Canonical Allele Identifier: CA227899

Gene: AIPL1

Linked Data

• ClinVar Variation Id: 5565
• ClinVar RCV Id: RCV000005906 ; RCV000086235 ; RCV000365317 ; RCV000505017 ; RCV001074840 ; RCV002496274
• dbSNP Id: rs62637014
• ExAC: 17:6329101 C / T
• gnomAD v2: 17-6329101-C-T
• gnomAD v3: 17-6425781-C-T
• gnomAD v4: 17-6425781-C-T
• MyVariant Identifiers: chr17:g.6329101C>T (hg19) ; chr17:g.6425781C>T (hg38)
• PubMed: PMID:10615133 ; PMID:10873396 ; PMID:15249368 ; PMID:15347646 ; PMID:20301475 ; PMID:21474771 ; PMID:23891399 ; PMID:25596619 ; PMID:25799540 ; PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425781C>T , CM000679.2:g.6425781C>T	GRCh38
NC_000017.10:g.6329101C>T , CM000679.1:g.6329101C>T	GRCh37
NC_000017.9:g.6269825C>T	NCBI36
NG_008474.1:g.14419G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.834G>A MANE Select	ENSP00000370521.3:p.Trp278Ter
ENST00000250087.9:c.645G>A	ENSP00000250087.5:p.Trp215Ter
ENST00000381128.2:c.*706G>A	ENSP00000370520.2:n.*706G>A
ENST00000381129.7:c.834G>A	ENSP00000370521.3:p.Trp278Ter
ENST00000570466.5:c.768G>A	ENSP00000461287.1:p.Trp256Ter
ENST00000570584.5:c.251+8138G>A
ENST00000574506.5:c.798G>A	ENSP00000458456.1:p.Trp266Ter
ENST00000575265.5:c.*805G>A	ENSP00000459673.1:n.*805G>A
ENST00000576307.5:c.654G>A	ENSP00000459522.1:p.Trp218Ter
ENST00000576776.5:c.762G>A	ENSP00000460827.1:p.Trp254Ter
ENST00000621374.4:c.834G>A	ENSP00000481337.1:p.Trp278Ter
NM_001033054.2:c.645G>A	NP_001028226.1:p.Trp215Ter
NM_001033055.2:c.654G>A	NP_001028227.1:p.Trp218Ter
NM_001285399.2:c.798G>A	NP_001272328.1:p.Trp266Ter
NM_001285400.2:c.768G>A	NP_001272329.1:p.Trp256Ter
NM_001285401.2:c.762G>A	NP_001272330.1:p.Trp254Ter
NM_001285402.1:c.717G>A	NP_001272331.1:p.Trp239Ter
NM_014336.4:c.834G>A	NP_055151.3:p.Trp278Ter
NM_001033054.3:c.645G>A	NP_001028226.1:p.Trp215Ter
NM_001033055.3:c.654G>A	NP_001028227.1:p.Trp218Ter
NM_001285399.3:c.798G>A	NP_001272328.1:p.Trp266Ter
NM_001285400.3:c.768G>A	NP_001272329.1:p.Trp256Ter
NM_001285401.3:c.762G>A	NP_001272330.1:p.Trp254Ter
NM_001285402.2:c.717G>A	NP_001272331.1:p.Trp239Ter
NM_001285403.3:c.*805G>A	NP_001272332.1:n.*805G>A
NM_014336.5:c.834G>A MANE Select	NP_055151.3:p.Trp278Ter
NM_001285403.4:c.*805G>A	NP_001272332.1:n.*805G>A