Canonical Allele Identifier: CA1881758055

Gene: POMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522078G= , CM000671.2:g.131522078G=	GRCh38
NC_000009.11:g.134397465G= , CM000671.1:g.134397465G=	GRCh37
NC_000009.10:g.133387286G=	NCBI36
NG_008896.1:g.24177G=
NG_008896.2:g.24177G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1695G=	ENSP00000343034.7:p.Ala565=
ENST00000404875.7:n.2397G=
ENST00000423007.6:c.1914G=	ENSP00000404119.2:p.Ala638=
ENST00000677295.2:c.*2201G=	ENSP00000504346.2:n.*2201G=
ENST00000678264.2:c.*2040G=	ENSP00000503157.2:n.*2040G=
ENST00000682070.1:n.2291-124G=
ENST00000682813.1:n.2261G=
ENST00000683392.1:n.4573-124G=
ENST00000683712.1:n.2262G=
ENST00000683900.1:n.3757G=
ENST00000684062.1:n.2523G=
ENST00000684579.1:n.3703G=
ENST00000684679.1:n.1084G=
ENST00000341012.12:c.1695G=	ENSP00000343034.7:p.Ala565=
ENST00000372220.5:c.726G=	ENSP00000361294.5:p.Ala242=
ENST00000372228.9:c.1923G=	ENSP00000361302.3:p.Ala641=
ENST00000402686.8:c.1857G= MANE Select	ENSP00000385797.4:p.Ala619=
ENST00000676640.1:c.1857G=	ENSP00000503281.1:p.Ala619=
ENST00000676803.1:c.918G=	ENSP00000503093.1:p.Ala306=
ENST00000676835.1:c.*1072G=	ENSP00000502911.1:n.*1072G=
ENST00000677029.1:c.1401G=	ENSP00000502936.1:p.Ala467=
ENST00000677099.1:c.*1567G=	ENSP00000504553.1:n.*1567G=
ENST00000677216.1:c.1506G=	ENSP00000503772.1:p.Ala502=
ENST00000677221.1:n.882G=
ENST00000677295.1:c.*1203-124G=	ENSP00000504346.1:n.*1203-124G=
ENST00000677444.1:c.1802G=
ENST00000677586.1:n.1224G=
ENST00000677626.1:c.1506G=	ENSP00000503552.1:p.Ala502=
ENST00000677853.1:c.*865G=	ENSP00000503488.1:n.*865G=
ENST00000678202.1:n.1016G=
ENST00000678264.1:c.*1234G=	ENSP00000503157.1:n.*1234G=
ENST00000678303.1:c.1767G=	ENSP00000503696.1:p.Ala589=
ENST00000678366.1:c.*2106G=	ENSP00000504353.1:n.*2106G=
ENST00000678546.1:c.*1802G=	ENSP00000503062.1:n.*1802G=
ENST00000678548.1:c.*1996G=	ENSP00000503934.1:n.*1996G=
ENST00000678626.1:n.1693G=
ENST00000678739.1:c.*2147-124G=	ENSP00000503806.1:n.*2147-124G=
ENST00000678833.1:c.*1609G=	ENSP00000503893.1:n.*1609G=
ENST00000679023.1:c.1695G=	ENSP00000503718.1:p.Ala565=
ENST00000679076.1:c.1476G=
ENST00000679111.1:c.*613G=	ENSP00000504257.1:n.*613G=
ENST00000679189.1:c.1506G=	ENSP00000503356.1:p.Ala502=
ENST00000341012.11:c.1695G=	ENSP00000343034.7:p.Ala565=
ENST00000372220.4:c.720G=	ENSP00000361294.4:p.Ala240=
ENST00000372228.7:c.1923G=	ENSP00000361302.3:p.Ala641=
ENST00000402686.7:c.1857G=	ENSP00000385797.3:p.Ala619=
ENST00000404875.6:c.1506G=	ENSP00000384531.2:p.Ala502=
ENST00000423007.5:c.1857G=	ENSP00000404119.1:p.Ala619=
ENST00000485278.5:n.2407G=
ENST00000494883.1:n.400G=
NM_001077365.1:c.1857G=	NP_001070833.1:p.Ala619=
NM_001077366.1:c.1695G=	NP_001070834.1:p.Ala565=
NM_001136113.1:c.1857G=	NP_001129585.1:p.Ala619=
NM_001136114.1:c.1506G=	NP_001129586.1:p.Ala502=
NM_007171.3:c.1923G=	NP_009102.3:p.Ala641=
XM_005272156.1:c.1923G=	XP_005272213.1:p.Ala641=
XM_005272158.1:c.1761G=	XP_005272215.1:p.Ala587=
XM_005272159.1:c.1572G=	XP_005272216.1:p.Ala524=
XM_005272162.1:c.726G=	XP_005272219.1:p.Ala242=
XM_006716932.1:c.1572G=	XP_006716995.1:p.Ala524=
XM_011518140.1:c.1776G=	XP_011516442.1:p.Ala592=
XM_011518141.1:c.1710G=	XP_011516443.1:p.Ala570=
XM_011518142.1:c.1614G=	XP_011516444.1:p.Ala538=
XM_011518143.1:c.1608G=	XP_011516445.1:p.Ala536=
XM_011518145.1:c.1467G=	XP_011516447.1:p.Ala489=
XM_011518147.1:c.795G=	XP_011516449.1:p.Ala265=
XR_929703.1:n.2099G=
NM_001353193.1:c.1923G=	NP_001340122.1:p.Ala641=
NM_001353194.1:c.1695G=	NP_001340123.1:p.Ala565=
NM_001353195.1:c.1506G=	NP_001340124.1:p.Ala502=
NM_001353196.1:c.1767G=	NP_001340125.1:p.Ala589=
NM_001353197.1:c.1761G=	NP_001340126.1:p.Ala587=
NM_001353198.1:c.1761G=	NP_001340127.1:p.Ala587=
NM_001353199.1:c.1572G=	NP_001340128.1:p.Ala524=
NM_001353200.1:c.1401G=	NP_001340129.1:p.Ala467=
NR_148391.1:n.1907G=
NR_148392.1:n.2125G=
NR_148393.1:n.2046G=
NR_148394.1:n.1800G=
NR_148395.1:n.2198G=
NR_148396.1:n.1832G=
NR_148397.1:n.1957G=
NR_148398.1:n.1912G=
NR_148399.1:n.2438G=
NR_148400.1:n.2037G=
XM_005272162.3:c.726G=	XP_005272219.1:p.Ala242=
XM_006716932.2:c.1572G=	XP_006716995.1:p.Ala524=
XM_011518140.2:c.1776G=	XP_011516442.1:p.Ala592=
XM_011518141.2:c.1710G=	XP_011516443.1:p.Ala570=
XM_011518142.2:c.1614G=	XP_011516444.1:p.Ala538=
XM_011518143.2:c.1608G=	XP_011516445.1:p.Ala536=
XM_011518145.2:c.1467G=	XP_011516447.1:p.Ala489=
XM_017014205.2:c.726G=	XP_016869694.1:p.Ala242=
XM_024447380.1:c.726G=	XP_024303148.1:p.Ala242=
XM_024447381.1:c.1032G=	XP_024303149.1:p.Ala344=
XM_024447382.1:c.726G=	XP_024303150.1:p.Ala242=
XR_001746160.2:n.2027G=
XR_001746162.2:n.2232G=
XR_001746164.1:n.1949G=
XR_001746166.2:n.2244G=
NM_001077365.2:c.1857G= MANE Select	NP_001070833.1:p.Ala619=
NM_001077366.2:c.1695G=	NP_001070834.1:p.Ala565=
NM_001136113.2:c.1857G=	NP_001129585.1:p.Ala619=
NM_001136114.2:c.1506G=	NP_001129586.1:p.Ala502=
NM_001353193.2:c.1923G=	NP_001340122.2:p.Ala641=
NM_001353194.2:c.1695G=	NP_001340123.1:p.Ala565=
NM_001353195.2:c.1506G=	NP_001340124.1:p.Ala502=
NM_001353196.2:c.1767G=	NP_001340125.1:p.Ala589=
NM_001353197.2:c.1761G=	NP_001340126.2:p.Ala587=
NM_001353198.2:c.1761G=	NP_001340127.2:p.Ala587=
NM_001353199.2:c.1572G=	NP_001340128.2:p.Ala524=
NM_001353200.2:c.1401G=	NP_001340129.1:p.Ala467=
NM_001374689.1:c.1845G=	NP_001361618.1:p.Ala615=
NM_001374690.1:c.1638G=	NP_001361619.1:p.Ala546=
NM_001374691.1:c.1506G=	NP_001361620.1:p.Ala502=
NM_001374692.1:c.1506G=	NP_001361621.1:p.Ala502=
NM_001374693.1:c.1506G=	NP_001361622.1:p.Ala502=
NM_001374695.1:c.1467G=	NP_001361624.1:p.Ala489=
NM_007171.4:c.1923G=	NP_009102.4:p.Ala641=
NR_148391.2:n.1891G=
NR_148392.2:n.2109G=
NR_148393.2:n.2030G=
NR_148394.2:n.1784G=
NR_148395.2:n.2182G=
NR_148396.2:n.1816G=
NR_148397.2:n.1941G=
NR_148398.2:n.1896G=
NR_148399.2:n.2422G=
NR_148400.2:n.2021G=