Canonical Allele Identifier: CA365840875

Gene: AHI1

Linked Data

• gnomAD v4: 6-135290502-C-A
• MyVariant Identifiers: chr6:g.135611640C>A (hg19) ; chr6:g.135290502C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.135290502C>A , CM000668.2:g.135290502C>A	GRCh38
NC_000006.11:g.135611640C>A , CM000668.1:g.135611640C>A	GRCh37
NC_000006.10:g.135653333C>A	NCBI36
NG_008643.1:g.212264G>T
NG_008643.2:g.212264G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265602.11:c.3509G>T MANE Select	ENSP00000265602.6:p.Ser1170Ile
ENST00000498558.6:n.550G>T
ENST00000527681.2:c.1178G>T
ENST00000679434.1:c.5125G>T	ENSP00000505592.1:n.5125G>T
ENST00000679450.1:c.3248G>T	ENSP00000506494.1:p.Ser1083Ile
ENST00000679490.1:n.2884G>T
ENST00000679502.1:n.2361-4855G>T
ENST00000679589.1:c.*3537G>T	ENSP00000506644.1:n.*3537G>T
ENST00000679668.1:c.5041G>T	ENSP00000505364.1:n.5041G>T
ENST00000679672.1:c.*1484G>T	ENSP00000505697.1:n.*1484G>T
ENST00000679711.1:c.1803G>T
ENST00000679742.1:c.4896-4855G>T	ENSP00000504890.1:n.4896-4855G>T
ENST00000679890.1:n.2000G>T
ENST00000679925.1:c.3486-4855G>T	ENSP00000505502.1:n.3486-4855G>T
ENST00000679943.1:c.3570G>T	ENSP00000505663.1:n.3570G>T
ENST00000680071.1:n.4282G>T
ENST00000680119.1:c.3734G>T	ENSP00000506403.1:n.3734G>T
ENST00000680328.1:n.618G>T
ENST00000680337.1:c.944-4855G>T
ENST00000680561.1:n.6229-4855G>T
ENST00000680826.1:c.3694G>T	ENSP00000505224.1:n.3694G>T
ENST00000680840.1:c.3737G>T	ENSP00000505809.1:n.3737G>T
ENST00000680965.1:c.*963G>T	ENSP00000505398.1:n.*963G>T
ENST00000681022.1:c.3509G>T	ENSP00000505121.1:p.Ser1170Ile
ENST00000681057.1:n.2744-4855G>T
ENST00000681196.1:n.4259-4855G>T
ENST00000681301.1:c.3356G>T	ENSP00000505093.1:p.Ser1119Ile
ENST00000681331.1:n.1238G>T
ENST00000681332.1:n.4026G>T
ENST00000681340.1:c.3509G>T	ENSP00000505666.1:p.Ser1170Ile
ENST00000681365.1:c.3509G>T	ENSP00000506604.1:p.Ser1170Ile
ENST00000681488.1:c.3378G>T	ENSP00000505884.1:n.3378G>T
ENST00000681522.1:c.3509G>T	ENSP00000506005.1:p.Ser1170Ile
ENST00000681556.1:n.3643G>T
ENST00000681718.1:c.*1996G>T	ENSP00000505266.1:n.*1996G>T
ENST00000681754.1:n.4197G>T
ENST00000681828.1:c.5065G>T	ENSP00000505608.1:n.5065G>T
ENST00000681841.1:c.3509G>T	ENSP00000504965.1:p.Ser1170Ile
ENST00000681860.1:c.3325G>T	ENSP00000506250.1:n.3325G>T
ENST00000265602.10:c.3509G>T	ENSP00000265602.6:p.Ser1170Ile
ENST00000367799.6:c.1985-4855G>T
ENST00000367800.8:c.3509G>T	ENSP00000356774.4:p.Ser1170Ile
ENST00000457866.6:c.3509G>T	ENSP00000388650.2:p.Ser1170Ile
ENST00000475846.6:c.1939G>T
ENST00000487135.1:n.155-4855G>T
ENST00000498558.5:n.358G>T
ENST00000527681.1:c.118G>T
NM_001134830.1:c.3509G>T	NP_001128302.1:p.Ser1170Ile
NM_001134831.1:c.3509G>T	NP_001128303.1:p.Ser1170Ile
NM_017651.4:c.3509G>T	NP_060121.3:p.Ser1170Ile
XM_011535910.1:c.3509G>T	XP_011534212.1:p.Ser1170Ile
XM_011535911.1:c.3509G>T	XP_011534213.1:p.Ser1170Ile
XM_011535914.1:c.*30G>T	XP_011534216.1:n.*30G>T
XM_011535915.1:c.3486-4855G>T	XP_011534217.1:n.3486-4855G>T
XR_942488.1:n.5351G>T
XR_942490.1:n.5328-4855G>T
XR_942493.1:n.5212G>T
XR_942494.1:n.5049G>T
NM_001350503.1:c.3509G>T	NP_001337432.1:p.Ser1170Ile
NM_001350504.1:c.3486-4855G>T	NP_001337433.1:n.3486-4855G>T
XM_011535910.3:c.3509G>T	XP_011534212.1:p.Ser1170Ile
XM_011535911.3:c.3509G>T	XP_011534213.1:p.Ser1170Ile
XM_017010980.2:c.*30G>T	XP_016866469.1:n.*30G>T
XM_017010981.2:c.3455G>T	XP_016866470.1:p.Ser1152Ile
XM_024446479.1:c.3455G>T	XP_024302247.1:p.Ser1152Ile
XR_001743479.2:n.5448G>T
XR_001743480.2:n.4276G>T
XR_001743481.2:n.4241G>T
XR_001743482.2:n.4144G>T
XR_001743483.2:n.5425-4855G>T
XR_001743484.2:n.5309G>T
XR_001743485.2:n.4005G>T
XR_001743486.2:n.5286-4855G>T
XR_001743487.2:n.5431G>T
XR_001743488.1:n.5673G>T
XR_001743489.2:n.5146G>T
XR_001743490.2:n.4127G>T
XR_002956286.1:n.3780G>T
XR_002956287.1:n.3757-4855G>T
NM_001134831.2:c.3509G>T MANE Select	NP_001128303.1:p.Ser1170Ile
NM_001134830.2:c.3509G>T	NP_001128302.1:p.Ser1170Ile
NM_001350503.2:c.3509G>T	NP_001337432.1:p.Ser1170Ile
NM_001350504.2:c.3486-4855G>T	NP_001337433.1:n.3486-4855G>T
NM_017651.5:c.3509G>T	NP_060121.3:p.Ser1170Ile