Canonical Allele Identifier: CA365840695

Gene: AHI1

Linked Data

• MyVariant Identifiers: chr6:g.135611597C>A (hg19) ; chr6:g.135290459C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.135290459C>A , CM000668.2:g.135290459C>A	GRCh38
NC_000006.11:g.135611597C>A , CM000668.1:g.135611597C>A	GRCh37
NC_000006.10:g.135653290C>A	NCBI36
NG_008643.1:g.212307G>T
NG_008643.2:g.212307G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265602.11:c.3552G>T MANE Select	ENSP00000265602.6:p.Lys1184Asn
ENST00000498558.6:n.593G>T
ENST00000527681.2:c.1221G>T
ENST00000679434.1:c.5168G>T	ENSP00000505592.1:n.5168G>T
ENST00000679450.1:c.3291G>T	ENSP00000506494.1:p.Lys1097Asn
ENST00000679490.1:n.2927G>T
ENST00000679502.1:n.2361-4812G>T
ENST00000679589.1:c.*3580G>T	ENSP00000506644.1:n.*3580G>T
ENST00000679668.1:c.5084G>T	ENSP00000505364.1:n.5084G>T
ENST00000679672.1:c.*1527G>T	ENSP00000505697.1:n.*1527G>T
ENST00000679711.1:c.1846G>T
ENST00000679742.1:c.4896-4812G>T	ENSP00000504890.1:n.4896-4812G>T
ENST00000679890.1:n.2043G>T
ENST00000679925.1:c.3486-4812G>T	ENSP00000505502.1:n.3486-4812G>T
ENST00000679943.1:c.3613G>T	ENSP00000505663.1:n.3613G>T
ENST00000680071.1:n.4325G>T
ENST00000680119.1:c.3777G>T	ENSP00000506403.1:n.3777G>T
ENST00000680328.1:n.661G>T
ENST00000680337.1:c.944-4812G>T
ENST00000680561.1:n.6229-4812G>T
ENST00000680826.1:c.3737G>T	ENSP00000505224.1:n.3737G>T
ENST00000680840.1:c.3780G>T	ENSP00000505809.1:n.3780G>T
ENST00000680965.1:c.*1006G>T	ENSP00000505398.1:n.*1006G>T
ENST00000681022.1:c.3552G>T	ENSP00000505121.1:p.Lys1184Asn
ENST00000681057.1:n.2744-4812G>T
ENST00000681196.1:n.4259-4812G>T
ENST00000681301.1:c.3399G>T	ENSP00000505093.1:p.Lys1133Asn
ENST00000681331.1:n.1281G>T
ENST00000681332.1:n.4069G>T
ENST00000681340.1:c.3552G>T	ENSP00000505666.1:p.Lys1184Asn
ENST00000681365.1:c.3552G>T	ENSP00000506604.1:p.Lys1184Asn
ENST00000681488.1:c.3421G>T	ENSP00000505884.1:n.3421G>T
ENST00000681522.1:c.3552G>T	ENSP00000506005.1:p.Lys1184Asn
ENST00000681556.1:n.3686G>T
ENST00000681718.1:c.*2039G>T	ENSP00000505266.1:n.*2039G>T
ENST00000681754.1:n.4240G>T
ENST00000681828.1:c.5108G>T	ENSP00000505608.1:n.5108G>T
ENST00000681841.1:c.3552G>T	ENSP00000504965.1:p.Lys1184Asn
ENST00000681860.1:c.3368G>T	ENSP00000506250.1:n.3368G>T
ENST00000265602.10:c.3552G>T	ENSP00000265602.6:p.Lys1184Asn
ENST00000367799.6:c.1985-4812G>T
ENST00000367800.8:c.3552G>T	ENSP00000356774.4:p.Lys1184Asn
ENST00000457866.6:c.3552G>T	ENSP00000388650.2:p.Lys1184Asn
ENST00000475846.6:c.1982G>T
ENST00000487135.1:n.155-4812G>T
ENST00000498558.5:n.401G>T
ENST00000527681.1:c.161G>T
NM_001134830.1:c.3552G>T	NP_001128302.1:p.Lys1184Asn
NM_001134831.1:c.3552G>T	NP_001128303.1:p.Lys1184Asn
NM_017651.4:c.3552G>T	NP_060121.3:p.Lys1184Asn
XM_011535910.1:c.3552G>T	XP_011534212.1:p.Lys1184Asn
XM_011535911.1:c.3552G>T	XP_011534213.1:p.Lys1184Asn
XM_011535914.1:c.*73G>T	XP_011534216.1:n.*73G>T
XM_011535915.1:c.3486-4812G>T	XP_011534217.1:n.3486-4812G>T
XR_942488.1:n.5394G>T
XR_942490.1:n.5328-4812G>T
XR_942493.1:n.5255G>T
XR_942494.1:n.5092G>T
NM_001350503.1:c.3552G>T	NP_001337432.1:p.Lys1184Asn
NM_001350504.1:c.3486-4812G>T	NP_001337433.1:n.3486-4812G>T
XM_011535910.3:c.3552G>T	XP_011534212.1:p.Lys1184Asn
XM_011535911.3:c.3552G>T	XP_011534213.1:p.Lys1184Asn
XM_017010980.2:c.*73G>T	XP_016866469.1:n.*73G>T
XM_017010981.2:c.3498G>T	XP_016866470.1:p.Lys1166Asn
XM_024446479.1:c.3498G>T	XP_024302247.1:p.Lys1166Asn
XR_001743479.2:n.5491G>T
XR_001743480.2:n.4319G>T
XR_001743481.2:n.4284G>T
XR_001743482.2:n.4187G>T
XR_001743483.2:n.5425-4812G>T
XR_001743484.2:n.5352G>T
XR_001743485.2:n.4048G>T
XR_001743486.2:n.5286-4812G>T
XR_001743487.2:n.5474G>T
XR_001743488.1:n.5716G>T
XR_001743489.2:n.5189G>T
XR_001743490.2:n.4170G>T
XR_002956286.1:n.3823G>T
XR_002956287.1:n.3757-4812G>T
NM_001134831.2:c.3552G>T MANE Select	NP_001128303.1:p.Lys1184Asn
NM_001134830.2:c.3552G>T	NP_001128302.1:p.Lys1184Asn
NM_001350503.2:c.3552G>T	NP_001337432.1:p.Lys1184Asn
NM_001350504.2:c.3486-4812G>T	NP_001337433.1:n.3486-4812G>T
NM_017651.5:c.3552G>T	NP_060121.3:p.Lys1184Asn