Canonical Allele Identifier: CA1881758125

Gene: POMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522104A= , CM000671.2:g.131522104A=	GRCh38
NC_000009.11:g.134397491A= , CM000671.1:g.134397491A=	GRCh37
NC_000009.10:g.133387312A=	NCBI36
NG_008896.1:g.24203A=
NG_008896.2:g.24203A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1721A=	ENSP00000343034.7:p.Asn574=
ENST00000404875.7:n.2423A=
ENST00000423007.6:c.1940A=	ENSP00000404119.2:p.Asn647=
ENST00000677295.2:c.*2227A=	ENSP00000504346.2:n.*2227A=
ENST00000678264.2:c.*2066A=	ENSP00000503157.2:n.*2066A=
ENST00000682070.1:n.2291-98A=
ENST00000682813.1:n.2287A=
ENST00000683392.1:n.4573-98A=
ENST00000683712.1:n.2288A=
ENST00000683900.1:n.3783A=
ENST00000684062.1:n.2549A=
ENST00000684579.1:n.3729A=
ENST00000684679.1:n.1110A=
ENST00000341012.12:c.1721A=	ENSP00000343034.7:p.Asn574=
ENST00000372220.5:c.752A=	ENSP00000361294.5:p.Asn251=
ENST00000372228.9:c.1949A=	ENSP00000361302.3:p.Asn650=
ENST00000402686.8:c.1883A= MANE Select	ENSP00000385797.4:p.Asn628=
ENST00000676640.1:c.1883A=	ENSP00000503281.1:p.Asn628=
ENST00000676803.1:c.944A=	ENSP00000503093.1:p.Asn315=
ENST00000676835.1:c.*1098A=	ENSP00000502911.1:n.*1098A=
ENST00000677029.1:c.1427A=	ENSP00000502936.1:p.Asn476=
ENST00000677099.1:c.*1593A=	ENSP00000504553.1:n.*1593A=
ENST00000677216.1:c.1532A=	ENSP00000503772.1:p.Asn511=
ENST00000677221.1:n.908A=
ENST00000677295.1:c.*1203-98A=	ENSP00000504346.1:n.*1203-98A=
ENST00000677444.1:c.1828A=
ENST00000677586.1:n.1250A=
ENST00000677626.1:c.1532A=	ENSP00000503552.1:p.Asn511=
ENST00000677853.1:c.*891A=	ENSP00000503488.1:n.*891A=
ENST00000678202.1:n.1042A=
ENST00000678264.1:c.*1260A=	ENSP00000503157.1:n.*1260A=
ENST00000678303.1:c.1793A=	ENSP00000503696.1:p.Asn598=
ENST00000678366.1:c.*2132A=	ENSP00000504353.1:n.*2132A=
ENST00000678546.1:c.*1828A=	ENSP00000503062.1:n.*1828A=
ENST00000678548.1:c.*2022A=	ENSP00000503934.1:n.*2022A=
ENST00000678626.1:n.1719A=
ENST00000678739.1:c.*2147-98A=	ENSP00000503806.1:n.*2147-98A=
ENST00000678833.1:c.*1635A=	ENSP00000503893.1:n.*1635A=
ENST00000679023.1:c.1721A=	ENSP00000503718.1:p.Asn574=
ENST00000679076.1:c.1502A=
ENST00000679111.1:c.*639A=	ENSP00000504257.1:n.*639A=
ENST00000679189.1:c.1532A=	ENSP00000503356.1:p.Asn511=
ENST00000341012.11:c.1721A=	ENSP00000343034.7:p.Asn574=
ENST00000372220.4:c.746A=	ENSP00000361294.4:p.Asn249=
ENST00000372228.7:c.1949A=	ENSP00000361302.3:p.Asn650=
ENST00000402686.7:c.1883A=	ENSP00000385797.3:p.Asn628=
ENST00000404875.6:c.1532A=	ENSP00000384531.2:p.Asn511=
ENST00000423007.5:c.1883A=	ENSP00000404119.1:p.Asn628=
ENST00000485278.5:n.2433A=
ENST00000494883.1:n.426A=
NM_001077365.1:c.1883A=	NP_001070833.1:p.Asn628=
NM_001077366.1:c.1721A=	NP_001070834.1:p.Asn574=
NM_001136113.1:c.1883A=	NP_001129585.1:p.Asn628=
NM_001136114.1:c.1532A=	NP_001129586.1:p.Asn511=
NM_007171.3:c.1949A=	NP_009102.3:p.Asn650=
XM_005272156.1:c.1949A=	XP_005272213.1:p.Asn650=
XM_005272158.1:c.1787A=	XP_005272215.1:p.Asn596=
XM_005272159.1:c.1598A=	XP_005272216.1:p.Asn533=
XM_005272162.1:c.752A=	XP_005272219.1:p.Asn251=
XM_006716932.1:c.1598A=	XP_006716995.1:p.Asn533=
XM_011518140.1:c.1802A=	XP_011516442.1:p.Asn601=
XM_011518141.1:c.1736A=	XP_011516443.1:p.Asn579=
XM_011518142.1:c.1640A=	XP_011516444.1:p.Asn547=
XM_011518143.1:c.1634A=	XP_011516445.1:p.Asn545=
XM_011518145.1:c.1493A=	XP_011516447.1:p.Asn498=
XM_011518147.1:c.821A=	XP_011516449.1:p.Asn274=
XR_929703.1:n.2125A=
NM_001353193.1:c.1949A=	NP_001340122.1:p.Asn650=
NM_001353194.1:c.1721A=	NP_001340123.1:p.Asn574=
NM_001353195.1:c.1532A=	NP_001340124.1:p.Asn511=
NM_001353196.1:c.1793A=	NP_001340125.1:p.Asn598=
NM_001353197.1:c.1787A=	NP_001340126.1:p.Asn596=
NM_001353198.1:c.1787A=	NP_001340127.1:p.Asn596=
NM_001353199.1:c.1598A=	NP_001340128.1:p.Asn533=
NM_001353200.1:c.1427A=	NP_001340129.1:p.Asn476=
NR_148391.1:n.1933A=
NR_148392.1:n.2151A=
NR_148393.1:n.2072A=
NR_148394.1:n.1826A=
NR_148395.1:n.2224A=
NR_148396.1:n.1858A=
NR_148397.1:n.1983A=
NR_148398.1:n.1938A=
NR_148399.1:n.2464A=
NR_148400.1:n.2063A=
XM_005272162.3:c.752A=	XP_005272219.1:p.Asn251=
XM_006716932.2:c.1598A=	XP_006716995.1:p.Asn533=
XM_011518140.2:c.1802A=	XP_011516442.1:p.Asn601=
XM_011518141.2:c.1736A=	XP_011516443.1:p.Asn579=
XM_011518142.2:c.1640A=	XP_011516444.1:p.Asn547=
XM_011518143.2:c.1634A=	XP_011516445.1:p.Asn545=
XM_011518145.2:c.1493A=	XP_011516447.1:p.Asn498=
XM_017014205.2:c.752A=	XP_016869694.1:p.Asn251=
XM_024447380.1:c.752A=	XP_024303148.1:p.Asn251=
XM_024447381.1:c.1058A=	XP_024303149.1:p.Asn353=
XM_024447382.1:c.752A=	XP_024303150.1:p.Asn251=
XR_001746160.2:n.2053A=
XR_001746162.2:n.2258A=
XR_001746164.1:n.1975A=
XR_001746166.2:n.2270A=
NM_001077365.2:c.1883A= MANE Select	NP_001070833.1:p.Asn628=
NM_001077366.2:c.1721A=	NP_001070834.1:p.Asn574=
NM_001136113.2:c.1883A=	NP_001129585.1:p.Asn628=
NM_001136114.2:c.1532A=	NP_001129586.1:p.Asn511=
NM_001353193.2:c.1949A=	NP_001340122.2:p.Asn650=
NM_001353194.2:c.1721A=	NP_001340123.1:p.Asn574=
NM_001353195.2:c.1532A=	NP_001340124.1:p.Asn511=
NM_001353196.2:c.1793A=	NP_001340125.1:p.Asn598=
NM_001353197.2:c.1787A=	NP_001340126.2:p.Asn596=
NM_001353198.2:c.1787A=	NP_001340127.2:p.Asn596=
NM_001353199.2:c.1598A=	NP_001340128.2:p.Asn533=
NM_001353200.2:c.1427A=	NP_001340129.1:p.Asn476=
NM_001374689.1:c.1871A=	NP_001361618.1:p.Asn624=
NM_001374690.1:c.1664A=	NP_001361619.1:p.Asn555=
NM_001374691.1:c.1532A=	NP_001361620.1:p.Asn511=
NM_001374692.1:c.1532A=	NP_001361621.1:p.Asn511=
NM_001374693.1:c.1532A=	NP_001361622.1:p.Asn511=
NM_001374695.1:c.1493A=	NP_001361624.1:p.Asn498=
NM_007171.4:c.1949A=	NP_009102.4:p.Asn650=
NR_148391.2:n.1917A=
NR_148392.2:n.2135A=
NR_148393.2:n.2056A=
NR_148394.2:n.1810A=
NR_148395.2:n.2208A=
NR_148396.2:n.1842A=
NR_148397.2:n.1967A=
NR_148398.2:n.1922A=
NR_148399.2:n.2448A=
NR_148400.2:n.2047A=