR_148398.1:n.1862G>A
NR_148399.1:n.2388G>A
NR_148400.1:n.1987G>A
XM_005272162.3:c.676G>A	XP_005272219.1:p.Val226Ile
XM_006716932.2:c.1522G>A	XP_006716995.1:p.Val508Ile
XM_011518140.2:c.1726G>A	XP_011516442.1:p.Val576Ile
XM_011518141.2:c.1660G>A	XP_011516443.1:p.Val554Ile
XM_011518142.2:c.1564G>A	XP_011516444.1:p.Val522Ile
XM_011518143.2:c.1558G>A	XP_011516445.1:p.Val520Ile
XM_011518145.2:c.1417G>A	XP_011516447.1:p.Val473Ile
XM_017014205.2:c.676G>A	XP_016869694.1:p.Val226Ile
XM_024447380.1:c.676G>A	XP_024303148.1:p.Val226Ile
XM_024447381.1:c.982G>A	XP_024303149.1:p.Val328Ile
XM_024447382.1:c.676G>A	XP_024303150.1:p.Val226Ile
XR_001746160.2:n.1977G>A
XR_001746162.2:n.2182G>A
XR_001746164.1:n.1899G>A
XR_001746166.2:n.2194G>A
NM_001077365.2:c.1807G>A MANE Select	NP_001070833.1:p.Val603Ile
NM_001077366.2:c.1645G>A	NP_001070834.1:p.Val549Ile
NM_001136113.2:c.1807G>A	NP_001129585.1:p.Val603Ile
NM_001136114.2:c.1456G>A	NP_001129586.1:p.Val486Ile
NM_001353193.2:c.1873G>A	NP_001340122.2:p.Val625Ile
NM_001353194.2:c.1645G>A	NP_001340123.1:p.Val549Ile
NM_001353195.2:c.1456G>A	NP_001340124.1:p.Val486Ile
NM_001353196.2:c.1717G>A	NP_001340125.1:p.Val573Ile
NM_001353197.2:c.1711G>A	NP_001340126.2:p.Val571Ile
NM_001353198.2:c.1711G>A	NP_001340127.2:p.Val571Ile
NM_001353199.2:c.1522G>A	NP_001340128.2:p.Val508Ile
NM_001353200.2:c.1351G>A	NP_001340129.1:p.Val451Ile
NM_001374689.1:c.1795G>A	NP_001361618.1:p.Val599Ile
NM_001374690.1:c.1588G>A	NP_001361619.1:p.Val530Ile
NM_001374691.1:c.1456G>A	NP_001361620.1:p.Val486Ile
NM_001374692.1:c.1456G>A	NP_001361621.1:p.Val486Ile
NM_001374693.1:c.1456G>A	NP_001361622.1:p.Val486Ile
NM_001374695.1:c.1417G>A	NP_001361624.1:p.Val473Ile
NM_007171.4:c.1873G>A	NP_009102.4:p.Val625Ile
NR_148391.2:n.1841G>A
NR_148392.2:n.2059G>A
NR_148393.2:n.1980G>A
NR_148394.2:n.1734G>A
NR_148395.2:n.2132G>A
NR_148396.2:n.1766G>A
NR_148397.2:n.1891G>A
NR_148398.2:n.1846G>A
NR_148399.2:n.2372G>A
NR_148400.2:n.1971G>A