Canonical Allele Identifier: CA397394521

Gene: AIPL1

Linked Data

• ClinVar Variation Id: 2802626
• ClinVar RCV Id: RCV003614511
• gnomAD v4: 17-6425643-C-A
• MyVariant Identifiers: chr17:g.6328963C>A (hg19) ; chr17:g.6425643C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425643C>A , CM000679.2:g.6425643C>A	GRCh38
NC_000017.10:g.6328963C>A , CM000679.1:g.6328963C>A	GRCh37
NC_000017.9:g.6269687C>A	NCBI36
NG_008474.1:g.14557G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.972G>T MANE Select	ENSP00000370521.3:p.Arg324=
ENST00000250087.9:c.783G>T	ENSP00000250087.5:p.Arg261=
ENST00000381128.2:c.*844G>T	ENSP00000370520.2:n.*844G>T
ENST00000381129.7:c.972G>T	ENSP00000370521.3:p.Arg324=
ENST00000570466.5:c.906G>T	ENSP00000461287.1:p.Arg302=
ENST00000570584.5:c.251+8276G>T
ENST00000574506.5:c.936G>T	ENSP00000458456.1:p.Arg312=
ENST00000575265.5:c.*943G>T	ENSP00000459673.1:n.*943G>T
ENST00000576307.5:c.792G>T	ENSP00000459522.1:p.Arg264=
ENST00000576776.5:c.900G>T	ENSP00000460827.1:p.Arg300=
ENST00000621374.4:c.971G>T	ENSP00000481337.1:p.Gly324Val
NM_001033054.2:c.783G>T	NP_001028226.1:p.Arg261=
NM_001033055.2:c.792G>T	NP_001028227.1:p.Arg264=
NM_001285399.2:c.936G>T	NP_001272328.1:p.Arg312=
NM_001285400.2:c.906G>T	NP_001272329.1:p.Arg302=
NM_001285401.2:c.900G>T	NP_001272330.1:p.Arg300=
NM_001285402.1:c.855G>T	NP_001272331.1:p.Arg285=
NM_014336.4:c.972G>T	NP_055151.3:p.Arg324=
NM_001033054.3:c.783G>T	NP_001028226.1:p.Arg261=
NM_001033055.3:c.792G>T	NP_001028227.1:p.Arg264=
NM_001285399.3:c.936G>T	NP_001272328.1:p.Arg312=
NM_001285400.3:c.906G>T	NP_001272329.1:p.Arg302=
NM_001285401.3:c.900G>T	NP_001272330.1:p.Arg300=
NM_001285402.2:c.855G>T	NP_001272331.1:p.Arg285=
NM_001285403.3:c.*943G>T	NP_001272332.1:n.*943G>T
NM_014336.5:c.972G>T MANE Select	NP_055151.3:p.Arg324=
NM_001285403.4:c.*943G>T	NP_001272332.1:n.*943G>T