Canonical Allele Identifier: CA365840971

Gene: AHI1

Linked Data

• MyVariant Identifiers: chr6:g.135611656T>G (hg19) ; chr6:g.135290518T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.135290518T>G , CM000668.2:g.135290518T>G	GRCh38
NC_000006.11:g.135611656T>G , CM000668.1:g.135611656T>G	GRCh37
NC_000006.10:g.135653349T>G	NCBI36
NG_008643.1:g.212248A>C
NG_008643.2:g.212248A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265602.11:c.3493A>C MANE Select	ENSP00000265602.6:p.Met1165Leu
ENST00000498558.6:n.534A>C
ENST00000527681.2:c.1162A>C
ENST00000679434.1:c.5109A>C	ENSP00000505592.1:n.5109A>C
ENST00000679450.1:c.3232A>C	ENSP00000506494.1:p.Met1078Leu
ENST00000679490.1:n.2868A>C
ENST00000679502.1:n.2361-4871A>C
ENST00000679589.1:c.*3521A>C	ENSP00000506644.1:n.*3521A>C
ENST00000679668.1:c.5025A>C	ENSP00000505364.1:n.5025A>C
ENST00000679672.1:c.*1468A>C	ENSP00000505697.1:n.*1468A>C
ENST00000679711.1:c.1787A>C
ENST00000679742.1:c.4896-4871A>C	ENSP00000504890.1:n.4896-4871A>C
ENST00000679890.1:n.1984A>C
ENST00000679925.1:c.3486-4871A>C	ENSP00000505502.1:n.3486-4871A>C
ENST00000679943.1:c.3554A>C	ENSP00000505663.1:n.3554A>C
ENST00000680071.1:n.4266A>C
ENST00000680119.1:c.3718A>C	ENSP00000506403.1:n.3718A>C
ENST00000680328.1:n.602A>C
ENST00000680337.1:c.944-4871A>C
ENST00000680561.1:n.6229-4871A>C
ENST00000680826.1:c.3678A>C	ENSP00000505224.1:n.3678A>C
ENST00000680840.1:c.3721A>C	ENSP00000505809.1:n.3721A>C
ENST00000680965.1:c.*947A>C	ENSP00000505398.1:n.*947A>C
ENST00000681022.1:c.3493A>C	ENSP00000505121.1:p.Met1165Leu
ENST00000681057.1:n.2744-4871A>C
ENST00000681196.1:n.4259-4871A>C
ENST00000681301.1:c.3340A>C	ENSP00000505093.1:p.Met1114Leu
ENST00000681331.1:n.1222A>C
ENST00000681332.1:n.4010A>C
ENST00000681340.1:c.3493A>C	ENSP00000505666.1:p.Met1165Leu
ENST00000681365.1:c.3493A>C	ENSP00000506604.1:p.Met1165Leu
ENST00000681488.1:c.3362A>C	ENSP00000505884.1:n.3362A>C
ENST00000681522.1:c.3493A>C	ENSP00000506005.1:p.Met1165Leu
ENST00000681556.1:n.3627A>C
ENST00000681718.1:c.*1980A>C	ENSP00000505266.1:n.*1980A>C
ENST00000681754.1:n.4181A>C
ENST00000681828.1:c.5049A>C	ENSP00000505608.1:n.5049A>C
ENST00000681841.1:c.3493A>C	ENSP00000504965.1:p.Met1165Leu
ENST00000681860.1:c.3309A>C	ENSP00000506250.1:n.3309A>C
ENST00000265602.10:c.3493A>C	ENSP00000265602.6:p.Met1165Leu
ENST00000367799.6:c.1985-4871A>C
ENST00000367800.8:c.3493A>C	ENSP00000356774.4:p.Met1165Leu
ENST00000457866.6:c.3493A>C	ENSP00000388650.2:p.Met1165Leu
ENST00000475846.6:c.1923A>C
ENST00000487135.1:n.155-4871A>C
ENST00000498558.5:n.342A>C
ENST00000527681.1:c.102A>C
NM_001134830.1:c.3493A>C	NP_001128302.1:p.Met1165Leu
NM_001134831.1:c.3493A>C	NP_001128303.1:p.Met1165Leu
NM_017651.4:c.3493A>C	NP_060121.3:p.Met1165Leu
XM_011535910.1:c.3493A>C	XP_011534212.1:p.Met1165Leu
XM_011535911.1:c.3493A>C	XP_011534213.1:p.Met1165Leu
XM_011535914.1:c.*14A>C	XP_011534216.1:n.*14A>C
XM_011535915.1:c.3486-4871A>C	XP_011534217.1:n.3486-4871A>C
XR_942488.1:n.5335A>C
XR_942490.1:n.5328-4871A>C
XR_942493.1:n.5196A>C
XR_942494.1:n.5033A>C
NM_001350503.1:c.3493A>C	NP_001337432.1:p.Met1165Leu
NM_001350504.1:c.3486-4871A>C	NP_001337433.1:n.3486-4871A>C
XM_011535910.3:c.3493A>C	XP_011534212.1:p.Met1165Leu
XM_011535911.3:c.3493A>C	XP_011534213.1:p.Met1165Leu
XM_017010980.2:c.*14A>C	XP_016866469.1:n.*14A>C
XM_017010981.2:c.3439A>C	XP_016866470.1:p.Met1147Leu
XM_024446479.1:c.3439A>C	XP_024302247.1:p.Met1147Leu
XR_001743479.2:n.5432A>C
XR_001743480.2:n.4260A>C
XR_001743481.2:n.4225A>C
XR_001743482.2:n.4128A>C
XR_001743483.2:n.5425-4871A>C
XR_001743484.2:n.5293A>C
XR_001743485.2:n.3989A>C
XR_001743486.2:n.5286-4871A>C
XR_001743487.2:n.5415A>C
XR_001743488.1:n.5657A>C
XR_001743489.2:n.5130A>C
XR_001743490.2:n.4111A>C
XR_002956286.1:n.3764A>C
XR_002956287.1:n.3757-4871A>C
NM_001134831.2:c.3493A>C MANE Select	NP_001128303.1:p.Met1165Leu
NM_001134830.2:c.3493A>C	NP_001128302.1:p.Met1165Leu
NM_001350503.2:c.3493A>C	NP_001337432.1:p.Met1165Leu
NM_001350504.2:c.3486-4871A>C	NP_001337433.1:n.3486-4871A>C
NM_017651.5:c.3493A>C	NP_060121.3:p.Met1165Leu