Canonical Allele Identifier: CA365840778

Gene: AHI1

Linked Data

• MyVariant Identifiers: chr6:g.135611622T>A (hg19) ; chr6:g.135290484T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.135290484T>A , CM000668.2:g.135290484T>A	GRCh38
NC_000006.11:g.135611622T>A , CM000668.1:g.135611622T>A	GRCh37
NC_000006.10:g.135653315T>A	NCBI36
NG_008643.1:g.212282A>T
NG_008643.2:g.212282A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265602.11:c.3527A>T MANE Select	ENSP00000265602.6:p.His1176Leu
ENST00000498558.6:n.568A>T
ENST00000527681.2:c.1196A>T
ENST00000679434.1:c.5143A>T	ENSP00000505592.1:n.5143A>T
ENST00000679450.1:c.3266A>T	ENSP00000506494.1:p.His1089Leu
ENST00000679490.1:n.2902A>T
ENST00000679502.1:n.2361-4837A>T
ENST00000679589.1:c.*3555A>T	ENSP00000506644.1:n.*3555A>T
ENST00000679668.1:c.5059A>T	ENSP00000505364.1:n.5059A>T
ENST00000679672.1:c.*1502A>T	ENSP00000505697.1:n.*1502A>T
ENST00000679711.1:c.1821A>T
ENST00000679742.1:c.4896-4837A>T	ENSP00000504890.1:n.4896-4837A>T
ENST00000679890.1:n.2018A>T
ENST00000679925.1:c.3486-4837A>T	ENSP00000505502.1:n.3486-4837A>T
ENST00000679943.1:c.3588A>T	ENSP00000505663.1:n.3588A>T
ENST00000680071.1:n.4300A>T
ENST00000680119.1:c.3752A>T	ENSP00000506403.1:n.3752A>T
ENST00000680328.1:n.636A>T
ENST00000680337.1:c.944-4837A>T
ENST00000680561.1:n.6229-4837A>T
ENST00000680826.1:c.3712A>T	ENSP00000505224.1:n.3712A>T
ENST00000680840.1:c.3755A>T	ENSP00000505809.1:n.3755A>T
ENST00000680965.1:c.*981A>T	ENSP00000505398.1:n.*981A>T
ENST00000681022.1:c.3527A>T	ENSP00000505121.1:p.His1176Leu
ENST00000681057.1:n.2744-4837A>T
ENST00000681196.1:n.4259-4837A>T
ENST00000681301.1:c.3374A>T	ENSP00000505093.1:p.His1125Leu
ENST00000681331.1:n.1256A>T
ENST00000681332.1:n.4044A>T
ENST00000681340.1:c.3527A>T	ENSP00000505666.1:p.His1176Leu
ENST00000681365.1:c.3527A>T	ENSP00000506604.1:p.His1176Leu
ENST00000681488.1:c.3396A>T	ENSP00000505884.1:n.3396A>T
ENST00000681522.1:c.3527A>T	ENSP00000506005.1:p.His1176Leu
ENST00000681556.1:n.3661A>T
ENST00000681718.1:c.*2014A>T	ENSP00000505266.1:n.*2014A>T
ENST00000681754.1:n.4215A>T
ENST00000681828.1:c.5083A>T	ENSP00000505608.1:n.5083A>T
ENST00000681841.1:c.3527A>T	ENSP00000504965.1:p.His1176Leu
ENST00000681860.1:c.3343A>T	ENSP00000506250.1:n.3343A>T
ENST00000265602.10:c.3527A>T	ENSP00000265602.6:p.His1176Leu
ENST00000367799.6:c.1985-4837A>T
ENST00000367800.8:c.3527A>T	ENSP00000356774.4:p.His1176Leu
ENST00000457866.6:c.3527A>T	ENSP00000388650.2:p.His1176Leu
ENST00000475846.6:c.1957A>T
ENST00000487135.1:n.155-4837A>T
ENST00000498558.5:n.376A>T
ENST00000527681.1:c.136A>T
NM_001134830.1:c.3527A>T	NP_001128302.1:p.His1176Leu
NM_001134831.1:c.3527A>T	NP_001128303.1:p.His1176Leu
NM_017651.4:c.3527A>T	NP_060121.3:p.His1176Leu
XM_011535910.1:c.3527A>T	XP_011534212.1:p.His1176Leu
XM_011535911.1:c.3527A>T	XP_011534213.1:p.His1176Leu
XM_011535914.1:c.*48A>T	XP_011534216.1:n.*48A>T
XM_011535915.1:c.3486-4837A>T	XP_011534217.1:n.3486-4837A>T
XR_942488.1:n.5369A>T
XR_942490.1:n.5328-4837A>T
XR_942493.1:n.5230A>T
XR_942494.1:n.5067A>T
NM_001350503.1:c.3527A>T	NP_001337432.1:p.His1176Leu
NM_001350504.1:c.3486-4837A>T	NP_001337433.1:n.3486-4837A>T
XM_011535910.3:c.3527A>T	XP_011534212.1:p.His1176Leu
XM_011535911.3:c.3527A>T	XP_011534213.1:p.His1176Leu
XM_017010980.2:c.*48A>T	XP_016866469.1:n.*48A>T
XM_017010981.2:c.3473A>T	XP_016866470.1:p.His1158Leu
XM_024446479.1:c.3473A>T	XP_024302247.1:p.His1158Leu
XR_001743479.2:n.5466A>T
XR_001743480.2:n.4294A>T
XR_001743481.2:n.4259A>T
XR_001743482.2:n.4162A>T
XR_001743483.2:n.5425-4837A>T
XR_001743484.2:n.5327A>T
XR_001743485.2:n.4023A>T
XR_001743486.2:n.5286-4837A>T
XR_001743487.2:n.5449A>T
XR_001743488.1:n.5691A>T
XR_001743489.2:n.5164A>T
XR_001743490.2:n.4145A>T
XR_002956286.1:n.3798A>T
XR_002956287.1:n.3757-4837A>T
NM_001134831.2:c.3527A>T MANE Select	NP_001128303.1:p.His1176Leu
NM_001134830.2:c.3527A>T	NP_001128302.1:p.His1176Leu
NM_001350503.2:c.3527A>T	NP_001337432.1:p.His1176Leu
NM_001350504.2:c.3486-4837A>T	NP_001337433.1:n.3486-4837A>T
NM_017651.5:c.3527A>T	NP_060121.3:p.His1176Leu