Canonical Allele Identifier: CA4012000

Gene: AHI1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.135300545T>C , CM000668.2:g.135300545T>C	GRCh38
NC_000006.11:g.135621683T>C , CM000668.1:g.135621683T>C	GRCh37
NC_000006.10:g.135663376T>C	NCBI36
NG_008643.1:g.202221A>G
NG_008643.2:g.202221A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001134831.2:c.3440A>G MANE Select	NP_001128303.1:p.Lys1147Arg
ENST00000265602.11:c.3440A>G MANE Select	ENSP00000265602.6:p.Lys1147Arg
NM_001134830.1:c.3440A>G	NP_001128302.1:p.Lys1147Arg
NM_001134830.2:c.3440A>G	NP_001128302.1:p.Lys1147Arg
NM_001134831.1:c.3440A>G	NP_001128303.1:p.Lys1147Arg
NM_001350503.1:c.3440A>G	NP_001337432.1:p.Lys1147Arg
NM_001350503.2:c.3440A>G	NP_001337432.1:p.Lys1147Arg
NM_001350504.1:c.3440A>G	NP_001337433.1:p.Lys1147Arg
NM_001350504.2:c.3440A>G	NP_001337433.1:p.Lys1147Arg
NM_017651.4:c.3440A>G	NP_060121.3:p.Lys1147Arg
NM_017651.5:c.3440A>G	NP_060121.3:p.Lys1147Arg
ENST00000265602.10:c.3440A>G	ENSP00000265602.6:p.Lys1147Arg
ENST00000367799.6:c.1939A>G
ENST00000367800.8:c.3440A>G	ENSP00000356774.4:p.Lys1147Arg
ENST00000457866.6:c.3440A>G	ENSP00000388650.2:p.Lys1147Arg
ENST00000475846.6:c.1870A>G
ENST00000487135.1:n.109A>G
ENST00000498558.5:n.289A>G
ENST00000498558.6:n.420A>G
ENST00000527681.2:c.1109A>G
ENST00000679434.1:c.5035A>G	ENSP00000505592.1:n.5035A>G
ENST00000679450.1:c.3179A>G	ENSP00000506494.1:p.Lys1060Arg
ENST00000679502.1:n.2315A>G
ENST00000679589.1:c.*3468A>G	ENSP00000506644.1:n.*3468A>G
ENST00000679668.1:c.4972A>G	ENSP00000505364.1:n.4972A>G
ENST00000679672.1:c.*1415A>G	ENSP00000505697.1:n.*1415A>G
ENST00000679711.1:c.1734A>G
ENST00000679742.1:c.4850A>G	ENSP00000504890.1:n.4850A>G
ENST00000679890.1:n.1931A>G
ENST00000679925.1:c.3440A>G	ENSP00000505502.1:p.Lys1147Arg
ENST00000679943.1:c.3440A>G	ENSP00000505663.1:p.Lys1147Arg
ENST00000680071.1:n.4213A>G
ENST00000680119.1:c.3665A>G	ENSP00000506403.1:n.3665A>G
ENST00000680328.1:n.549A>G
ENST00000680337.1:c.898A>G
ENST00000680561.1:n.6183A>G
ENST00000680826.1:c.3625A>G	ENSP00000505224.1:n.3625A>G
ENST00000680840.1:c.3668A>G	ENSP00000505809.1:n.3668A>G
ENST00000680965.1:c.*894A>G	ENSP00000505398.1:n.*894A>G
ENST00000681022.1:c.3440A>G	ENSP00000505121.1:p.Lys1147Arg
ENST00000681057.1:n.2744-14898A>G
ENST00000681196.1:n.4213A>G
ENST00000681301.1:c.3287A>G	ENSP00000505093.1:p.Lys1096Arg
ENST00000681331.1:n.1169A>G
ENST00000681332.1:n.3957A>G
ENST00000681340.1:c.3440A>G	ENSP00000505666.1:p.Lys1147Arg
ENST00000681365.1:c.3440A>G	ENSP00000506604.1:p.Lys1147Arg
ENST00000681488.1:c.3309A>G	ENSP00000505884.1:n.3309A>G
ENST00000681522.1:c.3440A>G	ENSP00000506005.1:p.Lys1147Arg
ENST00000681556.1:n.3574A>G
ENST00000681718.1:c.*1927A>G	ENSP00000505266.1:n.*1927A>G
ENST00000681754.1:n.4128A>G
ENST00000681828.1:c.4996A>G	ENSP00000505608.1:n.4996A>G
ENST00000681841.1:c.3440A>G	ENSP00000504965.1:p.Lys1147Arg
ENST00000681860.1:c.3256A>G	ENSP00000506250.1:n.3256A>G
XM_011535910.1:c.3440A>G	XP_011534212.1:p.Lys1147Arg
XM_011535910.3:c.3440A>G	XP_011534212.1:p.Lys1147Arg
XM_011535911.1:c.3440A>G	XP_011534213.1:p.Lys1147Arg
XM_011535911.3:c.3440A>G	XP_011534213.1:p.Lys1147Arg
XM_011535912.1:c.*18A>G	XP_011534214.1:n.*18A>G
XM_011535914.1:c.3440A>G	XP_011534216.1:p.Lys1147Arg
XM_011535915.1:c.3440A>G	XP_011534217.1:p.Lys1147Arg
XM_017010978.2:c.*18A>G	XP_016866467.1:n.*18A>G
XM_017010980.2:c.3440A>G	XP_016866469.1:p.Lys1147Arg
XM_017010981.2:c.3386A>G	XP_016866470.1:p.Lys1129Arg
XM_024446479.1:c.3386A>G	XP_024302247.1:p.Lys1129Arg
XR_001743479.2:n.5379A>G
XR_001743480.2:n.4207A>G
XR_001743481.2:n.4172A>G
XR_001743482.2:n.4075A>G
XR_001743483.2:n.5379A>G
XR_001743484.2:n.5240A>G
XR_001743485.2:n.3936A>G
XR_001743486.2:n.5240A>G
XR_001743487.2:n.5362A>G
XR_001743488.1:n.5604A>G
XR_001743489.2:n.5077A>G
XR_001743490.2:n.4058A>G
XR_002956286.1:n.3711A>G
XR_002956287.1:n.3711A>G
XR_942488.1:n.5282A>G
XR_942489.1:n.5282A>G
XR_942490.1:n.5282A>G
XR_942491.1:n.3978A>G
XR_942493.1:n.5143A>G
XR_942494.1:n.4980A>G