Canonical Allele Identifier: CA397394299

Gene: AIPL1

Linked Data

• ClinVar Variation Id: 1010399
• ClinVar RCV Id: RCV001308018
• dbSNP Id: rs1278686032
• gnomAD v2: 17-6328854-C-T
• gnomAD v4: 17-6425534-C-T
• MyVariant Identifiers: chr17:g.6328854C>T (hg19) ; chr17:g.6425534C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425534C>T , CM000679.2:g.6425534C>T	GRCh38
NC_000017.10:g.6328854C>T , CM000679.1:g.6328854C>T	GRCh37
NC_000017.9:g.6269578C>T	NCBI36
NG_008474.1:g.14666G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.1081G>A MANE Select	ENSP00000370521.3:p.Glu361Lys
ENST00000250087.9:c.892G>A	ENSP00000250087.5:p.Glu298Lys
ENST00000381128.2:c.*953G>A	ENSP00000370520.2:n.*953G>A
ENST00000381129.7:c.1081G>A	ENSP00000370521.3:p.Glu361Lys
ENST00000570466.5:c.1015G>A	ENSP00000461287.1:p.Glu339Lys
ENST00000570584.5:c.251+8385G>A
ENST00000574506.5:c.1045G>A	ENSP00000458456.1:p.Glu349Lys
ENST00000575265.5:c.*1052G>A	ENSP00000459673.1:n.*1052G>A
ENST00000576307.5:c.901G>A	ENSP00000459522.1:p.Glu301Lys
ENST00000576776.5:c.1009G>A	ENSP00000460827.1:p.Glu337Lys
ENST00000621374.4:c.*99G>A	ENSP00000481337.1:n.*99G>A
NM_001033054.2:c.892G>A	NP_001028226.1:p.Glu298Lys
NM_001033055.2:c.901G>A	NP_001028227.1:p.Glu301Lys
NM_001285399.2:c.1045G>A	NP_001272328.1:p.Glu349Lys
NM_001285400.2:c.1015G>A	NP_001272329.1:p.Glu339Lys
NM_001285401.2:c.1009G>A	NP_001272330.1:p.Glu337Lys
NM_001285402.1:c.964G>A	NP_001272331.1:p.Glu322Lys
NM_014336.4:c.1081G>A	NP_055151.3:p.Glu361Lys
NM_001033054.3:c.892G>A	NP_001028226.1:p.Glu298Lys
NM_001033055.3:c.901G>A	NP_001028227.1:p.Glu301Lys
NM_001285399.3:c.1045G>A	NP_001272328.1:p.Glu349Lys
NM_001285400.3:c.1015G>A	NP_001272329.1:p.Glu339Lys
NM_001285401.3:c.1009G>A	NP_001272330.1:p.Glu337Lys
NM_001285402.2:c.964G>A	NP_001272331.1:p.Glu322Lys
NM_001285403.3:c.*1052G>A	NP_001272332.1:n.*1052G>A
NM_014336.5:c.1081G>A MANE Select	NP_055151.3:p.Glu361Lys
NM_001285403.4:c.*1052G>A	NP_001272332.1:n.*1052G>A