Canonical Allele Identifier: CA365840828

Gene: AHI1

Linked Data

• MyVariant Identifiers: chr6:g.135611631T>G (hg19) ; chr6:g.135290493T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.135290493T>G , CM000668.2:g.135290493T>G	GRCh38
NC_000006.11:g.135611631T>G , CM000668.1:g.135611631T>G	GRCh37
NC_000006.10:g.135653324T>G	NCBI36
NG_008643.1:g.212273A>C
NG_008643.2:g.212273A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265602.11:c.3518A>C MANE Select	ENSP00000265602.6:p.Asp1173Ala
ENST00000498558.6:n.559A>C
ENST00000527681.2:c.1187A>C
ENST00000679434.1:c.5134A>C	ENSP00000505592.1:n.5134A>C
ENST00000679450.1:c.3257A>C	ENSP00000506494.1:p.Asp1086Ala
ENST00000679490.1:n.2893A>C
ENST00000679502.1:n.2361-4846A>C
ENST00000679589.1:c.*3546A>C	ENSP00000506644.1:n.*3546A>C
ENST00000679668.1:c.5050A>C	ENSP00000505364.1:n.5050A>C
ENST00000679672.1:c.*1493A>C	ENSP00000505697.1:n.*1493A>C
ENST00000679711.1:c.1812A>C
ENST00000679742.1:c.4896-4846A>C	ENSP00000504890.1:n.4896-4846A>C
ENST00000679890.1:n.2009A>C
ENST00000679925.1:c.3486-4846A>C	ENSP00000505502.1:n.3486-4846A>C
ENST00000679943.1:c.3579A>C	ENSP00000505663.1:n.3579A>C
ENST00000680071.1:n.4291A>C
ENST00000680119.1:c.3743A>C	ENSP00000506403.1:n.3743A>C
ENST00000680328.1:n.627A>C
ENST00000680337.1:c.944-4846A>C
ENST00000680561.1:n.6229-4846A>C
ENST00000680826.1:c.3703A>C	ENSP00000505224.1:n.3703A>C
ENST00000680840.1:c.3746A>C	ENSP00000505809.1:n.3746A>C
ENST00000680965.1:c.*972A>C	ENSP00000505398.1:n.*972A>C
ENST00000681022.1:c.3518A>C	ENSP00000505121.1:p.Asp1173Ala
ENST00000681057.1:n.2744-4846A>C
ENST00000681196.1:n.4259-4846A>C
ENST00000681301.1:c.3365A>C	ENSP00000505093.1:p.Asp1122Ala
ENST00000681331.1:n.1247A>C
ENST00000681332.1:n.4035A>C
ENST00000681340.1:c.3518A>C	ENSP00000505666.1:p.Asp1173Ala
ENST00000681365.1:c.3518A>C	ENSP00000506604.1:p.Asp1173Ala
ENST00000681488.1:c.3387A>C	ENSP00000505884.1:n.3387A>C
ENST00000681522.1:c.3518A>C	ENSP00000506005.1:p.Asp1173Ala
ENST00000681556.1:n.3652A>C
ENST00000681718.1:c.*2005A>C	ENSP00000505266.1:n.*2005A>C
ENST00000681754.1:n.4206A>C
ENST00000681828.1:c.5074A>C	ENSP00000505608.1:n.5074A>C
ENST00000681841.1:c.3518A>C	ENSP00000504965.1:p.Asp1173Ala
ENST00000681860.1:c.3334A>C	ENSP00000506250.1:n.3334A>C
ENST00000265602.10:c.3518A>C	ENSP00000265602.6:p.Asp1173Ala
ENST00000367799.6:c.1985-4846A>C
ENST00000367800.8:c.3518A>C	ENSP00000356774.4:p.Asp1173Ala
ENST00000457866.6:c.3518A>C	ENSP00000388650.2:p.Asp1173Ala
ENST00000475846.6:c.1948A>C
ENST00000487135.1:n.155-4846A>C
ENST00000498558.5:n.367A>C
ENST00000527681.1:c.127A>C
NM_001134830.1:c.3518A>C	NP_001128302.1:p.Asp1173Ala
NM_001134831.1:c.3518A>C	NP_001128303.1:p.Asp1173Ala
NM_017651.4:c.3518A>C	NP_060121.3:p.Asp1173Ala
XM_011535910.1:c.3518A>C	XP_011534212.1:p.Asp1173Ala
XM_011535911.1:c.3518A>C	XP_011534213.1:p.Asp1173Ala
XM_011535914.1:c.*39A>C	XP_011534216.1:n.*39A>C
XM_011535915.1:c.3486-4846A>C	XP_011534217.1:n.3486-4846A>C
XR_942488.1:n.5360A>C
XR_942490.1:n.5328-4846A>C
XR_942493.1:n.5221A>C
XR_942494.1:n.5058A>C
NM_001350503.1:c.3518A>C	NP_001337432.1:p.Asp1173Ala
NM_001350504.1:c.3486-4846A>C	NP_001337433.1:n.3486-4846A>C
XM_011535910.3:c.3518A>C	XP_011534212.1:p.Asp1173Ala
XM_011535911.3:c.3518A>C	XP_011534213.1:p.Asp1173Ala
XM_017010980.2:c.*39A>C	XP_016866469.1:n.*39A>C
XM_017010981.2:c.3464A>C	XP_016866470.1:p.Asp1155Ala
XM_024446479.1:c.3464A>C	XP_024302247.1:p.Asp1155Ala
XR_001743479.2:n.5457A>C
XR_001743480.2:n.4285A>C
XR_001743481.2:n.4250A>C
XR_001743482.2:n.4153A>C
XR_001743483.2:n.5425-4846A>C
XR_001743484.2:n.5318A>C
XR_001743485.2:n.4014A>C
XR_001743486.2:n.5286-4846A>C
XR_001743487.2:n.5440A>C
XR_001743488.1:n.5682A>C
XR_001743489.2:n.5155A>C
XR_001743490.2:n.4136A>C
XR_002956286.1:n.3789A>C
XR_002956287.1:n.3757-4846A>C
NM_001134831.2:c.3518A>C MANE Select	NP_001128303.1:p.Asp1173Ala
NM_001134830.2:c.3518A>C	NP_001128302.1:p.Asp1173Ala
NM_001350503.2:c.3518A>C	NP_001337432.1:p.Asp1173Ala
NM_001350504.2:c.3486-4846A>C	NP_001337433.1:n.3486-4846A>C
NM_017651.5:c.3518A>C	NP_060121.3:p.Asp1173Ala