Canonical Allele Identifier: CA452341421

Gene: AHI1

Linked Data

• MyVariant Identifiers: chr6:g.135611660A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.135290522A>C , CM000668.2:g.135290522A>C	GRCh38
NC_000006.11:g.135611660A>C , CM000668.1:g.135611660A>C	GRCh37
NC_000006.10:g.135653353A>C	NCBI36
NG_008643.1:g.212244T>G
NG_008643.2:g.212244T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265602.11:c.3489T>G MANE Select	ENSP00000265602.6:p.Ser1163=
ENST00000498558.6:n.530T>G
ENST00000527681.2:c.1158T>G
ENST00000679434.1:c.5105T>G	ENSP00000505592.1:n.5105T>G
ENST00000679450.1:c.3228T>G	ENSP00000506494.1:p.Ser1076=
ENST00000679490.1:n.2864T>G
ENST00000679502.1:n.2361-4875T>G
ENST00000679589.1:c.*3517T>G	ENSP00000506644.1:n.*3517T>G
ENST00000679668.1:c.5021T>G	ENSP00000505364.1:n.5021T>G
ENST00000679672.1:c.*1464T>G	ENSP00000505697.1:n.*1464T>G
ENST00000679711.1:c.1783T>G
ENST00000679742.1:c.4896-4875T>G	ENSP00000504890.1:n.4896-4875T>G
ENST00000679890.1:n.1980T>G
ENST00000679925.1:c.3486-4875T>G	ENSP00000505502.1:n.3486-4875T>G
ENST00000679943.1:c.3550T>G	ENSP00000505663.1:n.3550T>G
ENST00000680071.1:n.4262T>G
ENST00000680119.1:c.3714T>G	ENSP00000506403.1:n.3714T>G
ENST00000680328.1:n.598T>G
ENST00000680337.1:c.944-4875T>G
ENST00000680561.1:n.6229-4875T>G
ENST00000680826.1:c.3674T>G	ENSP00000505224.1:n.3674T>G
ENST00000680840.1:c.3717T>G	ENSP00000505809.1:n.3717T>G
ENST00000680965.1:c.*943T>G	ENSP00000505398.1:n.*943T>G
ENST00000681022.1:c.3489T>G	ENSP00000505121.1:p.Ser1163=
ENST00000681057.1:n.2744-4875T>G
ENST00000681196.1:n.4259-4875T>G
ENST00000681301.1:c.3336T>G	ENSP00000505093.1:p.Ser1112=
ENST00000681331.1:n.1218T>G
ENST00000681332.1:n.4006T>G
ENST00000681340.1:c.3489T>G	ENSP00000505666.1:p.Ser1163=
ENST00000681365.1:c.3489T>G	ENSP00000506604.1:p.Ser1163=
ENST00000681488.1:c.3358T>G	ENSP00000505884.1:n.3358T>G
ENST00000681522.1:c.3489T>G	ENSP00000506005.1:p.Ser1163=
ENST00000681556.1:n.3623T>G
ENST00000681718.1:c.*1976T>G	ENSP00000505266.1:n.*1976T>G
ENST00000681754.1:n.4177T>G
ENST00000681828.1:c.5045T>G	ENSP00000505608.1:n.5045T>G
ENST00000681841.1:c.3489T>G	ENSP00000504965.1:p.Ser1163=
ENST00000681860.1:c.3305T>G	ENSP00000506250.1:n.3305T>G
ENST00000265602.10:c.3489T>G	ENSP00000265602.6:p.Ser1163=
ENST00000367799.6:c.1985-4875T>G
ENST00000367800.8:c.3489T>G	ENSP00000356774.4:p.Ser1163=
ENST00000457866.6:c.3489T>G	ENSP00000388650.2:p.Ser1163=
ENST00000475846.6:c.1919T>G
ENST00000487135.1:n.155-4875T>G
ENST00000498558.5:n.338T>G
ENST00000527681.1:c.98T>G
NM_001134830.1:c.3489T>G	NP_001128302.1:p.Ser1163=
NM_001134831.1:c.3489T>G	NP_001128303.1:p.Ser1163=
NM_017651.4:c.3489T>G	NP_060121.3:p.Ser1163=
XM_011535910.1:c.3489T>G	XP_011534212.1:p.Ser1163=
XM_011535911.1:c.3489T>G	XP_011534213.1:p.Ser1163=
XM_011535914.1:c.*10T>G	XP_011534216.1:n.*10T>G
XM_011535915.1:c.3486-4875T>G	XP_011534217.1:n.3486-4875T>G
XR_942488.1:n.5331T>G
XR_942490.1:n.5328-4875T>G
XR_942493.1:n.5192T>G
XR_942494.1:n.5029T>G
NM_001350503.1:c.3489T>G	NP_001337432.1:p.Ser1163=
NM_001350504.1:c.3486-4875T>G	NP_001337433.1:n.3486-4875T>G
XM_011535910.3:c.3489T>G	XP_011534212.1:p.Ser1163=
XM_011535911.3:c.3489T>G	XP_011534213.1:p.Ser1163=
XM_017010980.2:c.*10T>G	XP_016866469.1:n.*10T>G
XM_017010981.2:c.3435T>G	XP_016866470.1:p.Ser1145=
XM_024446479.1:c.3435T>G	XP_024302247.1:p.Ser1145=
XR_001743479.2:n.5428T>G
XR_001743480.2:n.4256T>G
XR_001743481.2:n.4221T>G
XR_001743482.2:n.4124T>G
XR_001743483.2:n.5425-4875T>G
XR_001743484.2:n.5289T>G
XR_001743485.2:n.3985T>G
XR_001743486.2:n.5286-4875T>G
XR_001743487.2:n.5411T>G
XR_001743488.1:n.5653T>G
XR_001743489.2:n.5126T>G
XR_001743490.2:n.4107T>G
XR_002956286.1:n.3760T>G
XR_002956287.1:n.3757-4875T>G
NM_001134831.2:c.3489T>G MANE Select	NP_001128303.1:p.Ser1163=
NM_001134830.2:c.3489T>G	NP_001128302.1:p.Ser1163=
NM_001350503.2:c.3489T>G	NP_001337432.1:p.Ser1163=
NM_001350504.2:c.3486-4875T>G	NP_001337433.1:n.3486-4875T>G
NM_017651.5:c.3489T>G	NP_060121.3:p.Ser1163=