Canonical Allele Identifier: CA397394451

Gene: AIPL1

Linked Data

• gnomAD v4: 17-6425612-G-T
• MyVariant Identifiers: chr17:g.6328932G>T (hg19) ; chr17:g.6425612G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425612G>T , CM000679.2:g.6425612G>T	GRCh38
NC_000017.10:g.6328932G>T , CM000679.1:g.6328932G>T	GRCh37
NC_000017.9:g.6269656G>T	NCBI36
NG_008474.1:g.14588C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.1003C>A MANE Select	ENSP00000370521.3:p.Pro335Thr
ENST00000250087.9:c.814C>A	ENSP00000250087.5:p.Pro272Thr
ENST00000381128.2:c.*875C>A	ENSP00000370520.2:n.*875C>A
ENST00000381129.7:c.1003C>A	ENSP00000370521.3:p.Pro335Thr
ENST00000570466.5:c.937C>A	ENSP00000461287.1:p.Pro313Thr
ENST00000570584.5:c.251+8307C>A
ENST00000574506.5:c.967C>A	ENSP00000458456.1:p.Pro323Thr
ENST00000575265.5:c.*974C>A	ENSP00000459673.1:n.*974C>A
ENST00000576307.5:c.823C>A	ENSP00000459522.1:p.Pro275Thr
ENST00000576776.5:c.931C>A	ENSP00000460827.1:p.Pro311Thr
ENST00000621374.4:c.*21C>A	ENSP00000481337.1:n.*21C>A
NM_001033054.2:c.814C>A	NP_001028226.1:p.Pro272Thr
NM_001033055.2:c.823C>A	NP_001028227.1:p.Pro275Thr
NM_001285399.2:c.967C>A	NP_001272328.1:p.Pro323Thr
NM_001285400.2:c.937C>A	NP_001272329.1:p.Pro313Thr
NM_001285401.2:c.931C>A	NP_001272330.1:p.Pro311Thr
NM_001285402.1:c.886C>A	NP_001272331.1:p.Pro296Thr
NM_014336.4:c.1003C>A	NP_055151.3:p.Pro335Thr
NM_001033054.3:c.814C>A	NP_001028226.1:p.Pro272Thr
NM_001033055.3:c.823C>A	NP_001028227.1:p.Pro275Thr
NM_001285399.3:c.967C>A	NP_001272328.1:p.Pro323Thr
NM_001285400.3:c.937C>A	NP_001272329.1:p.Pro313Thr
NM_001285401.3:c.931C>A	NP_001272330.1:p.Pro311Thr
NM_001285402.2:c.886C>A	NP_001272331.1:p.Pro296Thr
NM_001285403.3:c.*974C>A	NP_001272332.1:n.*974C>A
NM_014336.5:c.1003C>A MANE Select	NP_055151.3:p.Pro335Thr
NM_001285403.4:c.*974C>A	NP_001272332.1:n.*974C>A