Canonical Allele Identifier: CA365742187

Gene: AHI1

Linked Data

• MyVariant Identifiers: chr6:g.135749818G>C (hg19) ; chr6:g.135428680G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.135428680G>C , CM000668.2:g.135428680G>C	GRCh38
NC_000006.11:g.135749818G>C , CM000668.1:g.135749818G>C	GRCh37
NC_000006.10:g.135791511G>C	NCBI36
NG_008643.1:g.74086C>G
NG_008643.2:g.74086C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265602.11:c.2572C>G MANE Select	ENSP00000265602.6:p.Leu858Val
ENST00000367799.7:c.1624C>G	ENSP00000356773.3:p.Leu542Val
ENST00000527681.2:c.245C>G
ENST00000679434.1:c.2757C>G	ENSP00000505592.1:n.2757C>G
ENST00000679450.1:c.2572C>G	ENSP00000506494.1:p.Leu858Val
ENST00000679476.1:c.257C>G
ENST00000679589.1:c.*2600C>G	ENSP00000506644.1:n.*2600C>G
ENST00000679622.1:c.2572C>G	ENSP00000506261.1:p.Leu858Val
ENST00000679668.1:c.2572C>G	ENSP00000505364.1:p.Leu858Val
ENST00000679672.1:c.2572C>G	ENSP00000505697.1:p.Leu858Val
ENST00000679711.1:c.744C>G
ENST00000679742.1:c.2572C>G	ENSP00000504890.1:p.Leu858Val
ENST00000679890.1:n.1063C>G
ENST00000679925.1:c.2572C>G	ENSP00000505502.1:p.Leu858Val
ENST00000679943.1:c.2572C>G	ENSP00000505663.1:p.Leu858Val
ENST00000680119.1:c.2527C>G	ENSP00000506403.1:n.2527C>G
ENST00000680184.1:c.2572C>G	ENSP00000506009.1:p.Leu858Val
ENST00000680278.1:c.2757C>G	ENSP00000506153.1:n.2757C>G
ENST00000680337.1:c.71C>G
ENST00000680561.1:n.5315C>G
ENST00000680656.1:c.2572C>G	ENSP00000505297.1:p.Leu858Val
ENST00000680826.1:c.2757C>G	ENSP00000505224.1:n.2757C>G
ENST00000680840.1:c.2572C>G	ENSP00000505809.1:p.Leu858Val
ENST00000680965.1:c.*26C>G	ENSP00000505398.1:n.*26C>G
ENST00000681022.1:c.2572C>G	ENSP00000505121.1:p.Leu858Val
ENST00000681057.1:n.2028C>G
ENST00000681301.1:c.2419C>G	ENSP00000505093.1:p.Leu807Val
ENST00000681332.1:n.3089C>G
ENST00000681340.1:c.2572C>G	ENSP00000505666.1:p.Leu858Val
ENST00000681365.1:c.2572C>G	ENSP00000506604.1:p.Leu858Val
ENST00000681477.1:c.*1359C>G	ENSP00000504989.1:n.*1359C>G
ENST00000681488.1:c.2492+1202C>G	ENSP00000505884.1:n.2492+1202C>G
ENST00000681522.1:c.2572C>G	ENSP00000506005.1:p.Leu858Val
ENST00000681670.1:c.2572C>G	ENSP00000504895.1:p.Leu858Val
ENST00000681718.1:c.2572C>G	ENSP00000505266.1:p.Leu858Val
ENST00000681756.1:c.2572C>G	ENSP00000506505.1:p.Leu858Val
ENST00000681828.1:c.2572C>G	ENSP00000505608.1:p.Leu858Val
ENST00000681841.1:c.2572C>G	ENSP00000504965.1:p.Leu858Val
ENST00000681860.1:c.2063C>G	ENSP00000506250.1:n.2063C>G
ENST00000681945.1:n.3040C>G
ENST00000265602.10:c.2572C>G	ENSP00000265602.6:p.Leu858Val
ENST00000327035.10:c.2572C>G	ENSP00000322478.6:p.Leu858Val
ENST00000367799.6:c.1071C>G
ENST00000367800.8:c.2572C>G	ENSP00000356774.4:p.Leu858Val
ENST00000457866.6:c.2572C>G	ENSP00000388650.2:p.Leu858Val
ENST00000475846.6:c.764C>G
ENST00000531788.5:c.*775C>G	ENSP00000432167.1:n.*775C>G
NM_001134830.1:c.2572C>G	NP_001128302.1:p.Leu858Val
NM_001134831.1:c.2572C>G	NP_001128303.1:p.Leu858Val
NM_001134832.1:c.2572C>G	NP_001128304.1:p.Leu858Val
NM_017651.4:c.2572C>G	NP_060121.3:p.Leu858Val
XM_011535910.1:c.2572C>G	XP_011534212.1:p.Leu858Val
XM_011535911.1:c.2572C>G	XP_011534213.1:p.Leu858Val
XM_011535912.1:c.2572C>G	XP_011534214.1:p.Leu858Val
XM_011535913.1:c.2572C>G	XP_011534215.1:p.Leu858Val
XM_011535914.1:c.2572C>G	XP_011534216.1:p.Leu858Val
XM_011535915.1:c.2572C>G	XP_011534217.1:p.Leu858Val
XM_011535916.1:c.2572C>G	XP_011534218.1:p.Leu858Val
XR_942488.1:n.2865C>G
XR_942489.1:n.2865C>G
XR_942490.1:n.2865C>G
XR_942491.1:n.2865C>G
XR_942493.1:n.2865C>G
XR_942494.1:n.2865C>G
XR_942495.1:n.2865C>G
NM_001350503.1:c.2572C>G	NP_001337432.1:p.Leu858Val
NM_001350504.1:c.2572C>G	NP_001337433.1:p.Leu858Val
XM_011535910.3:c.2572C>G	XP_011534212.1:p.Leu858Val
XM_011535911.3:c.2572C>G	XP_011534213.1:p.Leu858Val
XM_017010978.2:c.2572C>G	XP_016866467.1:p.Leu858Val
XM_017010979.2:c.2572C>G	XP_016866468.1:p.Leu858Val
XM_017010980.2:c.2572C>G	XP_016866469.1:p.Leu858Val
XM_017010981.2:c.2518C>G	XP_016866470.1:p.Leu840Val
XM_017010984.2:c.2572C>G	XP_016866473.1:p.Leu858Val
XM_024446479.1:c.2518C>G	XP_024302247.1:p.Leu840Val
XM_024446480.1:c.2572C>G	XP_024302248.1:p.Leu858Val
XR_001743479.2:n.2962C>G
XR_001743480.2:n.2962C>G
XR_001743481.2:n.2962C>G
XR_001743482.2:n.2962C>G
XR_001743483.2:n.2962C>G
XR_001743484.2:n.2962C>G
XR_001743485.2:n.2962C>G
XR_001743486.2:n.2962C>G
XR_001743487.2:n.2962C>G
XR_001743488.1:n.3204C>G
XR_001743489.2:n.2962C>G
XR_001743490.2:n.2962C>G
XR_002956286.1:n.2843C>G
XR_002956287.1:n.2843C>G
NM_001134831.2:c.2572C>G MANE Select	NP_001128303.1:p.Leu858Val
NM_001134830.2:c.2572C>G	NP_001128302.1:p.Leu858Val
NM_001134832.2:c.2572C>G	NP_001128304.1:p.Leu858Val
NM_001350503.2:c.2572C>G	NP_001337432.1:p.Leu858Val
NM_001350504.2:c.2572C>G	NP_001337433.1:p.Leu858Val
NM_017651.5:c.2572C>G	NP_060121.3:p.Leu858Val