Canonical Allele Identifier: CA452341386

Gene: AHI1

Linked Data

• gnomAD v4: 6-135290444-G-A
• MyVariant Identifiers: chr6:g.135611582G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.135290444G>A , CM000668.2:g.135290444G>A	GRCh38
NC_000006.11:g.135611582G>A , CM000668.1:g.135611582G>A	GRCh37
NC_000006.10:g.135653275G>A	NCBI36
NG_008643.1:g.212322C>T
NG_008643.2:g.212322C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265602.11:c.3567C>T MANE Select	ENSP00000265602.6:p.Gly1189=
ENST00000498558.6:n.608C>T
ENST00000527681.2:c.1236C>T
ENST00000679434.1:c.5183C>T	ENSP00000505592.1:n.5183C>T
ENST00000679450.1:c.3306C>T	ENSP00000506494.1:p.Gly1102=
ENST00000679490.1:n.2942C>T
ENST00000679502.1:n.2361-4797C>T
ENST00000679589.1:c.*3595C>T	ENSP00000506644.1:n.*3595C>T
ENST00000679668.1:c.5099C>T	ENSP00000505364.1:n.5099C>T
ENST00000679672.1:c.*1542C>T	ENSP00000505697.1:n.*1542C>T
ENST00000679711.1:c.1861C>T
ENST00000679742.1:c.4896-4797C>T	ENSP00000504890.1:n.4896-4797C>T
ENST00000679890.1:n.2058C>T
ENST00000679925.1:c.3486-4797C>T	ENSP00000505502.1:n.3486-4797C>T
ENST00000679943.1:c.3628C>T	ENSP00000505663.1:n.3628C>T
ENST00000680071.1:n.4340C>T
ENST00000680119.1:c.3792C>T	ENSP00000506403.1:n.3792C>T
ENST00000680328.1:n.676C>T
ENST00000680337.1:c.944-4797C>T
ENST00000680561.1:n.6229-4797C>T
ENST00000680826.1:c.3752C>T	ENSP00000505224.1:n.3752C>T
ENST00000680840.1:c.3795C>T	ENSP00000505809.1:n.3795C>T
ENST00000680965.1:c.*1021C>T	ENSP00000505398.1:n.*1021C>T
ENST00000681022.1:c.3567C>T	ENSP00000505121.1:p.Gly1189=
ENST00000681057.1:n.2744-4797C>T
ENST00000681196.1:n.4259-4797C>T
ENST00000681301.1:c.3414C>T	ENSP00000505093.1:p.Gly1138=
ENST00000681331.1:n.1296C>T
ENST00000681332.1:n.4084C>T
ENST00000681340.1:c.3567C>T	ENSP00000505666.1:p.Gly1189=
ENST00000681365.1:c.3567C>T	ENSP00000506604.1:p.Gly1189=
ENST00000681488.1:c.3436C>T	ENSP00000505884.1:n.3436C>T
ENST00000681522.1:c.3567C>T	ENSP00000506005.1:p.Gly1189=
ENST00000681556.1:n.3701C>T
ENST00000681718.1:c.*2054C>T	ENSP00000505266.1:n.*2054C>T
ENST00000681754.1:n.4255C>T
ENST00000681828.1:c.5123C>T	ENSP00000505608.1:n.5123C>T
ENST00000681841.1:c.3567C>T	ENSP00000504965.1:p.Gly1189=
ENST00000681860.1:c.3383C>T	ENSP00000506250.1:n.3383C>T
ENST00000265602.10:c.3567C>T	ENSP00000265602.6:p.Gly1189=
ENST00000367799.6:c.1985-4797C>T
ENST00000367800.8:c.3567C>T	ENSP00000356774.4:p.Gly1189=
ENST00000457866.6:c.3567C>T	ENSP00000388650.2:p.Gly1189=
ENST00000475846.6:c.1997C>T
ENST00000487135.1:n.155-4797C>T
ENST00000498558.5:n.416C>T
ENST00000527681.1:c.176C>T
NM_001134830.1:c.3567C>T	NP_001128302.1:p.Gly1189=
NM_001134831.1:c.3567C>T	NP_001128303.1:p.Gly1189=
NM_017651.4:c.3567C>T	NP_060121.3:p.Gly1189=
XM_011535910.1:c.3567C>T	XP_011534212.1:p.Gly1189=
XM_011535911.1:c.3567C>T	XP_011534213.1:p.Gly1189=
XM_011535914.1:c.*88C>T	XP_011534216.1:n.*88C>T
XM_011535915.1:c.3486-4797C>T	XP_011534217.1:n.3486-4797C>T
XR_942488.1:n.5409C>T
XR_942490.1:n.5328-4797C>T
XR_942493.1:n.5270C>T
XR_942494.1:n.5107C>T
NM_001350503.1:c.3567C>T	NP_001337432.1:p.Gly1189=
NM_001350504.1:c.3486-4797C>T	NP_001337433.1:n.3486-4797C>T
XM_011535910.3:c.3567C>T	XP_011534212.1:p.Gly1189=
XM_011535911.3:c.3567C>T	XP_011534213.1:p.Gly1189=
XM_017010980.2:c.*88C>T	XP_016866469.1:n.*88C>T
XM_017010981.2:c.3513C>T	XP_016866470.1:p.Gly1171=
XM_024446479.1:c.3513C>T	XP_024302247.1:p.Gly1171=
XR_001743479.2:n.5506C>T
XR_001743480.2:n.4334C>T
XR_001743481.2:n.4299C>T
XR_001743482.2:n.4202C>T
XR_001743483.2:n.5425-4797C>T
XR_001743484.2:n.5367C>T
XR_001743485.2:n.4063C>T
XR_001743486.2:n.5286-4797C>T
XR_001743487.2:n.5489C>T
XR_001743488.1:n.5731C>T
XR_001743489.2:n.5204C>T
XR_001743490.2:n.4185C>T
XR_002956286.1:n.3838C>T
XR_002956287.1:n.3757-4797C>T
NM_001134831.2:c.3567C>T MANE Select	NP_001128303.1:p.Gly1189=
NM_001134830.2:c.3567C>T	NP_001128302.1:p.Gly1189=
NM_001350503.2:c.3567C>T	NP_001337432.1:p.Gly1189=
NM_001350504.2:c.3486-4797C>T	NP_001337433.1:n.3486-4797C>T
NM_017651.5:c.3567C>T	NP_060121.3:p.Gly1189=