Canonical Allele Identifier: CA227901

Gene: AIPL1

Linked Data

• ClinVar Variation Id: 99808
• ClinVar RCV Id: RCV000086237 ; RCV000303893 ; RCV000360989 ; RCV001080115 ; RCV001699204
• dbSNP Id: rs140124986
• ExAC: 17:6337427 C / T
• gnomAD v2: 17-6337427-C-T
• gnomAD v3: 17-6434107-C-T
• gnomAD v4: 17-6434107-C-T
• MyVariant Identifiers: chr17:g.6337427C>T (hg19) ; chr17:g.6434107C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6434107C>T , CM000679.2:g.6434107C>T	GRCh38
NC_000017.10:g.6337427C>T , CM000679.1:g.6337427C>T	GRCh37
NC_000017.9:g.6278151C>T	NCBI36
NG_008474.1:g.6093G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.97-9G>A MANE Select	ENSP00000370521.3:n.97-9G>A
ENST00000250087.9:c.97-9G>A	ENSP00000250087.5:n.97-9G>A
ENST00000381128.2:c.155-9G>A	ENSP00000370520.2:n.155-9G>A
ENST00000381129.7:c.97-9G>A	ENSP00000370521.3:n.97-9G>A
ENST00000570466.5:c.97-75G>A	ENSP00000461287.1:n.97-75G>A
ENST00000570584.5:c.72-9G>A
ENST00000571740.5:c.97-9G>A	ENSP00000460134.1:n.97-9G>A
ENST00000574506.5:c.97-45G>A	ENSP00000458456.1:n.97-45G>A
ENST00000574913.1:c.97-9G>A	ENSP00000460672.1:n.97-9G>A
ENST00000575265.5:c.97-9G>A	ENSP00000459673.1:n.97-9G>A
ENST00000576307.5:c.96+902G>A	ENSP00000459522.1:n.96+902G>A
ENST00000576776.5:c.97-9G>A	ENSP00000460827.1:n.97-9G>A
ENST00000621374.4:c.97-9G>A	ENSP00000481337.1:n.97-9G>A
NM_001033054.2:c.97-9G>A	NP_001028226.1:n.97-9G>A
NM_001033055.2:c.96+902G>A	NP_001028227.1:n.96+902G>A
NM_001285399.2:c.97-45G>A	NP_001272328.1:n.97-45G>A
NM_001285400.2:c.97-75G>A	NP_001272329.1:n.97-75G>A
NM_001285401.2:c.97-9G>A	NP_001272330.1:n.97-9G>A
NM_001285402.1:c.-21-9G>A	NP_001272331.1:n.-21-9G>A
NM_001285403.2:c.97-9G>A	NP_001272332.1:n.97-9G>A
NM_014336.4:c.97-9G>A	NP_055151.3:n.97-9G>A
NM_001033054.3:c.97-9G>A	NP_001028226.1:n.97-9G>A
NM_001033055.3:c.96+902G>A	NP_001028227.1:n.96+902G>A
NM_001285399.3:c.97-45G>A	NP_001272328.1:n.97-45G>A
NM_001285400.3:c.97-75G>A	NP_001272329.1:n.97-75G>A
NM_001285401.3:c.97-9G>A	NP_001272330.1:n.97-9G>A
NM_001285402.2:c.-21-9G>A	NP_001272331.1:n.-21-9G>A
NM_001285403.3:c.97-9G>A	NP_001272332.1:n.97-9G>A
NM_014336.5:c.97-9G>A MANE Select	NP_055151.3:n.97-9G>A
NM_001285403.4:c.97-9G>A	NP_001272332.1:n.97-9G>A