Canonical Allele Identifier: CA375314533

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134397548C>A (hg19) ; chr9:g.131522161C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522161C>A , CM000671.2:g.131522161C>A	GRCh38
NC_000009.11:g.134397548C>A , CM000671.1:g.134397548C>A	GRCh37
NC_000009.10:g.133387369C>A	NCBI36
NG_008896.1:g.24260C>A
NG_008896.2:g.24260C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1778C>A	ENSP00000343034.7:p.Ala593Glu
ENST00000404875.7:n.2480C>A
ENST00000423007.6:c.1997C>A	ENSP00000404119.2:p.Ala666Glu
ENST00000677295.2:c.*2284C>A	ENSP00000504346.2:n.*2284C>A
ENST00000678264.2:c.*2123C>A	ENSP00000503157.2:n.*2123C>A
ENST00000682070.1:n.2291-41C>A
ENST00000682813.1:n.2344C>A
ENST00000683392.1:n.4573-41C>A
ENST00000683712.1:n.2345C>A
ENST00000683900.1:n.3840C>A
ENST00000684062.1:n.2606C>A
ENST00000684579.1:n.3786C>A
ENST00000684679.1:n.1167C>A
ENST00000341012.12:c.1778C>A	ENSP00000343034.7:p.Ala593Glu
ENST00000372220.5:c.809C>A	ENSP00000361294.5:p.Ala270Glu
ENST00000372228.9:c.2006C>A	ENSP00000361302.3:p.Ala669Glu
ENST00000402686.8:c.1940C>A MANE Select	ENSP00000385797.4:p.Ala647Glu
ENST00000676640.1:c.1940C>A	ENSP00000503281.1:p.Ala647Glu
ENST00000676803.1:c.1001C>A	ENSP00000503093.1:p.Ala334Glu
ENST00000676835.1:c.*1155C>A	ENSP00000502911.1:n.*1155C>A
ENST00000677029.1:c.1484C>A	ENSP00000502936.1:p.Ala495Glu
ENST00000677099.1:c.*1650C>A	ENSP00000504553.1:n.*1650C>A
ENST00000677216.1:c.1589C>A	ENSP00000503772.1:p.Ala530Glu
ENST00000677221.1:n.965C>A
ENST00000677295.1:c.*1203-41C>A	ENSP00000504346.1:n.*1203-41C>A
ENST00000677444.1:c.1885C>A
ENST00000677586.1:n.1307C>A
ENST00000677626.1:c.1589C>A	ENSP00000503552.1:p.Ala530Glu
ENST00000677853.1:c.*948C>A	ENSP00000503488.1:n.*948C>A
ENST00000678202.1:n.1099C>A
ENST00000678264.1:c.*1317C>A	ENSP00000503157.1:n.*1317C>A
ENST00000678303.1:c.1850C>A	ENSP00000503696.1:p.Ala617Glu
ENST00000678366.1:c.*2189C>A	ENSP00000504353.1:n.*2189C>A
ENST00000678546.1:c.*1885C>A	ENSP00000503062.1:n.*1885C>A
ENST00000678548.1:c.*2079C>A	ENSP00000503934.1:n.*2079C>A
ENST00000678626.1:n.1776C>A
ENST00000678739.1:c.*2147-41C>A	ENSP00000503806.1:n.*2147-41C>A
ENST00000678833.1:c.*1692C>A	ENSP00000503893.1:n.*1692C>A
ENST00000679023.1:c.1778C>A	ENSP00000503718.1:p.Ala593Glu
ENST00000679076.1:c.1559C>A
ENST00000679111.1:c.*696C>A	ENSP00000504257.1:n.*696C>A
ENST00000679189.1:c.1589C>A	ENSP00000503356.1:p.Ala530Glu
ENST00000341012.11:c.1778C>A	ENSP00000343034.7:p.Ala593Glu
ENST00000372220.4:c.803C>A	ENSP00000361294.4:p.Ala268Glu
ENST00000372228.7:c.2006C>A	ENSP00000361302.3:p.Ala669Glu
ENST00000402686.7:c.1940C>A	ENSP00000385797.3:p.Ala647Glu
ENST00000404875.6:c.1589C>A	ENSP00000384531.2:p.Ala530Glu
ENST00000423007.5:c.1940C>A	ENSP00000404119.1:p.Ala647Glu
ENST00000485278.5:n.2490C>A
ENST00000494883.1:n.483C>A
NM_001077365.1:c.1940C>A	NP_001070833.1:p.Ala647Glu
NM_001077366.1:c.1778C>A	NP_001070834.1:p.Ala593Glu
NM_001136113.1:c.1940C>A	NP_001129585.1:p.Ala647Glu
NM_001136114.1:c.1589C>A	NP_001129586.1:p.Ala530Glu
NM_007171.3:c.2006C>A	NP_009102.3:p.Ala669Glu
XM_005272156.1:c.2006C>A	XP_005272213.1:p.Ala669Glu
XM_005272158.1:c.1844C>A	XP_005272215.1:p.Ala615Glu
XM_005272159.1:c.1655C>A	XP_005272216.1:p.Ala552Glu
XM_005272162.1:c.809C>A	XP_005272219.1:p.Ala270Glu
XM_006716932.1:c.1655C>A	XP_006716995.1:p.Ala552Glu
XM_011518140.1:c.1859C>A	XP_011516442.1:p.Ala620Glu
XM_011518141.1:c.1793C>A	XP_011516443.1:p.Ala598Glu
XM_011518142.1:c.1697C>A	XP_011516444.1:p.Ala566Glu
XM_011518143.1:c.1691C>A	XP_011516445.1:p.Ala564Glu
XM_011518145.1:c.1550C>A	XP_011516447.1:p.Ala517Glu
XM_011518147.1:c.878C>A	XP_011516449.1:p.Ala293Glu
XR_929703.1:n.2182C>A
NM_001353193.1:c.2006C>A	NP_001340122.1:p.Ala669Glu
NM_001353194.1:c.1778C>A	NP_001340123.1:p.Ala593Glu
NM_001353195.1:c.1589C>A	NP_001340124.1:p.Ala530Glu
NM_001353196.1:c.1850C>A	NP_001340125.1:p.Ala617Glu
NM_001353197.1:c.1844C>A	NP_001340126.1:p.Ala615Glu
NM_001353198.1:c.1844C>A	NP_001340127.1:p.Ala615Glu
NM_001353199.1:c.1655C>A	NP_001340128.1:p.Ala552Glu
NM_001353200.1:c.1484C>A	NP_001340129.1:p.Ala495Glu
NR_148391.1:n.1990C>A
NR_148392.1:n.2208C>A
NR_148393.1:n.2129C>A
NR_148394.1:n.1883C>A
NR_148395.1:n.2281C>A
NR_148396.1:n.1915C>A
NR_148397.1:n.2040C>A
NR_148398.1:n.1995C>A
NR_148399.1:n.2521C>A
NR_148400.1:n.2120C>A
XM_005272162.3:c.809C>A	XP_005272219.1:p.Ala270Glu
XM_006716932.2:c.1655C>A	XP_006716995.1:p.Ala552Glu
XM_011518140.2:c.1859C>A	XP_011516442.1:p.Ala620Glu
XM_011518141.2:c.1793C>A	XP_011516443.1:p.Ala598Glu
XM_011518142.2:c.1697C>A	XP_011516444.1:p.Ala566Glu
XM_011518143.2:c.1691C>A	XP_011516445.1:p.Ala564Glu
XM_011518145.2:c.1550C>A	XP_011516447.1:p.Ala517Glu
XM_017014205.2:c.809C>A	XP_016869694.1:p.Ala270Glu
XM_024447380.1:c.809C>A	XP_024303148.1:p.Ala270Glu
XM_024447381.1:c.1115C>A	XP_024303149.1:p.Ala372Glu
XM_024447382.1:c.809C>A	XP_024303150.1:p.Ala270Glu
XR_001746160.2:n.2110C>A
XR_001746162.2:n.2315C>A
XR_001746164.1:n.2032C>A
XR_001746166.2:n.2327C>A
NM_001077365.2:c.1940C>A MANE Select	NP_001070833.1:p.Ala647Glu
NM_001077366.2:c.1778C>A	NP_001070834.1:p.Ala593Glu
NM_001136113.2:c.1940C>A	NP_001129585.1:p.Ala647Glu
NM_001136114.2:c.1589C>A	NP_001129586.1:p.Ala530Glu
NM_001353193.2:c.2006C>A	NP_001340122.2:p.Ala669Glu
NM_001353194.2:c.1778C>A	NP_001340123.1:p.Ala593Glu
NM_001353195.2:c.1589C>A	NP_001340124.1:p.Ala530Glu
NM_001353196.2:c.1850C>A	NP_001340125.1:p.Ala617Glu
NM_001353197.2:c.1844C>A	NP_001340126.2:p.Ala615Glu
NM_001353198.2:c.1844C>A	NP_001340127.2:p.Ala615Glu
NM_001353199.2:c.1655C>A	NP_001340128.2:p.Ala552Glu
NM_001353200.2:c.1484C>A	NP_001340129.1:p.Ala495Glu
NM_001374689.1:c.1928C>A	NP_001361618.1:p.Ala643Glu
NM_001374690.1:c.1721C>A	NP_001361619.1:p.Ala574Glu
NM_001374691.1:c.1589C>A	NP_001361620.1:p.Ala530Glu
NM_001374692.1:c.1589C>A	NP_001361621.1:p.Ala530Glu
NM_001374693.1:c.1589C>A	NP_001361622.1:p.Ala530Glu
NM_001374695.1:c.1550C>A	NP_001361624.1:p.Ala517Glu
NM_007171.4:c.2006C>A	NP_009102.4:p.Ala669Glu
NR_148391.2:n.1974C>A
NR_148392.2:n.2192C>A
NR_148393.2:n.2113C>A
NR_148394.2:n.1867C>A
NR_148395.2:n.2265C>A
NR_148396.2:n.1899C>A
NR_148397.2:n.2024C>A
NR_148398.2:n.1979C>A
NR_148399.2:n.2505C>A
NR_148400.2:n.2104C>A