Canonical Allele Identifier: CA365840704

Gene: AHI1

Linked Data

• MyVariant Identifiers: chr6:g.135611600C>G (hg19) ; chr6:g.135290462C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.135290462C>G , CM000668.2:g.135290462C>G	GRCh38
NC_000006.11:g.135611600C>G , CM000668.1:g.135611600C>G	GRCh37
NC_000006.10:g.135653293C>G	NCBI36
NG_008643.1:g.212304G>C
NG_008643.2:g.212304G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265602.11:c.3549G>C MANE Select	ENSP00000265602.6:p.Arg1183Ser
ENST00000498558.6:n.590G>C
ENST00000527681.2:c.1218G>C
ENST00000679434.1:c.5165G>C	ENSP00000505592.1:n.5165G>C
ENST00000679450.1:c.3288G>C	ENSP00000506494.1:p.Arg1096Ser
ENST00000679490.1:n.2924G>C
ENST00000679502.1:n.2361-4815G>C
ENST00000679589.1:c.*3577G>C	ENSP00000506644.1:n.*3577G>C
ENST00000679668.1:c.5081G>C	ENSP00000505364.1:n.5081G>C
ENST00000679672.1:c.*1524G>C	ENSP00000505697.1:n.*1524G>C
ENST00000679711.1:c.1843G>C
ENST00000679742.1:c.4896-4815G>C	ENSP00000504890.1:n.4896-4815G>C
ENST00000679890.1:n.2040G>C
ENST00000679925.1:c.3486-4815G>C	ENSP00000505502.1:n.3486-4815G>C
ENST00000679943.1:c.3610G>C	ENSP00000505663.1:n.3610G>C
ENST00000680071.1:n.4322G>C
ENST00000680119.1:c.3774G>C	ENSP00000506403.1:n.3774G>C
ENST00000680328.1:n.658G>C
ENST00000680337.1:c.944-4815G>C
ENST00000680561.1:n.6229-4815G>C
ENST00000680826.1:c.3734G>C	ENSP00000505224.1:n.3734G>C
ENST00000680840.1:c.3777G>C	ENSP00000505809.1:n.3777G>C
ENST00000680965.1:c.*1003G>C	ENSP00000505398.1:n.*1003G>C
ENST00000681022.1:c.3549G>C	ENSP00000505121.1:p.Arg1183Ser
ENST00000681057.1:n.2744-4815G>C
ENST00000681196.1:n.4259-4815G>C
ENST00000681301.1:c.3396G>C	ENSP00000505093.1:p.Arg1132Ser
ENST00000681331.1:n.1278G>C
ENST00000681332.1:n.4066G>C
ENST00000681340.1:c.3549G>C	ENSP00000505666.1:p.Arg1183Ser
ENST00000681365.1:c.3549G>C	ENSP00000506604.1:p.Arg1183Ser
ENST00000681488.1:c.3418G>C	ENSP00000505884.1:n.3418G>C
ENST00000681522.1:c.3549G>C	ENSP00000506005.1:p.Arg1183Ser
ENST00000681556.1:n.3683G>C
ENST00000681718.1:c.*2036G>C	ENSP00000505266.1:n.*2036G>C
ENST00000681754.1:n.4237G>C
ENST00000681828.1:c.5105G>C	ENSP00000505608.1:n.5105G>C
ENST00000681841.1:c.3549G>C	ENSP00000504965.1:p.Arg1183Ser
ENST00000681860.1:c.3365G>C	ENSP00000506250.1:n.3365G>C
ENST00000265602.10:c.3549G>C	ENSP00000265602.6:p.Arg1183Ser
ENST00000367799.6:c.1985-4815G>C
ENST00000367800.8:c.3549G>C	ENSP00000356774.4:p.Arg1183Ser
ENST00000457866.6:c.3549G>C	ENSP00000388650.2:p.Arg1183Ser
ENST00000475846.6:c.1979G>C
ENST00000487135.1:n.155-4815G>C
ENST00000498558.5:n.398G>C
ENST00000527681.1:c.158G>C
NM_001134830.1:c.3549G>C	NP_001128302.1:p.Arg1183Ser
NM_001134831.1:c.3549G>C	NP_001128303.1:p.Arg1183Ser
NM_017651.4:c.3549G>C	NP_060121.3:p.Arg1183Ser
XM_011535910.1:c.3549G>C	XP_011534212.1:p.Arg1183Ser
XM_011535911.1:c.3549G>C	XP_011534213.1:p.Arg1183Ser
XM_011535914.1:c.*70G>C	XP_011534216.1:n.*70G>C
XM_011535915.1:c.3486-4815G>C	XP_011534217.1:n.3486-4815G>C
XR_942488.1:n.5391G>C
XR_942490.1:n.5328-4815G>C
XR_942493.1:n.5252G>C
XR_942494.1:n.5089G>C
NM_001350503.1:c.3549G>C	NP_001337432.1:p.Arg1183Ser
NM_001350504.1:c.3486-4815G>C	NP_001337433.1:n.3486-4815G>C
XM_011535910.3:c.3549G>C	XP_011534212.1:p.Arg1183Ser
XM_011535911.3:c.3549G>C	XP_011534213.1:p.Arg1183Ser
XM_017010980.2:c.*70G>C	XP_016866469.1:n.*70G>C
XM_017010981.2:c.3495G>C	XP_016866470.1:p.Arg1165Ser
XM_024446479.1:c.3495G>C	XP_024302247.1:p.Arg1165Ser
XR_001743479.2:n.5488G>C
XR_001743480.2:n.4316G>C
XR_001743481.2:n.4281G>C
XR_001743482.2:n.4184G>C
XR_001743483.2:n.5425-4815G>C
XR_001743484.2:n.5349G>C
XR_001743485.2:n.4045G>C
XR_001743486.2:n.5286-4815G>C
XR_001743487.2:n.5471G>C
XR_001743488.1:n.5713G>C
XR_001743489.2:n.5186G>C
XR_001743490.2:n.4167G>C
XR_002956286.1:n.3820G>C
XR_002956287.1:n.3757-4815G>C
NM_001134831.2:c.3549G>C MANE Select	NP_001128303.1:p.Arg1183Ser
NM_001134830.2:c.3549G>C	NP_001128302.1:p.Arg1183Ser
NM_001350503.2:c.3549G>C	NP_001337432.1:p.Arg1183Ser
NM_001350504.2:c.3486-4815G>C	NP_001337433.1:n.3486-4815G>C
NM_017651.5:c.3549G>C	NP_060121.3:p.Arg1183Ser