Canonical Allele Identifier: CA365840757

Gene: AHI1

Linked Data

• COSMIC: COSM739998
• MyVariant Identifiers: chr6:g.135611618T>C (hg19) ; chr6:g.135290480T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.135290480T>C , CM000668.2:g.135290480T>C	GRCh38
NC_000006.11:g.135611618T>C , CM000668.1:g.135611618T>C	GRCh37
NC_000006.10:g.135653311T>C	NCBI36
NG_008643.1:g.212286A>G
NG_008643.2:g.212286A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265602.11:c.3531A>G MANE Select	ENSP00000265602.6:p.Ile1177Met
ENST00000498558.6:n.572A>G
ENST00000527681.2:c.1200A>G
ENST00000679434.1:c.5147A>G	ENSP00000505592.1:n.5147A>G
ENST00000679450.1:c.3270A>G	ENSP00000506494.1:p.Ile1090Met
ENST00000679490.1:n.2906A>G
ENST00000679502.1:n.2361-4833A>G
ENST00000679589.1:c.*3559A>G	ENSP00000506644.1:n.*3559A>G
ENST00000679668.1:c.5063A>G	ENSP00000505364.1:n.5063A>G
ENST00000679672.1:c.*1506A>G	ENSP00000505697.1:n.*1506A>G
ENST00000679711.1:c.1825A>G
ENST00000679742.1:c.4896-4833A>G	ENSP00000504890.1:n.4896-4833A>G
ENST00000679890.1:n.2022A>G
ENST00000679925.1:c.3486-4833A>G	ENSP00000505502.1:n.3486-4833A>G
ENST00000679943.1:c.3592A>G	ENSP00000505663.1:n.3592A>G
ENST00000680071.1:n.4304A>G
ENST00000680119.1:c.3756A>G	ENSP00000506403.1:n.3756A>G
ENST00000680328.1:n.640A>G
ENST00000680337.1:c.944-4833A>G
ENST00000680561.1:n.6229-4833A>G
ENST00000680826.1:c.3716A>G	ENSP00000505224.1:n.3716A>G
ENST00000680840.1:c.3759A>G	ENSP00000505809.1:n.3759A>G
ENST00000680965.1:c.*985A>G	ENSP00000505398.1:n.*985A>G
ENST00000681022.1:c.3531A>G	ENSP00000505121.1:p.Ile1177Met
ENST00000681057.1:n.2744-4833A>G
ENST00000681196.1:n.4259-4833A>G
ENST00000681301.1:c.3378A>G	ENSP00000505093.1:p.Ile1126Met
ENST00000681331.1:n.1260A>G
ENST00000681332.1:n.4048A>G
ENST00000681340.1:c.3531A>G	ENSP00000505666.1:p.Ile1177Met
ENST00000681365.1:c.3531A>G	ENSP00000506604.1:p.Ile1177Met
ENST00000681488.1:c.3400A>G	ENSP00000505884.1:n.3400A>G
ENST00000681522.1:c.3531A>G	ENSP00000506005.1:p.Ile1177Met
ENST00000681556.1:n.3665A>G
ENST00000681718.1:c.*2018A>G	ENSP00000505266.1:n.*2018A>G
ENST00000681754.1:n.4219A>G
ENST00000681828.1:c.5087A>G	ENSP00000505608.1:n.5087A>G
ENST00000681841.1:c.3531A>G	ENSP00000504965.1:p.Ile1177Met
ENST00000681860.1:c.3347A>G	ENSP00000506250.1:n.3347A>G
ENST00000265602.10:c.3531A>G	ENSP00000265602.6:p.Ile1177Met
ENST00000367799.6:c.1985-4833A>G
ENST00000367800.8:c.3531A>G	ENSP00000356774.4:p.Ile1177Met
ENST00000457866.6:c.3531A>G	ENSP00000388650.2:p.Ile1177Met
ENST00000475846.6:c.1961A>G
ENST00000487135.1:n.155-4833A>G
ENST00000498558.5:n.380A>G
ENST00000527681.1:c.140A>G
NM_001134830.1:c.3531A>G	NP_001128302.1:p.Ile1177Met
NM_001134831.1:c.3531A>G	NP_001128303.1:p.Ile1177Met
NM_017651.4:c.3531A>G	NP_060121.3:p.Ile1177Met
XM_011535910.1:c.3531A>G	XP_011534212.1:p.Ile1177Met
XM_011535911.1:c.3531A>G	XP_011534213.1:p.Ile1177Met
XM_011535914.1:c.*52A>G	XP_011534216.1:n.*52A>G
XM_011535915.1:c.3486-4833A>G	XP_011534217.1:n.3486-4833A>G
XR_942488.1:n.5373A>G
XR_942490.1:n.5328-4833A>G
XR_942493.1:n.5234A>G
XR_942494.1:n.5071A>G
NM_001350503.1:c.3531A>G	NP_001337432.1:p.Ile1177Met
NM_001350504.1:c.3486-4833A>G	NP_001337433.1:n.3486-4833A>G
XM_011535910.3:c.3531A>G	XP_011534212.1:p.Ile1177Met
XM_011535911.3:c.3531A>G	XP_011534213.1:p.Ile1177Met
XM_017010980.2:c.*52A>G	XP_016866469.1:n.*52A>G
XM_017010981.2:c.3477A>G	XP_016866470.1:p.Ile1159Met
XM_024446479.1:c.3477A>G	XP_024302247.1:p.Ile1159Met
XR_001743479.2:n.5470A>G
XR_001743480.2:n.4298A>G
XR_001743481.2:n.4263A>G
XR_001743482.2:n.4166A>G
XR_001743483.2:n.5425-4833A>G
XR_001743484.2:n.5331A>G
XR_001743485.2:n.4027A>G
XR_001743486.2:n.5286-4833A>G
XR_001743487.2:n.5453A>G
XR_001743488.1:n.5695A>G
XR_001743489.2:n.5168A>G
XR_001743490.2:n.4149A>G
XR_002956286.1:n.3802A>G
XR_002956287.1:n.3757-4833A>G
NM_001134831.2:c.3531A>G MANE Select	NP_001128303.1:p.Ile1177Met
NM_001134830.2:c.3531A>G	NP_001128302.1:p.Ile1177Met
NM_001350503.2:c.3531A>G	NP_001337432.1:p.Ile1177Met
NM_001350504.2:c.3486-4833A>G	NP_001337433.1:n.3486-4833A>G
NM_017651.5:c.3531A>G	NP_060121.3:p.Ile1177Met