Canonical Allele Identifier: CA10640244

Gene: AIPL1

Linked Data

• ClinVar Variation Id: 324597
• ClinVar RCV Id: RCV000289957 ; RCV000347294 ; RCV000380964
• dbSNP Id: rs112307858
• gnomAD v2: 17-6328559-C-T
• gnomAD v3: 17-6425239-C-T
• gnomAD v4: 17-6425239-C-T
• MyVariant Identifiers: chr17:g.6328559C>T (hg19) ; chr17:g.6425239C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425239C>T , CM000679.2:g.6425239C>T	GRCh38
NC_000017.10:g.6328559C>T , CM000679.1:g.6328559C>T	GRCh37
NC_000017.9:g.6269283C>T	NCBI36
NG_008474.1:g.14961G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.*221G>A MANE Select	ENSP00000370521.3:n.*221G>A
ENST00000250087.9:c.*221G>A	ENSP00000250087.5:n.*221G>A
ENST00000381128.2:c.*1248G>A	ENSP00000370520.2:n.*1248G>A
ENST00000381129.7:c.*221G>A	ENSP00000370521.3:n.*221G>A
ENST00000570584.5:c.251+8680G>A
ENST00000574506.5:c.*221G>A	ENSP00000458456.1:n.*221G>A
NM_001033054.2:c.*221G>A	NP_001028226.1:n.*221G>A
NM_001033055.2:c.*221G>A	NP_001028227.1:n.*221G>A
NM_001285399.2:c.*221G>A	NP_001272328.1:n.*221G>A
NM_001285400.2:c.*221G>A	NP_001272329.1:n.*221G>A
NM_001285401.2:c.*221G>A	NP_001272330.1:n.*221G>A
NM_001285402.1:c.*221G>A	NP_001272331.1:n.*221G>A
NM_014336.4:c.*221G>A	NP_055151.3:n.*221G>A
NM_001033054.3:c.*221G>A	NP_001028226.1:n.*221G>A
NM_001033055.3:c.*221G>A	NP_001028227.1:n.*221G>A
NM_001285399.3:c.*221G>A	NP_001272328.1:n.*221G>A
NM_001285400.3:c.*221G>A	NP_001272329.1:n.*221G>A
NM_001285401.3:c.*221G>A	NP_001272330.1:n.*221G>A
NM_001285402.2:c.*221G>A	NP_001272331.1:n.*221G>A
NM_014336.5:c.*221G>A MANE Select	NP_055151.3:n.*221G>A