Canonical Allele Identifier: CA1881757981

Gene: POMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522049G= , CM000671.2:g.131522049G=	GRCh38
NC_000009.11:g.134397436G= , CM000671.1:g.134397436G=	GRCh37
NC_000009.10:g.133387257G=	NCBI36
NG_008896.1:g.24148G=
NG_008896.2:g.24148G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1666G=	ENSP00000343034.7:p.Ala556=
ENST00000404875.7:n.2368G=
ENST00000423007.6:c.1885G=	ENSP00000404119.2:p.Ala629=
ENST00000677295.2:c.*2172G=	ENSP00000504346.2:n.*2172G=
ENST00000678264.2:c.*2011G=	ENSP00000503157.2:n.*2011G=
ENST00000682070.1:n.2291-153G=
ENST00000682813.1:n.2232G=
ENST00000683392.1:n.4573-153G=
ENST00000683712.1:n.2233G=
ENST00000683900.1:n.3728G=
ENST00000684062.1:n.2494G=
ENST00000684579.1:n.3674G=
ENST00000684679.1:n.1055G=
ENST00000341012.12:c.1666G=	ENSP00000343034.7:p.Ala556=
ENST00000372220.5:c.697G=	ENSP00000361294.5:p.Ala233=
ENST00000372228.9:c.1894G=	ENSP00000361302.3:p.Ala632=
ENST00000402686.8:c.1828G= MANE Select	ENSP00000385797.4:p.Ala610=
ENST00000676640.1:c.1828G=	ENSP00000503281.1:p.Ala610=
ENST00000676803.1:c.889G=	ENSP00000503093.1:p.Ala297=
ENST00000676835.1:c.*1043G=	ENSP00000502911.1:n.*1043G=
ENST00000677029.1:c.1372G=	ENSP00000502936.1:p.Ala458=
ENST00000677099.1:c.*1538G=	ENSP00000504553.1:n.*1538G=
ENST00000677216.1:c.1477G=	ENSP00000503772.1:p.Ala493=
ENST00000677221.1:n.853G=
ENST00000677295.1:c.*1203-153G=	ENSP00000504346.1:n.*1203-153G=
ENST00000677444.1:c.1773G=
ENST00000677586.1:n.1195G=
ENST00000677626.1:c.1477G=	ENSP00000503552.1:p.Ala493=
ENST00000677853.1:c.*836G=	ENSP00000503488.1:n.*836G=
ENST00000678202.1:n.987G=
ENST00000678264.1:c.*1205G=	ENSP00000503157.1:n.*1205G=
ENST00000678303.1:c.1738G=	ENSP00000503696.1:p.Ala580=
ENST00000678366.1:c.*2077G=	ENSP00000504353.1:n.*2077G=
ENST00000678546.1:c.*1773G=	ENSP00000503062.1:n.*1773G=
ENST00000678548.1:c.*1967G=	ENSP00000503934.1:n.*1967G=
ENST00000678626.1:n.1664G=
ENST00000678739.1:c.*2147-153G=	ENSP00000503806.1:n.*2147-153G=
ENST00000678833.1:c.*1580G=	ENSP00000503893.1:n.*1580G=
ENST00000679023.1:c.1666G=	ENSP00000503718.1:p.Ala556=
ENST00000679076.1:c.1447G=
ENST00000679111.1:c.*584G=	ENSP00000504257.1:n.*584G=
ENST00000679189.1:c.1477G=	ENSP00000503356.1:p.Ala493=
ENST00000341012.11:c.1666G=	ENSP00000343034.7:p.Ala556=
ENST00000372220.4:c.691G=	ENSP00000361294.4:p.Ala231=
ENST00000372228.7:c.1894G=	ENSP00000361302.3:p.Ala632=
ENST00000402686.7:c.1828G=	ENSP00000385797.3:p.Ala610=
ENST00000404875.6:c.1477G=	ENSP00000384531.2:p.Ala493=
ENST00000423007.5:c.1828G=	ENSP00000404119.1:p.Ala610=
ENST00000485278.5:n.2378G=
ENST00000494883.1:n.371G=
NM_001077365.1:c.1828G=	NP_001070833.1:p.Ala610=
NM_001077366.1:c.1666G=	NP_001070834.1:p.Ala556=
NM_001136113.1:c.1828G=	NP_001129585.1:p.Ala610=
NM_001136114.1:c.1477G=	NP_001129586.1:p.Ala493=
NM_007171.3:c.1894G=	NP_009102.3:p.Ala632=
XM_005272156.1:c.1894G=	XP_005272213.1:p.Ala632=
XM_005272158.1:c.1732G=	XP_005272215.1:p.Ala578=
XM_005272159.1:c.1543G=	XP_005272216.1:p.Ala515=
XM_005272162.1:c.697G=	XP_005272219.1:p.Ala233=
XM_006716932.1:c.1543G=	XP_006716995.1:p.Ala515=
XM_011518140.1:c.1747G=	XP_011516442.1:p.Ala583=
XM_011518141.1:c.1681G=	XP_011516443.1:p.Ala561=
XM_011518142.1:c.1585G=	XP_011516444.1:p.Ala529=
XM_011518143.1:c.1579G=	XP_011516445.1:p.Ala527=
XM_011518145.1:c.1438G=	XP_011516447.1:p.Ala480=
XM_011518147.1:c.766G=	XP_011516449.1:p.Ala256=
XR_929703.1:n.2070G=
NM_001353193.1:c.1894G=	NP_001340122.1:p.Ala632=
NM_001353194.1:c.1666G=	NP_001340123.1:p.Ala556=
NM_001353195.1:c.1477G=	NP_001340124.1:p.Ala493=
NM_001353196.1:c.1738G=	NP_001340125.1:p.Ala580=
NM_001353197.1:c.1732G=	NP_001340126.1:p.Ala578=
NM_001353198.1:c.1732G=	NP_001340127.1:p.Ala578=
NM_001353199.1:c.1543G=	NP_001340128.1:p.Ala515=
NM_001353200.1:c.1372G=	NP_001340129.1:p.Ala458=
NR_148391.1:n.1878G=
NR_148392.1:n.2096G=
NR_148393.1:n.2017G=
NR_148394.1:n.1771G=
NR_148395.1:n.2169G=
NR_148396.1:n.1803G=
NR_148397.1:n.1928G=
NR_148398.1:n.1883G=
NR_148399.1:n.2409G=
NR_148400.1:n.2008G=
XM_005272162.3:c.697G=	XP_005272219.1:p.Ala233=
XM_006716932.2:c.1543G=	XP_006716995.1:p.Ala515=
XM_011518140.2:c.1747G=	XP_011516442.1:p.Ala583=
XM_011518141.2:c.1681G=	XP_011516443.1:p.Ala561=
XM_011518142.2:c.1585G=	XP_011516444.1:p.Ala529=
XM_011518143.2:c.1579G=	XP_011516445.1:p.Ala527=
XM_011518145.2:c.1438G=	XP_011516447.1:p.Ala480=
XM_017014205.2:c.697G=	XP_016869694.1:p.Ala233=
XM_024447380.1:c.697G=	XP_024303148.1:p.Ala233=
XM_024447381.1:c.1003G=	XP_024303149.1:p.Ala335=
XM_024447382.1:c.697G=	XP_024303150.1:p.Ala233=
XR_001746160.2:n.1998G=
XR_001746162.2:n.2203G=
XR_001746164.1:n.1920G=
XR_001746166.2:n.2215G=
NM_001077365.2:c.1828G= MANE Select	NP_001070833.1:p.Ala610=
NM_001077366.2:c.1666G=	NP_001070834.1:p.Ala556=
NM_001136113.2:c.1828G=	NP_001129585.1:p.Ala610=
NM_001136114.2:c.1477G=	NP_001129586.1:p.Ala493=
NM_001353193.2:c.1894G=	NP_001340122.2:p.Ala632=
NM_001353194.2:c.1666G=	NP_001340123.1:p.Ala556=
NM_001353195.2:c.1477G=	NP_001340124.1:p.Ala493=
NM_001353196.2:c.1738G=	NP_001340125.1:p.Ala580=
NM_001353197.2:c.1732G=	NP_001340126.2:p.Ala578=
NM_001353198.2:c.1732G=	NP_001340127.2:p.Ala578=
NM_001353199.2:c.1543G=	NP_001340128.2:p.Ala515=
NM_001353200.2:c.1372G=	NP_001340129.1:p.Ala458=
NM_001374689.1:c.1816G=	NP_001361618.1:p.Ala606=
NM_001374690.1:c.1609G=	NP_001361619.1:p.Ala537=
NM_001374691.1:c.1477G=	NP_001361620.1:p.Ala493=
NM_001374692.1:c.1477G=	NP_001361621.1:p.Ala493=
NM_001374693.1:c.1477G=	NP_001361622.1:p.Ala493=
NM_001374695.1:c.1438G=	NP_001361624.1:p.Ala480=
NM_007171.4:c.1894G=	NP_009102.4:p.Ala632=
NR_148391.2:n.1862G=
NR_148392.2:n.2080G=
NR_148393.2:n.2001G=
NR_148394.2:n.1755G=
NR_148395.2:n.2153G=
NR_148396.2:n.1787G=
NR_148397.2:n.1912G=
NR_148398.2:n.1867G=
NR_148399.2:n.2393G=
NR_148400.2:n.1992G=