Canonical Allele Identifier: CA365840644

Gene: AHI1

Linked Data

• dbSNP Id: rs1782196783
• gnomAD v4: 6-135290436-A-T
• MyVariant Identifiers: chr6:g.135611574A>T (hg19) ; chr6:g.135290436A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.135290436A>T , CM000668.2:g.135290436A>T	GRCh38
NC_000006.11:g.135611574A>T , CM000668.1:g.135611574A>T	GRCh37
NC_000006.10:g.135653267A>T	NCBI36
NG_008643.1:g.212330T>A
NG_008643.2:g.212330T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265602.11:c.3575T>A MANE Select	ENSP00000265602.6:p.Val1192Asp
ENST00000498558.6:n.616T>A
ENST00000527681.2:c.1244T>A
ENST00000679434.1:c.5191T>A	ENSP00000505592.1:n.5191T>A
ENST00000679450.1:c.3314T>A	ENSP00000506494.1:p.Val1105Asp
ENST00000679490.1:n.2950T>A
ENST00000679502.1:n.2361-4789T>A
ENST00000679589.1:c.*3603T>A	ENSP00000506644.1:n.*3603T>A
ENST00000679668.1:c.5107T>A	ENSP00000505364.1:n.5107T>A
ENST00000679672.1:c.*1550T>A	ENSP00000505697.1:n.*1550T>A
ENST00000679711.1:c.1869T>A
ENST00000679742.1:c.4896-4789T>A	ENSP00000504890.1:n.4896-4789T>A
ENST00000679890.1:n.2066T>A
ENST00000679925.1:c.3486-4789T>A	ENSP00000505502.1:n.3486-4789T>A
ENST00000679943.1:c.3636T>A	ENSP00000505663.1:n.3636T>A
ENST00000680071.1:n.4348T>A
ENST00000680119.1:c.3800T>A	ENSP00000506403.1:n.3800T>A
ENST00000680328.1:n.684T>A
ENST00000680337.1:c.944-4789T>A
ENST00000680561.1:n.6229-4789T>A
ENST00000680826.1:c.3760T>A	ENSP00000505224.1:n.3760T>A
ENST00000680840.1:c.3803T>A	ENSP00000505809.1:n.3803T>A
ENST00000680965.1:c.*1029T>A	ENSP00000505398.1:n.*1029T>A
ENST00000681022.1:c.3575T>A	ENSP00000505121.1:p.Val1192Asp
ENST00000681057.1:n.2744-4789T>A
ENST00000681196.1:n.4259-4789T>A
ENST00000681301.1:c.3422T>A	ENSP00000505093.1:p.Val1141Asp
ENST00000681331.1:n.1304T>A
ENST00000681332.1:n.4092T>A
ENST00000681340.1:c.3575T>A	ENSP00000505666.1:p.Val1192Asp
ENST00000681365.1:c.3575T>A	ENSP00000506604.1:p.Val1192Asp
ENST00000681488.1:c.3444T>A	ENSP00000505884.1:n.3444T>A
ENST00000681522.1:c.3575T>A	ENSP00000506005.1:p.Val1192Asp
ENST00000681556.1:n.3709T>A
ENST00000681718.1:c.*2062T>A	ENSP00000505266.1:n.*2062T>A
ENST00000681754.1:n.4263T>A
ENST00000681828.1:c.5131T>A	ENSP00000505608.1:n.5131T>A
ENST00000681841.1:c.3575T>A	ENSP00000504965.1:p.Val1192Asp
ENST00000681860.1:c.3391T>A	ENSP00000506250.1:n.3391T>A
ENST00000265602.10:c.3575T>A	ENSP00000265602.6:p.Val1192Asp
ENST00000367799.6:c.1985-4789T>A
ENST00000367800.8:c.3575T>A	ENSP00000356774.4:p.Val1192Asp
ENST00000457866.6:c.3575T>A	ENSP00000388650.2:p.Val1192Asp
ENST00000475846.6:c.2005T>A
ENST00000487135.1:n.155-4789T>A
ENST00000498558.5:n.424T>A
ENST00000527681.1:c.184T>A
NM_001134830.1:c.3575T>A	NP_001128302.1:p.Val1192Asp
NM_001134831.1:c.3575T>A	NP_001128303.1:p.Val1192Asp
NM_017651.4:c.3575T>A	NP_060121.3:p.Val1192Asp
XM_011535910.1:c.3575T>A	XP_011534212.1:p.Val1192Asp
XM_011535911.1:c.3575T>A	XP_011534213.1:p.Val1192Asp
XM_011535915.1:c.3486-4789T>A	XP_011534217.1:n.3486-4789T>A
XR_942488.1:n.5417T>A
XR_942490.1:n.5328-4789T>A
XR_942493.1:n.5278T>A
XR_942494.1:n.5115T>A
NM_001350503.1:c.3575T>A	NP_001337432.1:p.Val1192Asp
NM_001350504.1:c.3486-4789T>A	NP_001337433.1:n.3486-4789T>A
XM_011535910.3:c.3575T>A	XP_011534212.1:p.Val1192Asp
XM_011535911.3:c.3575T>A	XP_011534213.1:p.Val1192Asp
XM_017010980.2:c.*96T>A	XP_016866469.1:n.*96T>A
XM_017010981.2:c.3521T>A	XP_016866470.1:p.Val1174Asp
XM_024446479.1:c.3521T>A	XP_024302247.1:p.Val1174Asp
XR_001743479.2:n.5514T>A
XR_001743480.2:n.4342T>A
XR_001743481.2:n.4307T>A
XR_001743482.2:n.4210T>A
XR_001743483.2:n.5425-4789T>A
XR_001743484.2:n.5375T>A
XR_001743485.2:n.4071T>A
XR_001743486.2:n.5286-4789T>A
XR_001743487.2:n.5497T>A
XR_001743488.1:n.5739T>A
XR_001743489.2:n.5212T>A
XR_001743490.2:n.4193T>A
XR_002956286.1:n.3846T>A
XR_002956287.1:n.3757-4789T>A
NM_001134831.2:c.3575T>A MANE Select	NP_001128303.1:p.Val1192Asp
NM_001134830.2:c.3575T>A	NP_001128302.1:p.Val1192Asp
NM_001350503.2:c.3575T>A	NP_001337432.1:p.Val1192Asp
NM_001350504.2:c.3486-4789T>A	NP_001337433.1:n.3486-4789T>A
NM_017651.5:c.3575T>A	NP_060121.3:p.Val1192Asp