Canonical Allele Identifier: CA375314291

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134397485C>A (hg19) ; chr9:g.131522098C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522098C>A , CM000671.2:g.131522098C>A	GRCh38
NC_000009.11:g.134397485C>A , CM000671.1:g.134397485C>A	GRCh37
NC_000009.10:g.133387306C>A	NCBI36
NG_008896.1:g.24197C>A
NG_008896.2:g.24197C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1715C>A	ENSP00000343034.7:p.Ala572Glu
ENST00000404875.7:n.2417C>A
ENST00000423007.6:c.1934C>A	ENSP00000404119.2:p.Ala645Glu
ENST00000677295.2:c.*2221C>A	ENSP00000504346.2:n.*2221C>A
ENST00000678264.2:c.*2060C>A	ENSP00000503157.2:n.*2060C>A
ENST00000682070.1:n.2291-104C>A
ENST00000682813.1:n.2281C>A
ENST00000683392.1:n.4573-104C>A
ENST00000683712.1:n.2282C>A
ENST00000683900.1:n.3777C>A
ENST00000684062.1:n.2543C>A
ENST00000684579.1:n.3723C>A
ENST00000684679.1:n.1104C>A
ENST00000341012.12:c.1715C>A	ENSP00000343034.7:p.Ala572Glu
ENST00000372220.5:c.746C>A	ENSP00000361294.5:p.Ala249Glu
ENST00000372228.9:c.1943C>A	ENSP00000361302.3:p.Ala648Glu
ENST00000402686.8:c.1877C>A MANE Select	ENSP00000385797.4:p.Ala626Glu
ENST00000676640.1:c.1877C>A	ENSP00000503281.1:p.Ala626Glu
ENST00000676803.1:c.938C>A	ENSP00000503093.1:p.Ala313Glu
ENST00000676835.1:c.*1092C>A	ENSP00000502911.1:n.*1092C>A
ENST00000677029.1:c.1421C>A	ENSP00000502936.1:p.Ala474Glu
ENST00000677099.1:c.*1587C>A	ENSP00000504553.1:n.*1587C>A
ENST00000677216.1:c.1526C>A	ENSP00000503772.1:p.Ala509Glu
ENST00000677221.1:n.902C>A
ENST00000677295.1:c.*1203-104C>A	ENSP00000504346.1:n.*1203-104C>A
ENST00000677444.1:c.1822C>A
ENST00000677586.1:n.1244C>A
ENST00000677626.1:c.1526C>A	ENSP00000503552.1:p.Ala509Glu
ENST00000677853.1:c.*885C>A	ENSP00000503488.1:n.*885C>A
ENST00000678202.1:n.1036C>A
ENST00000678264.1:c.*1254C>A	ENSP00000503157.1:n.*1254C>A
ENST00000678303.1:c.1787C>A	ENSP00000503696.1:p.Ala596Glu
ENST00000678366.1:c.*2126C>A	ENSP00000504353.1:n.*2126C>A
ENST00000678546.1:c.*1822C>A	ENSP00000503062.1:n.*1822C>A
ENST00000678548.1:c.*2016C>A	ENSP00000503934.1:n.*2016C>A
ENST00000678626.1:n.1713C>A
ENST00000678739.1:c.*2147-104C>A	ENSP00000503806.1:n.*2147-104C>A
ENST00000678833.1:c.*1629C>A	ENSP00000503893.1:n.*1629C>A
ENST00000679023.1:c.1715C>A	ENSP00000503718.1:p.Ala572Glu
ENST00000679076.1:c.1496C>A
ENST00000679111.1:c.*633C>A	ENSP00000504257.1:n.*633C>A
ENST00000679189.1:c.1526C>A	ENSP00000503356.1:p.Ala509Glu
ENST00000341012.11:c.1715C>A	ENSP00000343034.7:p.Ala572Glu
ENST00000372220.4:c.740C>A	ENSP00000361294.4:p.Ala247Glu
ENST00000372228.7:c.1943C>A	ENSP00000361302.3:p.Ala648Glu
ENST00000402686.7:c.1877C>A	ENSP00000385797.3:p.Ala626Glu
ENST00000404875.6:c.1526C>A	ENSP00000384531.2:p.Ala509Glu
ENST00000423007.5:c.1877C>A	ENSP00000404119.1:p.Ala626Glu
ENST00000485278.5:n.2427C>A
ENST00000494883.1:n.420C>A
NM_001077365.1:c.1877C>A	NP_001070833.1:p.Ala626Glu
NM_001077366.1:c.1715C>A	NP_001070834.1:p.Ala572Glu
NM_001136113.1:c.1877C>A	NP_001129585.1:p.Ala626Glu
NM_001136114.1:c.1526C>A	NP_001129586.1:p.Ala509Glu
NM_007171.3:c.1943C>A	NP_009102.3:p.Ala648Glu
XM_005272156.1:c.1943C>A	XP_005272213.1:p.Ala648Glu
XM_005272158.1:c.1781C>A	XP_005272215.1:p.Ala594Glu
XM_005272159.1:c.1592C>A	XP_005272216.1:p.Ala531Glu
XM_005272162.1:c.746C>A	XP_005272219.1:p.Ala249Glu
XM_006716932.1:c.1592C>A	XP_006716995.1:p.Ala531Glu
XM_011518140.1:c.1796C>A	XP_011516442.1:p.Ala599Glu
XM_011518141.1:c.1730C>A	XP_011516443.1:p.Ala577Glu
XM_011518142.1:c.1634C>A	XP_011516444.1:p.Ala545Glu
XM_011518143.1:c.1628C>A	XP_011516445.1:p.Ala543Glu
XM_011518145.1:c.1487C>A	XP_011516447.1:p.Ala496Glu
XM_011518147.1:c.815C>A	XP_011516449.1:p.Ala272Glu
XR_929703.1:n.2119C>A
NM_001353193.1:c.1943C>A	NP_001340122.1:p.Ala648Glu
NM_001353194.1:c.1715C>A	NP_001340123.1:p.Ala572Glu
NM_001353195.1:c.1526C>A	NP_001340124.1:p.Ala509Glu
NM_001353196.1:c.1787C>A	NP_001340125.1:p.Ala596Glu
NM_001353197.1:c.1781C>A	NP_001340126.1:p.Ala594Glu
NM_001353198.1:c.1781C>A	NP_001340127.1:p.Ala594Glu
NM_001353199.1:c.1592C>A	NP_001340128.1:p.Ala531Glu
NM_001353200.1:c.1421C>A	NP_001340129.1:p.Ala474Glu
NR_148391.1:n.1927C>A
NR_148392.1:n.2145C>A
NR_148393.1:n.2066C>A
NR_148394.1:n.1820C>A
NR_148395.1:n.2218C>A
NR_148396.1:n.1852C>A
NR_148397.1:n.1977C>A
NR_148398.1:n.1932C>A
NR_148399.1:n.2458C>A
NR_148400.1:n.2057C>A
XM_005272162.3:c.746C>A	XP_005272219.1:p.Ala249Glu
XM_006716932.2:c.1592C>A	XP_006716995.1:p.Ala531Glu
XM_011518140.2:c.1796C>A	XP_011516442.1:p.Ala599Glu
XM_011518141.2:c.1730C>A	XP_011516443.1:p.Ala577Glu
XM_011518142.2:c.1634C>A	XP_011516444.1:p.Ala545Glu
XM_011518143.2:c.1628C>A	XP_011516445.1:p.Ala543Glu
XM_011518145.2:c.1487C>A	XP_011516447.1:p.Ala496Glu
XM_017014205.2:c.746C>A	XP_016869694.1:p.Ala249Glu
XM_024447380.1:c.746C>A	XP_024303148.1:p.Ala249Glu
XM_024447381.1:c.1052C>A	XP_024303149.1:p.Ala351Glu
XM_024447382.1:c.746C>A	XP_024303150.1:p.Ala249Glu
XR_001746160.2:n.2047C>A
XR_001746162.2:n.2252C>A
XR_001746164.1:n.1969C>A
XR_001746166.2:n.2264C>A
NM_001077365.2:c.1877C>A MANE Select	NP_001070833.1:p.Ala626Glu
NM_001077366.2:c.1715C>A	NP_001070834.1:p.Ala572Glu
NM_001136113.2:c.1877C>A	NP_001129585.1:p.Ala626Glu
NM_001136114.2:c.1526C>A	NP_001129586.1:p.Ala509Glu
NM_001353193.2:c.1943C>A	NP_001340122.2:p.Ala648Glu
NM_001353194.2:c.1715C>A	NP_001340123.1:p.Ala572Glu
NM_001353195.2:c.1526C>A	NP_001340124.1:p.Ala509Glu
NM_001353196.2:c.1787C>A	NP_001340125.1:p.Ala596Glu
NM_001353197.2:c.1781C>A	NP_001340126.2:p.Ala594Glu
NM_001353198.2:c.1781C>A	NP_001340127.2:p.Ala594Glu
NM_001353199.2:c.1592C>A	NP_001340128.2:p.Ala531Glu
NM_001353200.2:c.1421C>A	NP_001340129.1:p.Ala474Glu
NM_001374689.1:c.1865C>A	NP_001361618.1:p.Ala622Glu
NM_001374690.1:c.1658C>A	NP_001361619.1:p.Ala553Glu
NM_001374691.1:c.1526C>A	NP_001361620.1:p.Ala509Glu
NM_001374692.1:c.1526C>A	NP_001361621.1:p.Ala509Glu
NM_001374693.1:c.1526C>A	NP_001361622.1:p.Ala509Glu
NM_001374695.1:c.1487C>A	NP_001361624.1:p.Ala496Glu
NM_007171.4:c.1943C>A	NP_009102.4:p.Ala648Glu
NR_148391.2:n.1911C>A
NR_148392.2:n.2129C>A
NR_148393.2:n.2050C>A
NR_148394.2:n.1804C>A
NR_148395.2:n.2202C>A
NR_148396.2:n.1836C>A
NR_148397.2:n.1961C>A
NR_148398.2:n.1916C>A
NR_148399.2:n.2442C>A
NR_148400.2:n.2041C>A