Canonical Allele Identifier: CA365840698

Gene: AHI1

Linked Data

• gnomAD v4: 6-135290460-T-C
• MyVariant Identifiers: chr6:g.135611598T>C (hg19) ; chr6:g.135290460T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.135290460T>C , CM000668.2:g.135290460T>C	GRCh38
NC_000006.11:g.135611598T>C , CM000668.1:g.135611598T>C	GRCh37
NC_000006.10:g.135653291T>C	NCBI36
NG_008643.1:g.212306A>G
NG_008643.2:g.212306A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265602.11:c.3551A>G MANE Select	ENSP00000265602.6:p.Lys1184Arg
ENST00000498558.6:n.592A>G
ENST00000527681.2:c.1220A>G
ENST00000679434.1:c.5167A>G	ENSP00000505592.1:n.5167A>G
ENST00000679450.1:c.3290A>G	ENSP00000506494.1:p.Lys1097Arg
ENST00000679490.1:n.2926A>G
ENST00000679502.1:n.2361-4813A>G
ENST00000679589.1:c.*3579A>G	ENSP00000506644.1:n.*3579A>G
ENST00000679668.1:c.5083A>G	ENSP00000505364.1:n.5083A>G
ENST00000679672.1:c.*1526A>G	ENSP00000505697.1:n.*1526A>G
ENST00000679711.1:c.1845A>G
ENST00000679742.1:c.4896-4813A>G	ENSP00000504890.1:n.4896-4813A>G
ENST00000679890.1:n.2042A>G
ENST00000679925.1:c.3486-4813A>G	ENSP00000505502.1:n.3486-4813A>G
ENST00000679943.1:c.3612A>G	ENSP00000505663.1:n.3612A>G
ENST00000680071.1:n.4324A>G
ENST00000680119.1:c.3776A>G	ENSP00000506403.1:n.3776A>G
ENST00000680328.1:n.660A>G
ENST00000680337.1:c.944-4813A>G
ENST00000680561.1:n.6229-4813A>G
ENST00000680826.1:c.3736A>G	ENSP00000505224.1:n.3736A>G
ENST00000680840.1:c.3779A>G	ENSP00000505809.1:n.3779A>G
ENST00000680965.1:c.*1005A>G	ENSP00000505398.1:n.*1005A>G
ENST00000681022.1:c.3551A>G	ENSP00000505121.1:p.Lys1184Arg
ENST00000681057.1:n.2744-4813A>G
ENST00000681196.1:n.4259-4813A>G
ENST00000681301.1:c.3398A>G	ENSP00000505093.1:p.Lys1133Arg
ENST00000681331.1:n.1280A>G
ENST00000681332.1:n.4068A>G
ENST00000681340.1:c.3551A>G	ENSP00000505666.1:p.Lys1184Arg
ENST00000681365.1:c.3551A>G	ENSP00000506604.1:p.Lys1184Arg
ENST00000681488.1:c.3420A>G	ENSP00000505884.1:n.3420A>G
ENST00000681522.1:c.3551A>G	ENSP00000506005.1:p.Lys1184Arg
ENST00000681556.1:n.3685A>G
ENST00000681718.1:c.*2038A>G	ENSP00000505266.1:n.*2038A>G
ENST00000681754.1:n.4239A>G
ENST00000681828.1:c.5107A>G	ENSP00000505608.1:n.5107A>G
ENST00000681841.1:c.3551A>G	ENSP00000504965.1:p.Lys1184Arg
ENST00000681860.1:c.3367A>G	ENSP00000506250.1:n.3367A>G
ENST00000265602.10:c.3551A>G	ENSP00000265602.6:p.Lys1184Arg
ENST00000367799.6:c.1985-4813A>G
ENST00000367800.8:c.3551A>G	ENSP00000356774.4:p.Lys1184Arg
ENST00000457866.6:c.3551A>G	ENSP00000388650.2:p.Lys1184Arg
ENST00000475846.6:c.1981A>G
ENST00000487135.1:n.155-4813A>G
ENST00000498558.5:n.400A>G
ENST00000527681.1:c.160A>G
NM_001134830.1:c.3551A>G	NP_001128302.1:p.Lys1184Arg
NM_001134831.1:c.3551A>G	NP_001128303.1:p.Lys1184Arg
NM_017651.4:c.3551A>G	NP_060121.3:p.Lys1184Arg
XM_011535910.1:c.3551A>G	XP_011534212.1:p.Lys1184Arg
XM_011535911.1:c.3551A>G	XP_011534213.1:p.Lys1184Arg
XM_011535914.1:c.*72A>G	XP_011534216.1:n.*72A>G
XM_011535915.1:c.3486-4813A>G	XP_011534217.1:n.3486-4813A>G
XR_942488.1:n.5393A>G
XR_942490.1:n.5328-4813A>G
XR_942493.1:n.5254A>G
XR_942494.1:n.5091A>G
NM_001350503.1:c.3551A>G	NP_001337432.1:p.Lys1184Arg
NM_001350504.1:c.3486-4813A>G	NP_001337433.1:n.3486-4813A>G
XM_011535910.3:c.3551A>G	XP_011534212.1:p.Lys1184Arg
XM_011535911.3:c.3551A>G	XP_011534213.1:p.Lys1184Arg
XM_017010980.2:c.*72A>G	XP_016866469.1:n.*72A>G
XM_017010981.2:c.3497A>G	XP_016866470.1:p.Lys1166Arg
XM_024446479.1:c.3497A>G	XP_024302247.1:p.Lys1166Arg
XR_001743479.2:n.5490A>G
XR_001743480.2:n.4318A>G
XR_001743481.2:n.4283A>G
XR_001743482.2:n.4186A>G
XR_001743483.2:n.5425-4813A>G
XR_001743484.2:n.5351A>G
XR_001743485.2:n.4047A>G
XR_001743486.2:n.5286-4813A>G
XR_001743487.2:n.5473A>G
XR_001743488.1:n.5715A>G
XR_001743489.2:n.5188A>G
XR_001743490.2:n.4169A>G
XR_002956286.1:n.3822A>G
XR_002956287.1:n.3757-4813A>G
NM_001134831.2:c.3551A>G MANE Select	NP_001128303.1:p.Lys1184Arg
NM_001134830.2:c.3551A>G	NP_001128302.1:p.Lys1184Arg
NM_001350503.2:c.3551A>G	NP_001337432.1:p.Lys1184Arg
NM_001350504.2:c.3486-4813A>G	NP_001337433.1:n.3486-4813A>G
NM_017651.5:c.3551A>G	NP_060121.3:p.Lys1184Arg