Canonical Allele Identifier: CA1665838947

Gene: AHI1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.135290513T= , CM000668.2:g.135290513T=	GRCh38
NC_000006.11:g.135611651T= , CM000668.1:g.135611651T=	GRCh37
NC_000006.10:g.135653344T=	NCBI36
NG_008643.1:g.212253A=
NG_008643.2:g.212253A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265602.11:c.3498A= MANE Select	ENSP00000265602.6:p.Arg1166=
ENST00000498558.6:n.539A=
ENST00000527681.2:c.1167A=
ENST00000679434.1:c.5114A=	ENSP00000505592.1:n.5114A=
ENST00000679450.1:c.3237A=	ENSP00000506494.1:p.Arg1079=
ENST00000679490.1:n.2873A=
ENST00000679502.1:n.2361-4866A=
ENST00000679589.1:c.*3526A=	ENSP00000506644.1:n.*3526A=
ENST00000679668.1:c.5030A=	ENSP00000505364.1:n.5030A=
ENST00000679672.1:c.*1473A=	ENSP00000505697.1:n.*1473A=
ENST00000679711.1:c.1792A=
ENST00000679742.1:c.4896-4866A=	ENSP00000504890.1:n.4896-4866A=
ENST00000679890.1:n.1989A=
ENST00000679925.1:c.3486-4866A=	ENSP00000505502.1:n.3486-4866A=
ENST00000679943.1:c.3559A=	ENSP00000505663.1:n.3559A=
ENST00000680071.1:n.4271A=
ENST00000680119.1:c.3723A=	ENSP00000506403.1:n.3723A=
ENST00000680328.1:n.607A=
ENST00000680337.1:c.944-4866A=
ENST00000680561.1:n.6229-4866A=
ENST00000680826.1:c.3683A=	ENSP00000505224.1:n.3683A=
ENST00000680840.1:c.3726A=	ENSP00000505809.1:n.3726A=
ENST00000680965.1:c.*952A=	ENSP00000505398.1:n.*952A=
ENST00000681022.1:c.3498A=	ENSP00000505121.1:p.Arg1166=
ENST00000681057.1:n.2744-4866A=
ENST00000681196.1:n.4259-4866A=
ENST00000681301.1:c.3345A=	ENSP00000505093.1:p.Arg1115=
ENST00000681331.1:n.1227A=
ENST00000681332.1:n.4015A=
ENST00000681340.1:c.3498A=	ENSP00000505666.1:p.Arg1166=
ENST00000681365.1:c.3498A=	ENSP00000506604.1:p.Arg1166=
ENST00000681488.1:c.3367A=	ENSP00000505884.1:n.3367A=
ENST00000681522.1:c.3498A=	ENSP00000506005.1:p.Arg1166=
ENST00000681556.1:n.3632A=
ENST00000681718.1:c.*1985A=	ENSP00000505266.1:n.*1985A=
ENST00000681754.1:n.4186A=
ENST00000681828.1:c.5054A=	ENSP00000505608.1:n.5054A=
ENST00000681841.1:c.3498A=	ENSP00000504965.1:p.Arg1166=
ENST00000681860.1:c.3314A=	ENSP00000506250.1:n.3314A=
ENST00000265602.10:c.3498A=	ENSP00000265602.6:p.Arg1166=
ENST00000367799.6:c.1985-4866A=
ENST00000367800.8:c.3498A=	ENSP00000356774.4:p.Arg1166=
ENST00000457866.6:c.3498A=	ENSP00000388650.2:p.Arg1166=
ENST00000475846.6:c.1928A=
ENST00000487135.1:n.155-4866A=
ENST00000498558.5:n.347A=
ENST00000527681.1:c.107A=
NM_001134830.1:c.3498A=	NP_001128302.1:p.Arg1166=
NM_001134831.1:c.3498A=	NP_001128303.1:p.Arg1166=
NM_017651.4:c.3498A=	NP_060121.3:p.Arg1166=
XM_011535910.1:c.3498A=	XP_011534212.1:p.Arg1166=
XM_011535911.1:c.3498A=	XP_011534213.1:p.Arg1166=
XM_011535914.1:c.*19A=	XP_011534216.1:n.*19A=
XM_011535915.1:c.3486-4866A=	XP_011534217.1:n.3486-4866A=
XR_942488.1:n.5340A=
XR_942490.1:n.5328-4866A=
XR_942493.1:n.5201A=
XR_942494.1:n.5038A=
NM_001350503.1:c.3498A=	NP_001337432.1:p.Arg1166=
NM_001350504.1:c.3486-4866A=	NP_001337433.1:n.3486-4866A=
XM_011535910.3:c.3498A=	XP_011534212.1:p.Arg1166=
XM_011535911.3:c.3498A=	XP_011534213.1:p.Arg1166=
XM_017010980.2:c.*19A=	XP_016866469.1:n.*19A=
XM_017010981.2:c.3444A=	XP_016866470.1:p.Arg1148=
XM_024446479.1:c.3444A=	XP_024302247.1:p.Arg1148=
XR_001743479.2:n.5437A=
XR_001743480.2:n.4265A=
XR_001743481.2:n.4230A=
XR_001743482.2:n.4133A=
XR_001743483.2:n.5425-4866A=
XR_001743484.2:n.5298A=
XR_001743485.2:n.3994A=
XR_001743486.2:n.5286-4866A=
XR_001743487.2:n.5420A=
XR_001743488.1:n.5662A=
XR_001743489.2:n.5135A=
XR_001743490.2:n.4116A=
XR_002956286.1:n.3769A=
XR_002956287.1:n.3757-4866A=
NM_001134831.2:c.3498A= MANE Select	NP_001128303.1:p.Arg1166=
NM_001134830.2:c.3498A=	NP_001128302.1:p.Arg1166=
NM_001350503.2:c.3498A=	NP_001337432.1:p.Arg1166=
NM_001350504.2:c.3486-4866A=	NP_001337433.1:n.3486-4866A=
NM_017651.5:c.3498A=	NP_060121.3:p.Arg1166=