Canonical Allele Identifier: CA287323608

Gene: AIPL1

Linked Data

• ClinVar Variation Id: 891529
• ClinVar RCV Id: RCV001126875 ; RCV001127269
• dbSNP Id: rs953523528
• gnomAD v3: 17-6425348-T-A
• gnomAD v4: 17-6425348-T-A
• MyVariant Identifiers: chr17:g.6328668T>A (hg19) ; chr17:g.6425348T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425348T>A , CM000679.2:g.6425348T>A	GRCh38
NC_000017.10:g.6328668T>A , CM000679.1:g.6328668T>A	GRCh37
NC_000017.9:g.6269392T>A	NCBI36
NG_008474.1:g.14852A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.*112A>T MANE Select	ENSP00000370521.3:n.*112A>T
ENST00000250087.9:c.*112A>T	ENSP00000250087.5:n.*112A>T
ENST00000381128.2:c.*1139A>T	ENSP00000370520.2:n.*1139A>T
ENST00000381129.7:c.*112A>T	ENSP00000370521.3:n.*112A>T
ENST00000570584.5:c.251+8571A>T
ENST00000574506.5:c.*112A>T	ENSP00000458456.1:n.*112A>T
ENST00000575265.5:c.*1238A>T	ENSP00000459673.1:n.*1238A>T
NM_001033054.2:c.*112A>T	NP_001028226.1:n.*112A>T
NM_001033055.2:c.*112A>T	NP_001028227.1:n.*112A>T
NM_001285399.2:c.*112A>T	NP_001272328.1:n.*112A>T
NM_001285400.2:c.*112A>T	NP_001272329.1:n.*112A>T
NM_001285401.2:c.*112A>T	NP_001272330.1:n.*112A>T
NM_001285402.1:c.*112A>T	NP_001272331.1:n.*112A>T
NM_014336.4:c.*112A>T	NP_055151.3:n.*112A>T
NM_001033054.3:c.*112A>T	NP_001028226.1:n.*112A>T
NM_001033055.3:c.*112A>T	NP_001028227.1:n.*112A>T
NM_001285399.3:c.*112A>T	NP_001272328.1:n.*112A>T
NM_001285400.3:c.*112A>T	NP_001272329.1:n.*112A>T
NM_001285401.3:c.*112A>T	NP_001272330.1:n.*112A>T
NM_001285402.2:c.*112A>T	NP_001272331.1:n.*112A>T
NM_001285403.3:c.*1238A>T	NP_001272332.1:n.*1238A>T
NM_014336.5:c.*112A>T MANE Select	NP_055151.3:n.*112A>T
NM_001285403.4:c.*1238A>T	NP_001272332.1:n.*1238A>T