Canonical Allele Identifier: CA1881756827

Gene: POMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131521451A= , CM000671.2:g.131521451A=	GRCh38
NC_000009.11:g.134396838A= , CM000671.1:g.134396838A=	GRCh37
NC_000009.10:g.133386659A=	NCBI36
NG_008896.1:g.23550A=
NG_008896.2:g.23550A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1642A=	ENSP00000343034.7:p.Asn548=
ENST00000404875.7:n.2344A=
ENST00000423007.6:c.1861A=	ENSP00000404119.2:p.Asn621=
ENST00000677295.2:c.*2148A=	ENSP00000504346.2:n.*2148A=
ENST00000678264.2:c.*1987A=	ENSP00000503157.2:n.*1987A=
ENST00000682070.1:n.2269A=
ENST00000682813.1:n.2208A=
ENST00000683392.1:n.4551A=
ENST00000683712.1:n.2209A=
ENST00000683900.1:n.3704A=
ENST00000684062.1:n.2470A=
ENST00000684579.1:n.3650A=
ENST00000684679.1:n.1031A=
ENST00000341012.12:c.1642A=	ENSP00000343034.7:p.Asn548=
ENST00000372220.5:c.673A=	ENSP00000361294.5:p.Asn225=
ENST00000372228.9:c.1870A=	ENSP00000361302.3:p.Asn624=
ENST00000402686.8:c.1804A= MANE Select	ENSP00000385797.4:p.Asn602=
ENST00000676640.1:c.1804A=	ENSP00000503281.1:p.Asn602=
ENST00000676803.1:c.865A=	ENSP00000503093.1:p.Asn289=
ENST00000676835.1:c.*1019A=	ENSP00000502911.1:n.*1019A=
ENST00000677029.1:c.1348A=	ENSP00000502936.1:p.Asn450=
ENST00000677099.1:c.*1514A=	ENSP00000504553.1:n.*1514A=
ENST00000677216.1:c.1453A=	ENSP00000503772.1:p.Asn485=
ENST00000677221.1:n.829A=
ENST00000677295.1:c.*1181A=	ENSP00000504346.1:n.*1181A=
ENST00000677444.1:c.1749A=
ENST00000677586.1:n.1171A=
ENST00000677626.1:c.1453A=	ENSP00000503552.1:p.Asn485=
ENST00000677853.1:c.*812A=	ENSP00000503488.1:n.*812A=
ENST00000678202.1:n.963A=
ENST00000678264.1:c.*1181A=	ENSP00000503157.1:n.*1181A=
ENST00000678303.1:c.1714A=	ENSP00000503696.1:p.Asn572=
ENST00000678366.1:c.*2053A=	ENSP00000504353.1:n.*2053A=
ENST00000678546.1:c.*1749A=	ENSP00000503062.1:n.*1749A=
ENST00000678548.1:c.*1876A=	ENSP00000503934.1:n.*1876A=
ENST00000678626.1:n.1640A=
ENST00000678739.1:c.*2125A=	ENSP00000503806.1:n.*2125A=
ENST00000678833.1:c.*1556A=	ENSP00000503893.1:n.*1556A=
ENST00000679023.1:c.1642A=	ENSP00000503718.1:p.Asn548=
ENST00000679076.1:c.1423A=
ENST00000679111.1:c.*560A=	ENSP00000504257.1:n.*560A=
ENST00000679189.1:c.1453A=	ENSP00000503356.1:p.Asn485=
ENST00000341012.11:c.1642A=	ENSP00000343034.7:p.Asn548=
ENST00000372220.4:c.667A=	ENSP00000361294.4:p.Asn223=
ENST00000372228.7:c.1870A=	ENSP00000361302.3:p.Asn624=
ENST00000402686.7:c.1804A=	ENSP00000385797.3:p.Asn602=
ENST00000404875.6:c.1453A=	ENSP00000384531.2:p.Asn485=
ENST00000423007.5:c.1804A=	ENSP00000404119.1:p.Asn602=
ENST00000485278.5:n.2354A=
ENST00000494883.1:n.347A=
NM_001077365.1:c.1804A=	NP_001070833.1:p.Asn602=
NM_001077366.1:c.1642A=	NP_001070834.1:p.Asn548=
NM_001136113.1:c.1804A=	NP_001129585.1:p.Asn602=
NM_001136114.1:c.1453A=	NP_001129586.1:p.Asn485=
NM_007171.3:c.1870A=	NP_009102.3:p.Asn624=
XM_005272156.1:c.1870A=	XP_005272213.1:p.Asn624=
XM_005272158.1:c.1708A=	XP_005272215.1:p.Asn570=
XM_005272159.1:c.1519A=	XP_005272216.1:p.Asn507=
XM_005272162.1:c.673A=	XP_005272219.1:p.Asn225=
XM_006716932.1:c.1519A=	XP_006716995.1:p.Asn507=
XM_011518140.1:c.1723A=	XP_011516442.1:p.Asn575=
XM_011518141.1:c.1657A=	XP_011516443.1:p.Asn553=
XM_011518142.1:c.1561A=	XP_011516444.1:p.Asn521=
XM_011518143.1:c.1555A=	XP_011516445.1:p.Asn519=
XM_011518145.1:c.1414A=	XP_011516447.1:p.Asn472=
XM_011518147.1:c.742A=	XP_011516449.1:p.Asn248=
XR_929703.1:n.2046A=
NM_001353193.1:c.1870A=	NP_001340122.1:p.Asn624=
NM_001353194.1:c.1642A=	NP_001340123.1:p.Asn548=
NM_001353195.1:c.1453A=	NP_001340124.1:p.Asn485=
NM_001353196.1:c.1714A=	NP_001340125.1:p.Asn572=
NM_001353197.1:c.1708A=	NP_001340126.1:p.Asn570=
NM_001353198.1:c.1708A=	NP_001340127.1:p.Asn570=
NM_001353199.1:c.1519A=	NP_001340128.1:p.Asn507=
NM_001353200.1:c.1348A=	NP_001340129.1:p.Asn450=
NR_148391.1:n.1854A=
NR_148392.1:n.2072A=
NR_148393.1:n.1993A=
NR_148394.1:n.1747A=
NR_148395.1:n.2145A=
NR_148396.1:n.1779A=
NR_148397.1:n.1904A=
NR_148398.1:n.1859A=
NR_148399.1:n.2385A=
NR_148400.1:n.1984A=
XM_005272162.3:c.673A=	XP_005272219.1:p.Asn225=
XM_006716932.2:c.1519A=	XP_006716995.1:p.Asn507=
XM_011518140.2:c.1723A=	XP_011516442.1:p.Asn575=
XM_011518141.2:c.1657A=	XP_011516443.1:p.Asn553=
XM_011518142.2:c.1561A=	XP_011516444.1:p.Asn521=
XM_011518143.2:c.1555A=	XP_011516445.1:p.Asn519=
XM_011518145.2:c.1414A=	XP_011516447.1:p.Asn472=
XM_017014205.2:c.673A=	XP_016869694.1:p.Asn225=
XM_024447380.1:c.673A=	XP_024303148.1:p.Asn225=
XM_024447381.1:c.979A=	XP_024303149.1:p.Asn327=
XM_024447382.1:c.673A=	XP_024303150.1:p.Asn225=
XR_001746160.2:n.1974A=
XR_001746162.2:n.2179A=
XR_001746164.1:n.1896A=
XR_001746166.2:n.2191A=
NM_001077365.2:c.1804A= MANE Select	NP_001070833.1:p.Asn602=
NM_001077366.2:c.1642A=	NP_001070834.1:p.Asn548=
NM_001136113.2:c.1804A=	NP_001129585.1:p.Asn602=
NM_001136114.2:c.1453A=	NP_001129586.1:p.Asn485=
NM_001353193.2:c.1870A=	NP_001340122.2:p.Asn624=
NM_001353194.2:c.1642A=	NP_001340123.1:p.Asn548=
NM_001353195.2:c.1453A=	NP_001340124.1:p.Asn485=
NM_001353196.2:c.1714A=	NP_001340125.1:p.Asn572=
NM_001353197.2:c.1708A=	NP_001340126.2:p.Asn570=
NM_001353198.2:c.1708A=	NP_001340127.2:p.Asn570=
NM_001353199.2:c.1519A=	NP_001340128.2:p.Asn507=
NM_001353200.2:c.1348A=	NP_001340129.1:p.Asn450=
NM_001374689.1:c.1792A=	NP_001361618.1:p.Asn598=
NM_001374690.1:c.1585A=	NP_001361619.1:p.Asn529=
NM_001374691.1:c.1453A=	NP_001361620.1:p.Asn485=
NM_001374692.1:c.1453A=	NP_001361621.1:p.Asn485=
NM_001374693.1:c.1453A=	NP_001361622.1:p.Asn485=
NM_001374695.1:c.1414A=	NP_001361624.1:p.Asn472=
NM_007171.4:c.1870A=	NP_009102.4:p.Asn624=
NR_148391.2:n.1838A=
NR_148392.2:n.2056A=
NR_148393.2:n.1977A=
NR_148394.2:n.1731A=
NR_148395.2:n.2129A=
NR_148396.2:n.1763A=
NR_148397.2:n.1888A=
NR_148398.2:n.1843A=
NR_148399.2:n.2369A=
NR_148400.2:n.1968A=