Canonical Allele Identifier: CA375313970

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134396842T>A (hg19) ; chr9:g.131521455T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131521455T>A , CM000671.2:g.131521455T>A	GRCh38
NC_000009.11:g.134396842T>A , CM000671.1:g.134396842T>A	GRCh37
NC_000009.10:g.133386663T>A	NCBI36
NG_008896.1:g.23554T>A
NG_008896.2:g.23554T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1646T>A	ENSP00000343034.7:p.Val549Asp
ENST00000404875.7:n.2348T>A
ENST00000423007.6:c.1865T>A	ENSP00000404119.2:p.Val622Asp
ENST00000677295.2:c.*2152T>A	ENSP00000504346.2:n.*2152T>A
ENST00000678264.2:c.*1991T>A	ENSP00000503157.2:n.*1991T>A
ENST00000682070.1:n.2273T>A
ENST00000682813.1:n.2212T>A
ENST00000683392.1:n.4555T>A
ENST00000683712.1:n.2213T>A
ENST00000683900.1:n.3708T>A
ENST00000684062.1:n.2474T>A
ENST00000684579.1:n.3654T>A
ENST00000684679.1:n.1035T>A
ENST00000341012.12:c.1646T>A	ENSP00000343034.7:p.Val549Asp
ENST00000372220.5:c.677T>A	ENSP00000361294.5:p.Val226Asp
ENST00000372228.9:c.1874T>A	ENSP00000361302.3:p.Val625Asp
ENST00000402686.8:c.1808T>A MANE Select	ENSP00000385797.4:p.Val603Asp
ENST00000676640.1:c.1808T>A	ENSP00000503281.1:p.Val603Asp
ENST00000676803.1:c.869T>A	ENSP00000503093.1:p.Val290Asp
ENST00000676835.1:c.*1023T>A	ENSP00000502911.1:n.*1023T>A
ENST00000677029.1:c.1352T>A	ENSP00000502936.1:p.Val451Asp
ENST00000677099.1:c.*1518T>A	ENSP00000504553.1:n.*1518T>A
ENST00000677216.1:c.1457T>A	ENSP00000503772.1:p.Val486Asp
ENST00000677221.1:n.833T>A
ENST00000677295.1:c.*1185T>A	ENSP00000504346.1:n.*1185T>A
ENST00000677444.1:c.1753T>A
ENST00000677586.1:n.1175T>A
ENST00000677626.1:c.1457T>A	ENSP00000503552.1:p.Val486Asp
ENST00000677853.1:c.*816T>A	ENSP00000503488.1:n.*816T>A
ENST00000678202.1:n.967T>A
ENST00000678264.1:c.*1185T>A	ENSP00000503157.1:n.*1185T>A
ENST00000678303.1:c.1718T>A	ENSP00000503696.1:p.Val573Asp
ENST00000678366.1:c.*2057T>A	ENSP00000504353.1:n.*2057T>A
ENST00000678546.1:c.*1753T>A	ENSP00000503062.1:n.*1753T>A
ENST00000678548.1:c.*1880T>A	ENSP00000503934.1:n.*1880T>A
ENST00000678626.1:n.1644T>A
ENST00000678739.1:c.*2129T>A	ENSP00000503806.1:n.*2129T>A
ENST00000678833.1:c.*1560T>A	ENSP00000503893.1:n.*1560T>A
ENST00000679023.1:c.1646T>A	ENSP00000503718.1:p.Val549Asp
ENST00000679076.1:c.1427T>A
ENST00000679111.1:c.*564T>A	ENSP00000504257.1:n.*564T>A
ENST00000679189.1:c.1457T>A	ENSP00000503356.1:p.Val486Asp
ENST00000341012.11:c.1646T>A	ENSP00000343034.7:p.Val549Asp
ENST00000372220.4:c.671T>A	ENSP00000361294.4:p.Val224Asp
ENST00000372228.7:c.1874T>A	ENSP00000361302.3:p.Val625Asp
ENST00000402686.7:c.1808T>A	ENSP00000385797.3:p.Val603Asp
ENST00000404875.6:c.1457T>A	ENSP00000384531.2:p.Val486Asp
ENST00000423007.5:c.1808T>A	ENSP00000404119.1:p.Val603Asp
ENST00000485278.5:n.2358T>A
ENST00000494883.1:n.351T>A
NM_001077365.1:c.1808T>A	NP_001070833.1:p.Val603Asp
NM_001077366.1:c.1646T>A	NP_001070834.1:p.Val549Asp
NM_001136113.1:c.1808T>A	NP_001129585.1:p.Val603Asp
NM_001136114.1:c.1457T>A	NP_001129586.1:p.Val486Asp
NM_007171.3:c.1874T>A	NP_009102.3:p.Val625Asp
XM_005272156.1:c.1874T>A	XP_005272213.1:p.Val625Asp
XM_005272158.1:c.1712T>A	XP_005272215.1:p.Val571Asp
XM_005272159.1:c.1523T>A	XP_005272216.1:p.Val508Asp
XM_005272162.1:c.677T>A	XP_005272219.1:p.Val226Asp
XM_006716932.1:c.1523T>A	XP_006716995.1:p.Val508Asp
XM_011518140.1:c.1727T>A	XP_011516442.1:p.Val576Asp
XM_011518141.1:c.1661T>A	XP_011516443.1:p.Val554Asp
XM_011518142.1:c.1565T>A	XP_011516444.1:p.Val522Asp
XM_011518143.1:c.1559T>A	XP_011516445.1:p.Val520Asp
XM_011518145.1:c.1418T>A	XP_011516447.1:p.Val473Asp
XM_011518147.1:c.746T>A	XP_011516449.1:p.Val249Asp
XR_929703.1:n.2050T>A
NM_001353193.1:c.1874T>A	NP_001340122.1:p.Val625Asp
NM_001353194.1:c.1646T>A	NP_001340123.1:p.Val549Asp
NM_001353195.1:c.1457T>A	NP_001340124.1:p.Val486Asp
NM_001353196.1:c.1718T>A	NP_001340125.1:p.Val573Asp
NM_001353197.1:c.1712T>A	NP_001340126.1:p.Val571Asp
NM_001353198.1:c.1712T>A	NP_001340127.1:p.Val571Asp
NM_001353199.1:c.1523T>A	NP_001340128.1:p.Val508Asp
NM_001353200.1:c.1352T>A	NP_001340129.1:p.Val451Asp
NR_148391.1:n.1858T>A
NR_148392.1:n.2076T>A
NR_148393.1:n.1997T>A
NR_148394.1:n.1751T>A
NR_148395.1:n.2149T>A
NR_148396.1:n.1783T>A
NR_148397.1:n.1908T>A
NR_148398.1:n.1863T>A
NR_148399.1:n.2389T>A
NR_148400.1:n.1988T>A
XM_005272162.3:c.677T>A	XP_005272219.1:p.Val226Asp
XM_006716932.2:c.1523T>A	XP_006716995.1:p.Val508Asp
XM_011518140.2:c.1727T>A	XP_011516442.1:p.Val576Asp
XM_011518141.2:c.1661T>A	XP_011516443.1:p.Val554Asp
XM_011518142.2:c.1565T>A	XP_011516444.1:p.Val522Asp
XM_011518143.2:c.1559T>A	XP_011516445.1:p.Val520Asp
XM_011518145.2:c.1418T>A	XP_011516447.1:p.Val473Asp
XM_017014205.2:c.677T>A	XP_016869694.1:p.Val226Asp
XM_024447380.1:c.677T>A	XP_024303148.1:p.Val226Asp
XM_024447381.1:c.983T>A	XP_024303149.1:p.Val328Asp
XM_024447382.1:c.677T>A	XP_024303150.1:p.Val226Asp
XR_001746160.2:n.1978T>A
XR_001746162.2:n.2183T>A
XR_001746164.1:n.1900T>A
XR_001746166.2:n.2195T>A
NM_001077365.2:c.1808T>A MANE Select	NP_001070833.1:p.Val603Asp
NM_001077366.2:c.1646T>A	NP_001070834.1:p.Val549Asp
NM_001136113.2:c.1808T>A	NP_001129585.1:p.Val603Asp
NM_001136114.2:c.1457T>A	NP_001129586.1:p.Val486Asp
NM_001353193.2:c.1874T>A	NP_001340122.2:p.Val625Asp
NM_001353194.2:c.1646T>A	NP_001340123.1:p.Val549Asp
NM_001353195.2:c.1457T>A	NP_001340124.1:p.Val486Asp
NM_001353196.2:c.1718T>A	NP_001340125.1:p.Val573Asp
NM_001353197.2:c.1712T>A	NP_001340126.2:p.Val571Asp
NM_001353198.2:c.1712T>A	NP_001340127.2:p.Val571Asp
NM_001353199.2:c.1523T>A	NP_001340128.2:p.Val508Asp
NM_001353200.2:c.1352T>A	NP_001340129.1:p.Val451Asp
NM_001374689.1:c.1796T>A	NP_001361618.1:p.Val599Asp
NM_001374690.1:c.1589T>A	NP_001361619.1:p.Val530Asp
NM_001374691.1:c.1457T>A	NP_001361620.1:p.Val486Asp
NM_001374692.1:c.1457T>A	NP_001361621.1:p.Val486Asp
NM_001374693.1:c.1457T>A	NP_001361622.1:p.Val486Asp
NM_001374695.1:c.1418T>A	NP_001361624.1:p.Val473Asp
NM_007171.4:c.1874T>A	NP_009102.4:p.Val625Asp
NR_148391.2:n.1842T>A
NR_148392.2:n.2060T>A
NR_148393.2:n.1981T>A
NR_148394.2:n.1735T>A
NR_148395.2:n.2133T>A
NR_148396.2:n.1767T>A
NR_148397.2:n.1892T>A
NR_148398.2:n.1847T>A
NR_148399.2:n.2373T>A
NR_148400.2:n.1972T>A