Canonical Allele Identifier: CA452341399

Gene: AHI1

Linked Data

• dbSNP Id: rs753932826
• gnomAD v4: 6-135290470-G-T
• MyVariant Identifiers: chr6:g.135611608G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.135290470G>T , CM000668.2:g.135290470G>T	GRCh38
NC_000006.11:g.135611608G>T , CM000668.1:g.135611608G>T	GRCh37
NC_000006.10:g.135653301G>T	NCBI36
NG_008643.1:g.212296C>A
NG_008643.2:g.212296C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265602.11:c.3541C>A MANE Select	ENSP00000265602.6:p.Arg1181=
ENST00000498558.6:n.582C>A
ENST00000527681.2:c.1210C>A
ENST00000679434.1:c.5157C>A	ENSP00000505592.1:n.5157C>A
ENST00000679450.1:c.3280C>A	ENSP00000506494.1:p.Arg1094=
ENST00000679490.1:n.2916C>A
ENST00000679502.1:n.2361-4823C>A
ENST00000679589.1:c.*3569C>A	ENSP00000506644.1:n.*3569C>A
ENST00000679668.1:c.5073C>A	ENSP00000505364.1:n.5073C>A
ENST00000679672.1:c.*1516C>A	ENSP00000505697.1:n.*1516C>A
ENST00000679711.1:c.1835C>A
ENST00000679742.1:c.4896-4823C>A	ENSP00000504890.1:n.4896-4823C>A
ENST00000679890.1:n.2032C>A
ENST00000679925.1:c.3486-4823C>A	ENSP00000505502.1:n.3486-4823C>A
ENST00000679943.1:c.3602C>A	ENSP00000505663.1:n.3602C>A
ENST00000680071.1:n.4314C>A
ENST00000680119.1:c.3766C>A	ENSP00000506403.1:n.3766C>A
ENST00000680328.1:n.650C>A
ENST00000680337.1:c.944-4823C>A
ENST00000680561.1:n.6229-4823C>A
ENST00000680826.1:c.3726C>A	ENSP00000505224.1:n.3726C>A
ENST00000680840.1:c.3769C>A	ENSP00000505809.1:n.3769C>A
ENST00000680965.1:c.*995C>A	ENSP00000505398.1:n.*995C>A
ENST00000681022.1:c.3541C>A	ENSP00000505121.1:p.Arg1181=
ENST00000681057.1:n.2744-4823C>A
ENST00000681196.1:n.4259-4823C>A
ENST00000681301.1:c.3388C>A	ENSP00000505093.1:p.Arg1130=
ENST00000681331.1:n.1270C>A
ENST00000681332.1:n.4058C>A
ENST00000681340.1:c.3541C>A	ENSP00000505666.1:p.Arg1181=
ENST00000681365.1:c.3541C>A	ENSP00000506604.1:p.Arg1181=
ENST00000681488.1:c.3410C>A	ENSP00000505884.1:n.3410C>A
ENST00000681522.1:c.3541C>A	ENSP00000506005.1:p.Arg1181=
ENST00000681556.1:n.3675C>A
ENST00000681718.1:c.*2028C>A	ENSP00000505266.1:n.*2028C>A
ENST00000681754.1:n.4229C>A
ENST00000681828.1:c.5097C>A	ENSP00000505608.1:n.5097C>A
ENST00000681841.1:c.3541C>A	ENSP00000504965.1:p.Arg1181=
ENST00000681860.1:c.3357C>A	ENSP00000506250.1:n.3357C>A
ENST00000265602.10:c.3541C>A	ENSP00000265602.6:p.Arg1181=
ENST00000367799.6:c.1985-4823C>A
ENST00000367800.8:c.3541C>A	ENSP00000356774.4:p.Arg1181=
ENST00000457866.6:c.3541C>A	ENSP00000388650.2:p.Arg1181=
ENST00000475846.6:c.1971C>A
ENST00000487135.1:n.155-4823C>A
ENST00000498558.5:n.390C>A
ENST00000527681.1:c.150C>A
NM_001134830.1:c.3541C>A	NP_001128302.1:p.Arg1181=
NM_001134831.1:c.3541C>A	NP_001128303.1:p.Arg1181=
NM_017651.4:c.3541C>A	NP_060121.3:p.Arg1181=
XM_011535910.1:c.3541C>A	XP_011534212.1:p.Arg1181=
XM_011535911.1:c.3541C>A	XP_011534213.1:p.Arg1181=
XM_011535914.1:c.*62C>A	XP_011534216.1:n.*62C>A
XM_011535915.1:c.3486-4823C>A	XP_011534217.1:n.3486-4823C>A
XR_942488.1:n.5383C>A
XR_942490.1:n.5328-4823C>A
XR_942493.1:n.5244C>A
XR_942494.1:n.5081C>A
NM_001350503.1:c.3541C>A	NP_001337432.1:p.Arg1181=
NM_001350504.1:c.3486-4823C>A	NP_001337433.1:n.3486-4823C>A
XM_011535910.3:c.3541C>A	XP_011534212.1:p.Arg1181=
XM_011535911.3:c.3541C>A	XP_011534213.1:p.Arg1181=
XM_017010980.2:c.*62C>A	XP_016866469.1:n.*62C>A
XM_017010981.2:c.3487C>A	XP_016866470.1:p.Arg1163=
XM_024446479.1:c.3487C>A	XP_024302247.1:p.Arg1163=
XR_001743479.2:n.5480C>A
XR_001743480.2:n.4308C>A
XR_001743481.2:n.4273C>A
XR_001743482.2:n.4176C>A
XR_001743483.2:n.5425-4823C>A
XR_001743484.2:n.5341C>A
XR_001743485.2:n.4037C>A
XR_001743486.2:n.5286-4823C>A
XR_001743487.2:n.5463C>A
XR_001743488.1:n.5705C>A
XR_001743489.2:n.5178C>A
XR_001743490.2:n.4159C>A
XR_002956286.1:n.3812C>A
XR_002956287.1:n.3757-4823C>A
NM_001134831.2:c.3541C>A MANE Select	NP_001128303.1:p.Arg1181=
NM_001134830.2:c.3541C>A	NP_001128302.1:p.Arg1181=
NM_001350503.2:c.3541C>A	NP_001337432.1:p.Arg1181=
NM_001350504.2:c.3486-4823C>A	NP_001337433.1:n.3486-4823C>A
NM_017651.5:c.3541C>A	NP_060121.3:p.Arg1181=