Canonical Allele Identifier: CA365844292

Gene: AHI1

Linked Data

• gnomAD v4: 6-135318565-C-A
• COSMIC: COSM3858476
• MyVariant Identifiers: chr6:g.135639703C>A (hg19) ; chr6:g.135318565C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.135318565C>A , CM000668.2:g.135318565C>A	GRCh38
NC_000006.11:g.135639703C>A , CM000668.1:g.135639703C>A	GRCh37
NC_000006.10:g.135681396C>A	NCBI36
NG_008643.1:g.184201G>T
NG_008643.2:g.184201G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265602.11:c.3380G>T MANE Select	ENSP00000265602.6:p.Ser1127Ile
ENST00000367799.7:c.2432G>T	ENSP00000356773.3:p.Ser811Ile
ENST00000527681.2:c.1049G>T
ENST00000679434.1:c.3565G>T	ENSP00000505592.1:n.3565G>T
ENST00000679450.1:c.3166-18007G>T	ENSP00000506494.1:n.3166-18007G>T
ENST00000679476.1:c.1309G>T
ENST00000679589.1:c.*3408G>T	ENSP00000506644.1:n.*3408G>T
ENST00000679622.1:c.*307G>T	ENSP00000506261.1:n.*307G>T
ENST00000679668.1:c.3502G>T	ENSP00000505364.1:n.3502G>T
ENST00000679672.1:c.3380G>T	ENSP00000505697.1:p.Ser1127Ile
ENST00000679711.1:c.1674G>T
ENST00000679742.1:c.3380G>T	ENSP00000504890.1:p.Ser1127Ile
ENST00000679890.1:n.1871G>T
ENST00000679925.1:c.3380G>T	ENSP00000505502.1:p.Ser1127Ile
ENST00000679943.1:c.3380G>T	ENSP00000505663.1:p.Ser1127Ile
ENST00000680071.1:n.1894G>T
ENST00000680119.1:c.3457G>T	ENSP00000506403.1:n.3457G>T
ENST00000680157.1:n.1894G>T
ENST00000680184.1:c.*169G>T	ENSP00000506009.1:n.*169G>T
ENST00000680278.1:c.3852G>T	ENSP00000506153.1:n.3852G>T
ENST00000680337.1:c.838G>T
ENST00000680561.1:n.6123G>T
ENST00000680656.1:c.*457G>T	ENSP00000505297.1:n.*457G>T
ENST00000680826.1:c.3565G>T	ENSP00000505224.1:n.3565G>T
ENST00000680840.1:c.3502G>T	ENSP00000505809.1:n.3502G>T
ENST00000680965.1:c.*834G>T	ENSP00000505398.1:n.*834G>T
ENST00000681022.1:c.3380G>T	ENSP00000505121.1:p.Ser1127Ile
ENST00000681057.1:n.2744-32918G>T
ENST00000681196.1:n.1894G>T
ENST00000681301.1:c.3227G>T	ENSP00000505093.1:p.Ser1076Ile
ENST00000681331.1:n.1109G>T
ENST00000681332.1:n.3897G>T
ENST00000681340.1:c.3380G>T	ENSP00000505666.1:p.Ser1127Ile
ENST00000681365.1:c.3380G>T	ENSP00000506604.1:p.Ser1127Ile
ENST00000681488.1:c.3249G>T	ENSP00000505884.1:n.3249G>T
ENST00000681522.1:c.3380G>T	ENSP00000506005.1:p.Ser1127Ile
ENST00000681670.1:c.3380G>T	ENSP00000504895.1:p.Ser1127Ile
ENST00000681718.1:c.*457G>T	ENSP00000505266.1:n.*457G>T
ENST00000681756.1:c.3380G>T	ENSP00000506505.1:p.Ser1127Ile
ENST00000681828.1:c.3502G>T	ENSP00000505608.1:n.3502G>T
ENST00000681841.1:c.3380G>T	ENSP00000504965.1:p.Ser1127Ile
ENST00000681860.1:c.2993G>T	ENSP00000506250.1:n.2993G>T
ENST00000265602.10:c.3380G>T	ENSP00000265602.6:p.Ser1127Ile
ENST00000367799.6:c.1879G>T
ENST00000367800.8:c.3380G>T	ENSP00000356774.4:p.Ser1127Ile
ENST00000457866.6:c.3380G>T	ENSP00000388650.2:p.Ser1127Ile
ENST00000475846.6:c.1572G>T
ENST00000531788.5:c.*1420G>T	ENSP00000432167.1:n.*1420G>T
ENST00000533029.1:n.270G>T
NM_001134830.1:c.3380G>T	NP_001128302.1:p.Ser1127Ile
NM_001134831.1:c.3380G>T	NP_001128303.1:p.Ser1127Ile
NM_017651.4:c.3380G>T	NP_060121.3:p.Ser1127Ile
XM_011535910.1:c.3380G>T	XP_011534212.1:p.Ser1127Ile
XM_011535911.1:c.3380G>T	XP_011534213.1:p.Ser1127Ile
XM_011535912.1:c.3380G>T	XP_011534214.1:p.Ser1127Ile
XM_011535913.1:c.3380G>T	XP_011534215.1:p.Ser1127Ile
XM_011535914.1:c.3380G>T	XP_011534216.1:p.Ser1127Ile
XM_011535915.1:c.3380G>T	XP_011534217.1:p.Ser1127Ile
XM_011535916.1:c.*22G>T	XP_011534218.1:n.*22G>T
XR_942488.1:n.3673G>T
XR_942489.1:n.3673G>T
XR_942490.1:n.3673G>T
XR_942491.1:n.3673G>T
XR_942493.1:n.3673G>T
XR_942494.1:n.3510G>T
NM_001350503.1:c.3380G>T	NP_001337432.1:p.Ser1127Ile
NM_001350504.1:c.3380G>T	NP_001337433.1:p.Ser1127Ile
XM_011535910.3:c.3380G>T	XP_011534212.1:p.Ser1127Ile
XM_011535911.3:c.3380G>T	XP_011534213.1:p.Ser1127Ile
XM_017010978.2:c.3380G>T	XP_016866467.1:p.Ser1127Ile
XM_017010979.2:c.3380G>T	XP_016866468.1:p.Ser1127Ile
XM_017010980.2:c.3380G>T	XP_016866469.1:p.Ser1127Ile
XM_017010981.2:c.3326G>T	XP_016866470.1:p.Ser1109Ile
XM_024446479.1:c.3326G>T	XP_024302247.1:p.Ser1109Ile
XM_024446480.1:c.*22G>T	XP_024302248.1:n.*22G>T
XR_001743479.2:n.3770G>T
XR_001743480.2:n.3770G>T
XR_001743481.2:n.3770G>T
XR_001743482.2:n.3770G>T
XR_001743483.2:n.3770G>T
XR_001743484.2:n.3770G>T
XR_001743485.2:n.3770G>T
XR_001743486.2:n.3770G>T
XR_001743487.2:n.3892G>T
XR_001743488.1:n.4134G>T
XR_001743489.2:n.3607G>T
XR_001743490.2:n.3892G>T
XR_002956286.1:n.3651G>T
XR_002956287.1:n.3651G>T
NM_001134831.2:c.3380G>T MANE Select	NP_001128303.1:p.Ser1127Ile
NM_001134830.2:c.3380G>T	NP_001128302.1:p.Ser1127Ile
NM_001350503.2:c.3380G>T	NP_001337432.1:p.Ser1127Ile
NM_001350504.2:c.3380G>T	NP_001337433.1:p.Ser1127Ile
NM_017651.5:c.3380G>T	NP_060121.3:p.Ser1127Ile