Canonical Allele Identifier: CA397394302

Gene: AIPL1

Linked Data

• MyVariant Identifiers: chr17:g.6328856G>A (hg19) ; chr17:g.6425536G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425536G>A , CM000679.2:g.6425536G>A	GRCh38
NC_000017.10:g.6328856G>A , CM000679.1:g.6328856G>A	GRCh37
NC_000017.9:g.6269580G>A	NCBI36
NG_008474.1:g.14664C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.1079C>T MANE Select	ENSP00000370521.3:p.Ala360Val
ENST00000250087.9:c.890C>T	ENSP00000250087.5:p.Ala297Val
ENST00000381128.2:c.*951C>T	ENSP00000370520.2:n.*951C>T
ENST00000381129.7:c.1079C>T	ENSP00000370521.3:p.Ala360Val
ENST00000570466.5:c.1013C>T	ENSP00000461287.1:p.Ala338Val
ENST00000570584.5:c.251+8383C>T
ENST00000574506.5:c.1043C>T	ENSP00000458456.1:p.Ala348Val
ENST00000575265.5:c.*1050C>T	ENSP00000459673.1:n.*1050C>T
ENST00000576307.5:c.899C>T	ENSP00000459522.1:p.Ala300Val
ENST00000576776.5:c.1007C>T	ENSP00000460827.1:p.Ala336Val
ENST00000621374.4:c.*97C>T	ENSP00000481337.1:n.*97C>T
NM_001033054.2:c.890C>T	NP_001028226.1:p.Ala297Val
NM_001033055.2:c.899C>T	NP_001028227.1:p.Ala300Val
NM_001285399.2:c.1043C>T	NP_001272328.1:p.Ala348Val
NM_001285400.2:c.1013C>T	NP_001272329.1:p.Ala338Val
NM_001285401.2:c.1007C>T	NP_001272330.1:p.Ala336Val
NM_001285402.1:c.962C>T	NP_001272331.1:p.Ala321Val
NM_014336.4:c.1079C>T	NP_055151.3:p.Ala360Val
NM_001033054.3:c.890C>T	NP_001028226.1:p.Ala297Val
NM_001033055.3:c.899C>T	NP_001028227.1:p.Ala300Val
NM_001285399.3:c.1043C>T	NP_001272328.1:p.Ala348Val
NM_001285400.3:c.1013C>T	NP_001272329.1:p.Ala338Val
NM_001285401.3:c.1007C>T	NP_001272330.1:p.Ala336Val
NM_001285402.2:c.962C>T	NP_001272331.1:p.Ala321Val
NM_001285403.3:c.*1050C>T	NP_001272332.1:n.*1050C>T
NM_014336.5:c.1079C>T MANE Select	NP_055151.3:p.Ala360Val
NM_001285403.4:c.*1050C>T	NP_001272332.1:n.*1050C>T