Canonical Allele Identifier: CA397394220

Gene: AIPL1

Linked Data

• ClinVar Variation Id: 1916632
• ClinVar RCV Id: RCV002590571
• gnomAD v4: 17-6425492-G-T
• MyVariant Identifiers: chr17:g.6328812G>T (hg19) ; chr17:g.6425492G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425492G>T , CM000679.2:g.6425492G>T	GRCh38
NC_000017.10:g.6328812G>T , CM000679.1:g.6328812G>T	GRCh37
NC_000017.9:g.6269536G>T	NCBI36
NG_008474.1:g.14708C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.1123C>A MANE Select	ENSP00000370521.3:p.Pro375Thr
ENST00000250087.9:c.934C>A	ENSP00000250087.5:p.Pro312Thr
ENST00000381128.2:c.*995C>A	ENSP00000370520.2:n.*995C>A
ENST00000381129.7:c.1123C>A	ENSP00000370521.3:p.Pro375Thr
ENST00000570466.5:c.1057C>A	ENSP00000461287.1:p.Pro353Thr
ENST00000570584.5:c.251+8427C>A
ENST00000574506.5:c.1087C>A	ENSP00000458456.1:p.Pro363Thr
ENST00000575265.5:c.*1094C>A	ENSP00000459673.1:n.*1094C>A
ENST00000576307.5:c.943C>A	ENSP00000459522.1:p.Pro315Thr
ENST00000576776.5:c.1051C>A	ENSP00000460827.1:p.Pro351Thr
ENST00000621374.4:c.*141C>A	ENSP00000481337.1:n.*141C>A
NM_001033054.2:c.934C>A	NP_001028226.1:p.Pro312Thr
NM_001033055.2:c.943C>A	NP_001028227.1:p.Pro315Thr
NM_001285399.2:c.1087C>A	NP_001272328.1:p.Pro363Thr
NM_001285400.2:c.1057C>A	NP_001272329.1:p.Pro353Thr
NM_001285401.2:c.1051C>A	NP_001272330.1:p.Pro351Thr
NM_001285402.1:c.1006C>A	NP_001272331.1:p.Pro336Thr
NM_014336.4:c.1123C>A	NP_055151.3:p.Pro375Thr
NM_001033054.3:c.934C>A	NP_001028226.1:p.Pro312Thr
NM_001033055.3:c.943C>A	NP_001028227.1:p.Pro315Thr
NM_001285399.3:c.1087C>A	NP_001272328.1:p.Pro363Thr
NM_001285400.3:c.1057C>A	NP_001272329.1:p.Pro353Thr
NM_001285401.3:c.1051C>A	NP_001272330.1:p.Pro351Thr
NM_001285402.2:c.1006C>A	NP_001272331.1:p.Pro336Thr
NM_001285403.3:c.*1094C>A	NP_001272332.1:n.*1094C>A
NM_014336.5:c.1123C>A MANE Select	NP_055151.3:p.Pro375Thr
NM_001285403.4:c.*1094C>A	NP_001272332.1:n.*1094C>A