Canonical Allele Identifier: CA375314711

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134397595A>T (hg19) ; chr9:g.131522208A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522208A>T , CM000671.2:g.131522208A>T	GRCh38
NC_000009.11:g.134397595A>T , CM000671.1:g.134397595A>T	GRCh37
NC_000009.10:g.133387416A>T	NCBI36
NG_008896.1:g.24307A>T
NG_008896.2:g.24307A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1825A>T	ENSP00000343034.7:p.Ser609Cys
ENST00000404875.7:n.2527A>T
ENST00000423007.6:c.2044A>T	ENSP00000404119.2:p.Ser682Cys
ENST00000677295.2:c.*2331A>T	ENSP00000504346.2:n.*2331A>T
ENST00000678264.2:c.*2170A>T	ENSP00000503157.2:n.*2170A>T
ENST00000682070.1:n.2297A>T
ENST00000682813.1:n.2391A>T
ENST00000683392.1:n.4579A>T
ENST00000683712.1:n.2392A>T
ENST00000683900.1:n.3887A>T
ENST00000684062.1:n.2653A>T
ENST00000684579.1:n.3833A>T
ENST00000341012.12:c.1825A>T	ENSP00000343034.7:p.Ser609Cys
ENST00000372220.5:c.856A>T	ENSP00000361294.5:p.Ser286Cys
ENST00000372228.9:c.2053A>T	ENSP00000361302.3:p.Ser685Cys
ENST00000402686.8:c.1987A>T MANE Select	ENSP00000385797.4:p.Ser663Cys
ENST00000676640.1:c.1987A>T	ENSP00000503281.1:p.Ser663Cys
ENST00000676803.1:c.1048A>T	ENSP00000503093.1:p.Ser350Cys
ENST00000676835.1:c.*1202A>T	ENSP00000502911.1:n.*1202A>T
ENST00000677029.1:c.1531A>T	ENSP00000502936.1:p.Ser511Cys
ENST00000677099.1:c.*1697A>T	ENSP00000504553.1:n.*1697A>T
ENST00000677216.1:c.1636A>T	ENSP00000503772.1:p.Ser546Cys
ENST00000677221.1:n.1012A>T
ENST00000677295.1:c.*1209A>T	ENSP00000504346.1:n.*1209A>T
ENST00000677444.1:c.1932A>T
ENST00000677586.1:n.1354A>T
ENST00000677626.1:c.1636A>T	ENSP00000503552.1:p.Ser546Cys
ENST00000677853.1:c.*995A>T	ENSP00000503488.1:n.*995A>T
ENST00000678264.1:c.*1364A>T	ENSP00000503157.1:n.*1364A>T
ENST00000678303.1:c.1897A>T	ENSP00000503696.1:p.Ser633Cys
ENST00000678366.1:c.*2236A>T	ENSP00000504353.1:n.*2236A>T
ENST00000678546.1:c.*1932A>T	ENSP00000503062.1:n.*1932A>T
ENST00000678548.1:c.*2126A>T	ENSP00000503934.1:n.*2126A>T
ENST00000678626.1:n.1823A>T
ENST00000678739.1:c.*2153A>T	ENSP00000503806.1:n.*2153A>T
ENST00000678833.1:c.*1739A>T	ENSP00000503893.1:n.*1739A>T
ENST00000679023.1:c.1825A>T	ENSP00000503718.1:p.Ser609Cys
ENST00000679076.1:c.1606A>T
ENST00000679111.1:c.*743A>T	ENSP00000504257.1:n.*743A>T
ENST00000679189.1:c.1636A>T	ENSP00000503356.1:p.Ser546Cys
ENST00000341012.11:c.1825A>T	ENSP00000343034.7:p.Ser609Cys
ENST00000372220.4:c.850A>T	ENSP00000361294.4:p.Ser284Cys
ENST00000372228.7:c.2053A>T	ENSP00000361302.3:p.Ser685Cys
ENST00000402686.7:c.1987A>T	ENSP00000385797.3:p.Ser663Cys
ENST00000404875.6:c.1636A>T	ENSP00000384531.2:p.Ser546Cys
ENST00000423007.5:c.1987A>T	ENSP00000404119.1:p.Ser663Cys
ENST00000485278.5:n.2537A>T
ENST00000494883.1:n.530A>T
NM_001077365.1:c.1987A>T	NP_001070833.1:p.Ser663Cys
NM_001077366.1:c.1825A>T	NP_001070834.1:p.Ser609Cys
NM_001136113.1:c.1987A>T	NP_001129585.1:p.Ser663Cys
NM_001136114.1:c.1636A>T	NP_001129586.1:p.Ser546Cys
NM_007171.3:c.2053A>T	NP_009102.3:p.Ser685Cys
XM_005272156.1:c.2053A>T	XP_005272213.1:p.Ser685Cys
XM_005272158.1:c.1891A>T	XP_005272215.1:p.Ser631Cys
XM_005272159.1:c.1702A>T	XP_005272216.1:p.Ser568Cys
XM_005272162.1:c.856A>T	XP_005272219.1:p.Ser286Cys
XM_006716932.1:c.1702A>T	XP_006716995.1:p.Ser568Cys
XM_011518140.1:c.1906A>T	XP_011516442.1:p.Ser636Cys
XM_011518141.1:c.1840A>T	XP_011516443.1:p.Ser614Cys
XM_011518142.1:c.1744A>T	XP_011516444.1:p.Ser582Cys
XM_011518143.1:c.1738A>T	XP_011516445.1:p.Ser580Cys
XM_011518145.1:c.1597A>T	XP_011516447.1:p.Ser533Cys
XM_011518147.1:c.925A>T	XP_011516449.1:p.Ser309Cys
XR_929703.1:n.2229A>T
NM_001353193.1:c.2053A>T	NP_001340122.1:p.Ser685Cys
NM_001353194.1:c.1825A>T	NP_001340123.1:p.Ser609Cys
NM_001353195.1:c.1636A>T	NP_001340124.1:p.Ser546Cys
NM_001353196.1:c.1897A>T	NP_001340125.1:p.Ser633Cys
NM_001353197.1:c.1891A>T	NP_001340126.1:p.Ser631Cys
NM_001353198.1:c.1891A>T	NP_001340127.1:p.Ser631Cys
NM_001353199.1:c.1702A>T	NP_001340128.1:p.Ser568Cys
NM_001353200.1:c.1531A>T	NP_001340129.1:p.Ser511Cys
NR_148391.1:n.2037A>T
NR_148392.1:n.2255A>T
NR_148393.1:n.2176A>T
NR_148394.1:n.1930A>T
NR_148395.1:n.2328A>T
NR_148396.1:n.1962A>T
NR_148397.1:n.2087A>T
NR_148398.1:n.2042A>T
NR_148399.1:n.2568A>T
NR_148400.1:n.2167A>T
XM_005272162.3:c.856A>T	XP_005272219.1:p.Ser286Cys
XM_006716932.2:c.1702A>T	XP_006716995.1:p.Ser568Cys
XM_011518140.2:c.1906A>T	XP_011516442.1:p.Ser636Cys
XM_011518141.2:c.1840A>T	XP_011516443.1:p.Ser614Cys
XM_011518142.2:c.1744A>T	XP_011516444.1:p.Ser582Cys
XM_011518143.2:c.1738A>T	XP_011516445.1:p.Ser580Cys
XM_011518145.2:c.1597A>T	XP_011516447.1:p.Ser533Cys
XM_017014205.2:c.856A>T	XP_016869694.1:p.Ser286Cys
XM_024447380.1:c.856A>T	XP_024303148.1:p.Ser286Cys
XM_024447381.1:c.1162A>T	XP_024303149.1:p.Ser388Cys
XM_024447382.1:c.856A>T	XP_024303150.1:p.Ser286Cys
XR_001746160.2:n.2157A>T
XR_001746162.2:n.2362A>T
XR_001746164.1:n.2079A>T
XR_001746166.2:n.2374A>T
NM_001077365.2:c.1987A>T MANE Select	NP_001070833.1:p.Ser663Cys
NM_001077366.2:c.1825A>T	NP_001070834.1:p.Ser609Cys
NM_001136113.2:c.1987A>T	NP_001129585.1:p.Ser663Cys
NM_001136114.2:c.1636A>T	NP_001129586.1:p.Ser546Cys
NM_001353193.2:c.2053A>T	NP_001340122.2:p.Ser685Cys
NM_001353194.2:c.1825A>T	NP_001340123.1:p.Ser609Cys
NM_001353195.2:c.1636A>T	NP_001340124.1:p.Ser546Cys
NM_001353196.2:c.1897A>T	NP_001340125.1:p.Ser633Cys
NM_001353197.2:c.1891A>T	NP_001340126.2:p.Ser631Cys
NM_001353198.2:c.1891A>T	NP_001340127.2:p.Ser631Cys
NM_001353199.2:c.1702A>T	NP_001340128.2:p.Ser568Cys
NM_001353200.2:c.1531A>T	NP_001340129.1:p.Ser511Cys
NM_001374689.1:c.1975A>T	NP_001361618.1:p.Ser659Cys
NM_001374690.1:c.1768A>T	NP_001361619.1:p.Ser590Cys
NM_001374691.1:c.1636A>T	NP_001361620.1:p.Ser546Cys
NM_001374692.1:c.1636A>T	NP_001361621.1:p.Ser546Cys
NM_001374693.1:c.1636A>T	NP_001361622.1:p.Ser546Cys
NM_001374695.1:c.1597A>T	NP_001361624.1:p.Ser533Cys
NM_007171.4:c.2053A>T	NP_009102.4:p.Ser685Cys
NR_148391.2:n.2021A>T
NR_148392.2:n.2239A>T
NR_148393.2:n.2160A>T
NR_148394.2:n.1914A>T
NR_148395.2:n.2312A>T
NR_148396.2:n.1946A>T
NR_148397.2:n.2071A>T
NR_148398.2:n.2026A>T
NR_148399.2:n.2552A>T
NR_148400.2:n.2151A>T