Canonical Allele Identifier: CA10640222

Gene: AIPL1

Linked Data

• ClinVar Variation Id: 324573
• ClinVar RCV Id: RCV000267649 ; RCV000301797 ; RCV000358912
• dbSNP Id: rs886053256
• gnomAD v4: 17-6424001-C-A
• MyVariant Identifiers: chr17:g.6327321C>A (hg19) ; chr17:g.6424001C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6424001C>A , CM000679.2:g.6424001C>A	GRCh38
NC_000017.10:g.6327321C>A , CM000679.1:g.6327321C>A	GRCh37
NC_000017.9:g.6268045C>A	NCBI36
NG_008474.1:g.16199G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.*1459G>T MANE Select	ENSP00000370521.3:n.*1459G>T
ENST00000250087.9:c.*1459G>T	ENSP00000250087.5:n.*1459G>T
ENST00000381128.2:c.*2486G>T	ENSP00000370520.2:n.*2486G>T
ENST00000381129.7:c.*1459G>T	ENSP00000370521.3:n.*1459G>T
ENST00000570584.5:c.251+9918G>T
NM_001033054.2:c.*1459G>T	NP_001028226.1:n.*1459G>T
NM_001033055.2:c.*1459G>T	NP_001028227.1:n.*1459G>T
NM_001285399.2:c.*1459G>T	NP_001272328.1:n.*1459G>T
NM_001285400.2:c.*1459G>T	NP_001272329.1:n.*1459G>T
NM_001285401.2:c.*1459G>T	NP_001272330.1:n.*1459G>T
NM_001285402.1:c.*1459G>T	NP_001272331.1:n.*1459G>T
NM_014336.4:c.*1459G>T	NP_055151.3:n.*1459G>T
NM_001033054.3:c.*1459G>T	NP_001028226.1:n.*1459G>T
NM_001033055.3:c.*1459G>T	NP_001028227.1:n.*1459G>T
NM_001285399.3:c.*1459G>T	NP_001272328.1:n.*1459G>T
NM_001285400.3:c.*1459G>T	NP_001272329.1:n.*1459G>T
NM_001285401.3:c.*1459G>T	NP_001272330.1:n.*1459G>T
NM_001285402.2:c.*1459G>T	NP_001272331.1:n.*1459G>T
NM_014336.5:c.*1459G>T MANE Select	NP_055151.3:n.*1459G>T