Canonical Allele Identifier: CA375314361

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134397504C>A (hg19) ; chr9:g.131522117C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522117C>A , CM000671.2:g.131522117C>A	GRCh38
NC_000009.11:g.134397504C>A , CM000671.1:g.134397504C>A	GRCh37
NC_000009.10:g.133387325C>A	NCBI36
NG_008896.1:g.24216C>A
NG_008896.2:g.24216C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1734C>A	ENSP00000343034.7:p.Phe578Leu
ENST00000404875.7:n.2436C>A
ENST00000423007.6:c.1953C>A	ENSP00000404119.2:p.Phe651Leu
ENST00000677295.2:c.*2240C>A	ENSP00000504346.2:n.*2240C>A
ENST00000678264.2:c.*2079C>A	ENSP00000503157.2:n.*2079C>A
ENST00000682070.1:n.2291-85C>A
ENST00000682813.1:n.2300C>A
ENST00000683392.1:n.4573-85C>A
ENST00000683712.1:n.2301C>A
ENST00000683900.1:n.3796C>A
ENST00000684062.1:n.2562C>A
ENST00000684579.1:n.3742C>A
ENST00000684679.1:n.1123C>A
ENST00000341012.12:c.1734C>A	ENSP00000343034.7:p.Phe578Leu
ENST00000372220.5:c.765C>A	ENSP00000361294.5:p.Phe255Leu
ENST00000372228.9:c.1962C>A	ENSP00000361302.3:p.Phe654Leu
ENST00000402686.8:c.1896C>A MANE Select	ENSP00000385797.4:p.Phe632Leu
ENST00000676640.1:c.1896C>A	ENSP00000503281.1:p.Phe632Leu
ENST00000676803.1:c.957C>A	ENSP00000503093.1:p.Phe319Leu
ENST00000676835.1:c.*1111C>A	ENSP00000502911.1:n.*1111C>A
ENST00000677029.1:c.1440C>A	ENSP00000502936.1:p.Phe480Leu
ENST00000677099.1:c.*1606C>A	ENSP00000504553.1:n.*1606C>A
ENST00000677216.1:c.1545C>A	ENSP00000503772.1:p.Phe515Leu
ENST00000677221.1:n.921C>A
ENST00000677295.1:c.*1203-85C>A	ENSP00000504346.1:n.*1203-85C>A
ENST00000677444.1:c.1841C>A
ENST00000677586.1:n.1263C>A
ENST00000677626.1:c.1545C>A	ENSP00000503552.1:p.Phe515Leu
ENST00000677853.1:c.*904C>A	ENSP00000503488.1:n.*904C>A
ENST00000678202.1:n.1055C>A
ENST00000678264.1:c.*1273C>A	ENSP00000503157.1:n.*1273C>A
ENST00000678303.1:c.1806C>A	ENSP00000503696.1:p.Phe602Leu
ENST00000678366.1:c.*2145C>A	ENSP00000504353.1:n.*2145C>A
ENST00000678546.1:c.*1841C>A	ENSP00000503062.1:n.*1841C>A
ENST00000678548.1:c.*2035C>A	ENSP00000503934.1:n.*2035C>A
ENST00000678626.1:n.1732C>A
ENST00000678739.1:c.*2147-85C>A	ENSP00000503806.1:n.*2147-85C>A
ENST00000678833.1:c.*1648C>A	ENSP00000503893.1:n.*1648C>A
ENST00000679023.1:c.1734C>A	ENSP00000503718.1:p.Phe578Leu
ENST00000679076.1:c.1515C>A
ENST00000679111.1:c.*652C>A	ENSP00000504257.1:n.*652C>A
ENST00000679189.1:c.1545C>A	ENSP00000503356.1:p.Phe515Leu
ENST00000341012.11:c.1734C>A	ENSP00000343034.7:p.Phe578Leu
ENST00000372220.4:c.759C>A	ENSP00000361294.4:p.Phe253Leu
ENST00000372228.7:c.1962C>A	ENSP00000361302.3:p.Phe654Leu
ENST00000402686.7:c.1896C>A	ENSP00000385797.3:p.Phe632Leu
ENST00000404875.6:c.1545C>A	ENSP00000384531.2:p.Phe515Leu
ENST00000423007.5:c.1896C>A	ENSP00000404119.1:p.Phe632Leu
ENST00000485278.5:n.2446C>A
ENST00000494883.1:n.439C>A
NM_001077365.1:c.1896C>A	NP_001070833.1:p.Phe632Leu
NM_001077366.1:c.1734C>A	NP_001070834.1:p.Phe578Leu
NM_001136113.1:c.1896C>A	NP_001129585.1:p.Phe632Leu
NM_001136114.1:c.1545C>A	NP_001129586.1:p.Phe515Leu
NM_007171.3:c.1962C>A	NP_009102.3:p.Phe654Leu
XM_005272156.1:c.1962C>A	XP_005272213.1:p.Phe654Leu
XM_005272158.1:c.1800C>A	XP_005272215.1:p.Phe600Leu
XM_005272159.1:c.1611C>A	XP_005272216.1:p.Phe537Leu
XM_005272162.1:c.765C>A	XP_005272219.1:p.Phe255Leu
XM_006716932.1:c.1611C>A	XP_006716995.1:p.Phe537Leu
XM_011518140.1:c.1815C>A	XP_011516442.1:p.Phe605Leu
XM_011518141.1:c.1749C>A	XP_011516443.1:p.Phe583Leu
XM_011518142.1:c.1653C>A	XP_011516444.1:p.Phe551Leu
XM_011518143.1:c.1647C>A	XP_011516445.1:p.Phe549Leu
XM_011518145.1:c.1506C>A	XP_011516447.1:p.Phe502Leu
XM_011518147.1:c.834C>A	XP_011516449.1:p.Phe278Leu
XR_929703.1:n.2138C>A
NM_001353193.1:c.1962C>A	NP_001340122.1:p.Phe654Leu
NM_001353194.1:c.1734C>A	NP_001340123.1:p.Phe578Leu
NM_001353195.1:c.1545C>A	NP_001340124.1:p.Phe515Leu
NM_001353196.1:c.1806C>A	NP_001340125.1:p.Phe602Leu
NM_001353197.1:c.1800C>A	NP_001340126.1:p.Phe600Leu
NM_001353198.1:c.1800C>A	NP_001340127.1:p.Phe600Leu
NM_001353199.1:c.1611C>A	NP_001340128.1:p.Phe537Leu
NM_001353200.1:c.1440C>A	NP_001340129.1:p.Phe480Leu
NR_148391.1:n.1946C>A
NR_148392.1:n.2164C>A
NR_148393.1:n.2085C>A
NR_148394.1:n.1839C>A
NR_148395.1:n.2237C>A
NR_148396.1:n.1871C>A
NR_148397.1:n.1996C>A
NR_148398.1:n.1951C>A
NR_148399.1:n.2477C>A
NR_148400.1:n.2076C>A
XM_005272162.3:c.765C>A	XP_005272219.1:p.Phe255Leu
XM_006716932.2:c.1611C>A	XP_006716995.1:p.Phe537Leu
XM_011518140.2:c.1815C>A	XP_011516442.1:p.Phe605Leu
XM_011518141.2:c.1749C>A	XP_011516443.1:p.Phe583Leu
XM_011518142.2:c.1653C>A	XP_011516444.1:p.Phe551Leu
XM_011518143.2:c.1647C>A	XP_011516445.1:p.Phe549Leu
XM_011518145.2:c.1506C>A	XP_011516447.1:p.Phe502Leu
XM_017014205.2:c.765C>A	XP_016869694.1:p.Phe255Leu
XM_024447380.1:c.765C>A	XP_024303148.1:p.Phe255Leu
XM_024447381.1:c.1071C>A	XP_024303149.1:p.Phe357Leu
XM_024447382.1:c.765C>A	XP_024303150.1:p.Phe255Leu
XR_001746160.2:n.2066C>A
XR_001746162.2:n.2271C>A
XR_001746164.1:n.1988C>A
XR_001746166.2:n.2283C>A
NM_001077365.2:c.1896C>A MANE Select	NP_001070833.1:p.Phe632Leu
NM_001077366.2:c.1734C>A	NP_001070834.1:p.Phe578Leu
NM_001136113.2:c.1896C>A	NP_001129585.1:p.Phe632Leu
NM_001136114.2:c.1545C>A	NP_001129586.1:p.Phe515Leu
NM_001353193.2:c.1962C>A	NP_001340122.2:p.Phe654Leu
NM_001353194.2:c.1734C>A	NP_001340123.1:p.Phe578Leu
NM_001353195.2:c.1545C>A	NP_001340124.1:p.Phe515Leu
NM_001353196.2:c.1806C>A	NP_001340125.1:p.Phe602Leu
NM_001353197.2:c.1800C>A	NP_001340126.2:p.Phe600Leu
NM_001353198.2:c.1800C>A	NP_001340127.2:p.Phe600Leu
NM_001353199.2:c.1611C>A	NP_001340128.2:p.Phe537Leu
NM_001353200.2:c.1440C>A	NP_001340129.1:p.Phe480Leu
NM_001374689.1:c.1884C>A	NP_001361618.1:p.Phe628Leu
NM_001374690.1:c.1677C>A	NP_001361619.1:p.Phe559Leu
NM_001374691.1:c.1545C>A	NP_001361620.1:p.Phe515Leu
NM_001374692.1:c.1545C>A	NP_001361621.1:p.Phe515Leu
NM_001374693.1:c.1545C>A	NP_001361622.1:p.Phe515Leu
NM_001374695.1:c.1506C>A	NP_001361624.1:p.Phe502Leu
NM_007171.4:c.1962C>A	NP_009102.4:p.Phe654Leu
NR_148391.2:n.1930C>A
NR_148392.2:n.2148C>A
NR_148393.2:n.2069C>A
NR_148394.2:n.1823C>A
NR_148395.2:n.2221C>A
NR_148396.2:n.1855C>A
NR_148397.2:n.1980C>A
NR_148398.2:n.1935C>A
NR_148399.2:n.2461C>A
NR_148400.2:n.2060C>A