Canonical Allele Identifier: CA365840627

Gene: AHI1

Linked Data

• dbSNP Id: rs1782195229
• gnomAD v4: 6-135290427-A-G
• MyVariant Identifiers: chr6:g.135611565A>G (hg19) ; chr6:g.135290427A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.135290427A>G , CM000668.2:g.135290427A>G	GRCh38
NC_000006.11:g.135611565A>G , CM000668.1:g.135611565A>G	GRCh37
NC_000006.10:g.135653258A>G	NCBI36
NG_008643.1:g.212339T>C
NG_008643.2:g.212339T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265602.11:c.3584T>C MANE Select	ENSP00000265602.6:p.Ile1195Thr
ENST00000498558.6:n.625T>C
ENST00000527681.2:c.1253T>C
ENST00000679434.1:c.5200T>C	ENSP00000505592.1:n.5200T>C
ENST00000679450.1:c.3323T>C	ENSP00000506494.1:p.Ile1108Thr
ENST00000679490.1:n.2959T>C
ENST00000679502.1:n.2361-4780T>C
ENST00000679589.1:c.*3612T>C	ENSP00000506644.1:n.*3612T>C
ENST00000679668.1:c.5116T>C	ENSP00000505364.1:n.5116T>C
ENST00000679672.1:c.*1559T>C	ENSP00000505697.1:n.*1559T>C
ENST00000679711.1:c.1878T>C
ENST00000679742.1:c.4896-4780T>C	ENSP00000504890.1:n.4896-4780T>C
ENST00000679890.1:n.2075T>C
ENST00000679925.1:c.3486-4780T>C	ENSP00000505502.1:n.3486-4780T>C
ENST00000679943.1:c.3645T>C	ENSP00000505663.1:n.3645T>C
ENST00000680071.1:n.4357T>C
ENST00000680119.1:c.3809T>C	ENSP00000506403.1:n.3809T>C
ENST00000680328.1:n.693T>C
ENST00000680337.1:c.944-4780T>C
ENST00000680561.1:n.6229-4780T>C
ENST00000680826.1:c.3769T>C	ENSP00000505224.1:n.3769T>C
ENST00000680840.1:c.3812T>C	ENSP00000505809.1:n.3812T>C
ENST00000680965.1:c.*1038T>C	ENSP00000505398.1:n.*1038T>C
ENST00000681022.1:c.3584T>C	ENSP00000505121.1:p.Ile1195Thr
ENST00000681057.1:n.2744-4780T>C
ENST00000681196.1:n.4259-4780T>C
ENST00000681301.1:c.3431T>C	ENSP00000505093.1:p.Ile1144Thr
ENST00000681331.1:n.1313T>C
ENST00000681332.1:n.4101T>C
ENST00000681340.1:c.3584T>C	ENSP00000505666.1:p.Ile1195Thr
ENST00000681365.1:c.3584T>C	ENSP00000506604.1:p.Ile1195Thr
ENST00000681488.1:c.3453T>C	ENSP00000505884.1:n.3453T>C
ENST00000681522.1:c.3584T>C	ENSP00000506005.1:p.Ile1195Thr
ENST00000681556.1:n.3718T>C
ENST00000681718.1:c.*2071T>C	ENSP00000505266.1:n.*2071T>C
ENST00000681754.1:n.4272T>C
ENST00000681828.1:c.5140T>C	ENSP00000505608.1:n.5140T>C
ENST00000681841.1:c.3584T>C	ENSP00000504965.1:p.Ile1195Thr
ENST00000681860.1:c.3400T>C	ENSP00000506250.1:n.3400T>C
ENST00000265602.10:c.3584T>C	ENSP00000265602.6:p.Ile1195Thr
ENST00000367799.6:c.1985-4780T>C
ENST00000367800.8:c.3584T>C	ENSP00000356774.4:p.Ile1195Thr
ENST00000457866.6:c.3584T>C	ENSP00000388650.2:p.Ile1195Thr
ENST00000475846.6:c.2014T>C
ENST00000487135.1:n.155-4780T>C
ENST00000498558.5:n.433T>C
ENST00000527681.1:c.193T>C
NM_001134830.1:c.3584T>C	NP_001128302.1:p.Ile1195Thr
NM_001134831.1:c.3584T>C	NP_001128303.1:p.Ile1195Thr
NM_017651.4:c.3584T>C	NP_060121.3:p.Ile1195Thr
XM_011535910.1:c.3584T>C	XP_011534212.1:p.Ile1195Thr
XM_011535911.1:c.3584T>C	XP_011534213.1:p.Ile1195Thr
XM_011535915.1:c.3486-4780T>C	XP_011534217.1:n.3486-4780T>C
XR_942488.1:n.5426T>C
XR_942490.1:n.5328-4780T>C
XR_942493.1:n.5287T>C
XR_942494.1:n.5124T>C
NM_001350503.1:c.3584T>C	NP_001337432.1:p.Ile1195Thr
NM_001350504.1:c.3486-4780T>C	NP_001337433.1:n.3486-4780T>C
XM_011535910.3:c.3584T>C	XP_011534212.1:p.Ile1195Thr
XM_011535911.3:c.3584T>C	XP_011534213.1:p.Ile1195Thr
XM_017010980.2:c.*105T>C	XP_016866469.1:n.*105T>C
XM_017010981.2:c.3530T>C	XP_016866470.1:p.Ile1177Thr
XM_024446479.1:c.3530T>C	XP_024302247.1:p.Ile1177Thr
XR_001743479.2:n.5523T>C
XR_001743480.2:n.4351T>C
XR_001743481.2:n.4316T>C
XR_001743482.2:n.4219T>C
XR_001743483.2:n.5425-4780T>C
XR_001743484.2:n.5384T>C
XR_001743485.2:n.4080T>C
XR_001743486.2:n.5286-4780T>C
XR_001743487.2:n.5506T>C
XR_001743488.1:n.5748T>C
XR_001743489.2:n.5221T>C
XR_001743490.2:n.4202T>C
XR_002956286.1:n.3855T>C
XR_002956287.1:n.3757-4780T>C
NM_001134831.2:c.3584T>C MANE Select	NP_001128303.1:p.Ile1195Thr
NM_001134830.2:c.3584T>C	NP_001128302.1:p.Ile1195Thr
NM_001350503.2:c.3584T>C	NP_001337432.1:p.Ile1195Thr
NM_001350504.2:c.3486-4780T>C	NP_001337433.1:n.3486-4780T>C
NM_017651.5:c.3584T>C	NP_060121.3:p.Ile1195Thr