Canonical Allele Identifier: CA397394562

Gene: AIPL1

Linked Data

• dbSNP Id: rs1329079300
• gnomAD v2: 17-6328980-C-T
• gnomAD v3: 17-6425660-C-T
• gnomAD v4: 17-6425660-C-T
• MyVariant Identifiers: chr17:g.6328980C>T (hg19) ; chr17:g.6425660C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425660C>T , CM000679.2:g.6425660C>T	GRCh38
NC_000017.10:g.6328980C>T , CM000679.1:g.6328980C>T	GRCh37
NC_000017.9:g.6269704C>T	NCBI36
NG_008474.1:g.14540G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.955G>A MANE Select	ENSP00000370521.3:p.Glu319Lys
ENST00000250087.9:c.766G>A	ENSP00000250087.5:p.Glu256Lys
ENST00000381128.2:c.*827G>A	ENSP00000370520.2:n.*827G>A
ENST00000381129.7:c.955G>A	ENSP00000370521.3:p.Glu319Lys
ENST00000570466.5:c.889G>A	ENSP00000461287.1:p.Glu297Lys
ENST00000570584.5:c.251+8259G>A
ENST00000574506.5:c.919G>A	ENSP00000458456.1:p.Glu307Lys
ENST00000575265.5:c.*926G>A	ENSP00000459673.1:n.*926G>A
ENST00000576307.5:c.775G>A	ENSP00000459522.1:p.Glu259Lys
ENST00000576776.5:c.883G>A	ENSP00000460827.1:p.Glu295Lys
ENST00000621374.4:c.954G>A	ENSP00000481337.1:p.Arg318=
NM_001033054.2:c.766G>A	NP_001028226.1:p.Glu256Lys
NM_001033055.2:c.775G>A	NP_001028227.1:p.Glu259Lys
NM_001285399.2:c.919G>A	NP_001272328.1:p.Glu307Lys
NM_001285400.2:c.889G>A	NP_001272329.1:p.Glu297Lys
NM_001285401.2:c.883G>A	NP_001272330.1:p.Glu295Lys
NM_001285402.1:c.838G>A	NP_001272331.1:p.Glu280Lys
NM_014336.4:c.955G>A	NP_055151.3:p.Glu319Lys
NM_001033054.3:c.766G>A	NP_001028226.1:p.Glu256Lys
NM_001033055.3:c.775G>A	NP_001028227.1:p.Glu259Lys
NM_001285399.3:c.919G>A	NP_001272328.1:p.Glu307Lys
NM_001285400.3:c.889G>A	NP_001272329.1:p.Glu297Lys
NM_001285401.3:c.883G>A	NP_001272330.1:p.Glu295Lys
NM_001285402.2:c.838G>A	NP_001272331.1:p.Glu280Lys
NM_001285403.3:c.*926G>A	NP_001272332.1:n.*926G>A
NM_014336.5:c.955G>A MANE Select	NP_055151.3:p.Glu319Lys
NM_001285403.4:c.*926G>A	NP_001272332.1:n.*926G>A