Canonical Allele Identifier: CA8328320

Gene: AIPL1

Linked Data

• ClinVar Variation Id: 1061399
• ClinVar RCV Id: RCV001370973
• dbSNP Id: rs766639726
• ExAC: 17:6328874 G / A
• gnomAD v2: 17-6328874-G-A
• gnomAD v4: 17-6425554-G-A
• MyVariant Identifiers: chr17:g.6328874G>A (hg19) ; chr17:g.6425554G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425554G>A , CM000679.2:g.6425554G>A	GRCh38
NC_000017.10:g.6328874G>A , CM000679.1:g.6328874G>A	GRCh37
NC_000017.9:g.6269598G>A	NCBI36
NG_008474.1:g.14646C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.1061C>T MANE Select	ENSP00000370521.3:p.Pro354Leu
ENST00000250087.9:c.872C>T	ENSP00000250087.5:p.Pro291Leu
ENST00000381128.2:c.*933C>T	ENSP00000370520.2:n.*933C>T
ENST00000381129.7:c.1061C>T	ENSP00000370521.3:p.Pro354Leu
ENST00000570466.5:c.995C>T	ENSP00000461287.1:p.Pro332Leu
ENST00000570584.5:c.251+8365C>T
ENST00000574506.5:c.1025C>T	ENSP00000458456.1:p.Pro342Leu
ENST00000575265.5:c.*1032C>T	ENSP00000459673.1:n.*1032C>T
ENST00000576307.5:c.881C>T	ENSP00000459522.1:p.Pro294Leu
ENST00000576776.5:c.989C>T	ENSP00000460827.1:p.Pro330Leu
ENST00000621374.4:c.*79C>T	ENSP00000481337.1:n.*79C>T
NM_001033054.2:c.872C>T	NP_001028226.1:p.Pro291Leu
NM_001033055.2:c.881C>T	NP_001028227.1:p.Pro294Leu
NM_001285399.2:c.1025C>T	NP_001272328.1:p.Pro342Leu
NM_001285400.2:c.995C>T	NP_001272329.1:p.Pro332Leu
NM_001285401.2:c.989C>T	NP_001272330.1:p.Pro330Leu
NM_001285402.1:c.944C>T	NP_001272331.1:p.Pro315Leu
NM_014336.4:c.1061C>T	NP_055151.3:p.Pro354Leu
NM_001033054.3:c.872C>T	NP_001028226.1:p.Pro291Leu
NM_001033055.3:c.881C>T	NP_001028227.1:p.Pro294Leu
NM_001285399.3:c.1025C>T	NP_001272328.1:p.Pro342Leu
NM_001285400.3:c.995C>T	NP_001272329.1:p.Pro332Leu
NM_001285401.3:c.989C>T	NP_001272330.1:p.Pro330Leu
NM_001285402.2:c.944C>T	NP_001272331.1:p.Pro315Leu
NM_001285403.3:c.*1032C>T	NP_001272332.1:n.*1032C>T
NM_014336.5:c.1061C>T MANE Select	NP_055151.3:p.Pro354Leu
NM_001285403.4:c.*1032C>T	NP_001272332.1:n.*1032C>T