Canonical Allele Identifier: CA397394431

Gene: AIPL1

Linked Data

• gnomAD v4: 17-6425602-G-T
• MyVariant Identifiers: chr17:g.6328922G>T (hg19) ; chr17:g.6425602G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425602G>T , CM000679.2:g.6425602G>T	GRCh38
NC_000017.10:g.6328922G>T , CM000679.1:g.6328922G>T	GRCh37
NC_000017.9:g.6269646G>T	NCBI36
NG_008474.1:g.14598C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.1013C>A MANE Select	ENSP00000370521.3:p.Pro338Gln
ENST00000250087.9:c.824C>A	ENSP00000250087.5:p.Pro275Gln
ENST00000381128.2:c.*885C>A	ENSP00000370520.2:n.*885C>A
ENST00000381129.7:c.1013C>A	ENSP00000370521.3:p.Pro338Gln
ENST00000570466.5:c.947C>A	ENSP00000461287.1:p.Pro316Gln
ENST00000570584.5:c.251+8317C>A
ENST00000574506.5:c.977C>A	ENSP00000458456.1:p.Pro326Gln
ENST00000575265.5:c.*984C>A	ENSP00000459673.1:n.*984C>A
ENST00000576307.5:c.833C>A	ENSP00000459522.1:p.Pro278Gln
ENST00000576776.5:c.941C>A	ENSP00000460827.1:p.Pro314Gln
ENST00000621374.4:c.*31C>A	ENSP00000481337.1:n.*31C>A
NM_001033054.2:c.824C>A	NP_001028226.1:p.Pro275Gln
NM_001033055.2:c.833C>A	NP_001028227.1:p.Pro278Gln
NM_001285399.2:c.977C>A	NP_001272328.1:p.Pro326Gln
NM_001285400.2:c.947C>A	NP_001272329.1:p.Pro316Gln
NM_001285401.2:c.941C>A	NP_001272330.1:p.Pro314Gln
NM_001285402.1:c.896C>A	NP_001272331.1:p.Pro299Gln
NM_014336.4:c.1013C>A	NP_055151.3:p.Pro338Gln
NM_001033054.3:c.824C>A	NP_001028226.1:p.Pro275Gln
NM_001033055.3:c.833C>A	NP_001028227.1:p.Pro278Gln
NM_001285399.3:c.977C>A	NP_001272328.1:p.Pro326Gln
NM_001285400.3:c.947C>A	NP_001272329.1:p.Pro316Gln
NM_001285401.3:c.941C>A	NP_001272330.1:p.Pro314Gln
NM_001285402.2:c.896C>A	NP_001272331.1:p.Pro299Gln
NM_001285403.3:c.*984C>A	NP_001272332.1:n.*984C>A
NM_014336.5:c.1013C>A MANE Select	NP_055151.3:p.Pro338Gln
NM_001285403.4:c.*984C>A	NP_001272332.1:n.*984C>A