Canonical Allele Identifier: CA365840671

Gene: AHI1

Linked Data

• MyVariant Identifiers: chr6:g.135611587C>T (hg19) ; chr6:g.135290449C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.135290449C>T , CM000668.2:g.135290449C>T	GRCh38
NC_000006.11:g.135611587C>T , CM000668.1:g.135611587C>T	GRCh37
NC_000006.10:g.135653280C>T	NCBI36
NG_008643.1:g.212317G>A
NG_008643.2:g.212317G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265602.11:c.3562G>A MANE Select	ENSP00000265602.6:p.Ala1188Thr
ENST00000498558.6:n.603G>A
ENST00000527681.2:c.1231G>A
ENST00000679434.1:c.5178G>A	ENSP00000505592.1:n.5178G>A
ENST00000679450.1:c.3301G>A	ENSP00000506494.1:p.Ala1101Thr
ENST00000679490.1:n.2937G>A
ENST00000679502.1:n.2361-4802G>A
ENST00000679589.1:c.*3590G>A	ENSP00000506644.1:n.*3590G>A
ENST00000679668.1:c.5094G>A	ENSP00000505364.1:n.5094G>A
ENST00000679672.1:c.*1537G>A	ENSP00000505697.1:n.*1537G>A
ENST00000679711.1:c.1856G>A
ENST00000679742.1:c.4896-4802G>A	ENSP00000504890.1:n.4896-4802G>A
ENST00000679890.1:n.2053G>A
ENST00000679925.1:c.3486-4802G>A	ENSP00000505502.1:n.3486-4802G>A
ENST00000679943.1:c.3623G>A	ENSP00000505663.1:n.3623G>A
ENST00000680071.1:n.4335G>A
ENST00000680119.1:c.3787G>A	ENSP00000506403.1:n.3787G>A
ENST00000680328.1:n.671G>A
ENST00000680337.1:c.944-4802G>A
ENST00000680561.1:n.6229-4802G>A
ENST00000680826.1:c.3747G>A	ENSP00000505224.1:n.3747G>A
ENST00000680840.1:c.3790G>A	ENSP00000505809.1:n.3790G>A
ENST00000680965.1:c.*1016G>A	ENSP00000505398.1:n.*1016G>A
ENST00000681022.1:c.3562G>A	ENSP00000505121.1:p.Ala1188Thr
ENST00000681057.1:n.2744-4802G>A
ENST00000681196.1:n.4259-4802G>A
ENST00000681301.1:c.3409G>A	ENSP00000505093.1:p.Ala1137Thr
ENST00000681331.1:n.1291G>A
ENST00000681332.1:n.4079G>A
ENST00000681340.1:c.3562G>A	ENSP00000505666.1:p.Ala1188Thr
ENST00000681365.1:c.3562G>A	ENSP00000506604.1:p.Ala1188Thr
ENST00000681488.1:c.3431G>A	ENSP00000505884.1:n.3431G>A
ENST00000681522.1:c.3562G>A	ENSP00000506005.1:p.Ala1188Thr
ENST00000681556.1:n.3696G>A
ENST00000681718.1:c.*2049G>A	ENSP00000505266.1:n.*2049G>A
ENST00000681754.1:n.4250G>A
ENST00000681828.1:c.5118G>A	ENSP00000505608.1:n.5118G>A
ENST00000681841.1:c.3562G>A	ENSP00000504965.1:p.Ala1188Thr
ENST00000681860.1:c.3378G>A	ENSP00000506250.1:n.3378G>A
ENST00000265602.10:c.3562G>A	ENSP00000265602.6:p.Ala1188Thr
ENST00000367799.6:c.1985-4802G>A
ENST00000367800.8:c.3562G>A	ENSP00000356774.4:p.Ala1188Thr
ENST00000457866.6:c.3562G>A	ENSP00000388650.2:p.Ala1188Thr
ENST00000475846.6:c.1992G>A
ENST00000487135.1:n.155-4802G>A
ENST00000498558.5:n.411G>A
ENST00000527681.1:c.171G>A
NM_001134830.1:c.3562G>A	NP_001128302.1:p.Ala1188Thr
NM_001134831.1:c.3562G>A	NP_001128303.1:p.Ala1188Thr
NM_017651.4:c.3562G>A	NP_060121.3:p.Ala1188Thr
XM_011535910.1:c.3562G>A	XP_011534212.1:p.Ala1188Thr
XM_011535911.1:c.3562G>A	XP_011534213.1:p.Ala1188Thr
XM_011535914.1:c.*83G>A	XP_011534216.1:n.*83G>A
XM_011535915.1:c.3486-4802G>A	XP_011534217.1:n.3486-4802G>A
XR_942488.1:n.5404G>A
XR_942490.1:n.5328-4802G>A
XR_942493.1:n.5265G>A
XR_942494.1:n.5102G>A
NM_001350503.1:c.3562G>A	NP_001337432.1:p.Ala1188Thr
NM_001350504.1:c.3486-4802G>A	NP_001337433.1:n.3486-4802G>A
XM_011535910.3:c.3562G>A	XP_011534212.1:p.Ala1188Thr
XM_011535911.3:c.3562G>A	XP_011534213.1:p.Ala1188Thr
XM_017010980.2:c.*83G>A	XP_016866469.1:n.*83G>A
XM_017010981.2:c.3508G>A	XP_016866470.1:p.Ala1170Thr
XM_024446479.1:c.3508G>A	XP_024302247.1:p.Ala1170Thr
XR_001743479.2:n.5501G>A
XR_001743480.2:n.4329G>A
XR_001743481.2:n.4294G>A
XR_001743482.2:n.4197G>A
XR_001743483.2:n.5425-4802G>A
XR_001743484.2:n.5362G>A
XR_001743485.2:n.4058G>A
XR_001743486.2:n.5286-4802G>A
XR_001743487.2:n.5484G>A
XR_001743488.1:n.5726G>A
XR_001743489.2:n.5199G>A
XR_001743490.2:n.4180G>A
XR_002956286.1:n.3833G>A
XR_002956287.1:n.3757-4802G>A
NM_001134831.2:c.3562G>A MANE Select	NP_001128303.1:p.Ala1188Thr
NM_001134830.2:c.3562G>A	NP_001128302.1:p.Ala1188Thr
NM_001350503.2:c.3562G>A	NP_001337432.1:p.Ala1188Thr
NM_001350504.2:c.3486-4802G>A	NP_001337433.1:n.3486-4802G>A
NM_017651.5:c.3562G>A	NP_060121.3:p.Ala1188Thr