Canonical Allele Identifier: CA10646487
Gene: AIPL1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.6425070C>A
GRCh37 chr17:g.6328390C>A
gnomAD v2:
17:6328390 C / A
gnomAD v3:
17:6425070 C / A
gnomAD v4:
chr17-6425070-C-A
Joint Max Group AF 0.00938588 (AFR)
Genomes Max Group AF 0.00933584 (AFR)
Exomes Max Group AF 0.00662292 (AFR)
ClinVar Allele:
339724
ClinVar RCV:
RCV000263799
RCV000316870
RCV000387721
ClinVar Variation:
324595
dbSNP:
182504714
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6425070C>A , CM000679.2:g.6425070C>A GRCh38
NC_000017.10:g.6328390C>A , CM000679.1:g.6328390C>A GRCh37
NC_000017.9:g.6269114C>A NCBI36
NG_008474.1:g.15130G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000381129.8:c.*390G>T MANE Select ENSP00000370521.3:n.*390G>T
ENST00000250087.9:c.*390G>T ENSP00000250087.5:n.*390G>T
ENST00000381128.2:c.*1417G>T ENSP00000370520.2:n.*1417G>T
ENST00000381129.7:c.*390G>T ENSP00000370521.3:n.*390G>T
ENST00000570584.5:c.251+8849G>T
ENST00000574506.5:c.*390G>T ENSP00000458456.1:n.*390G>T
NM_001033054.2:c.*390G>T NP_001028226.1:n.*390G>T
NM_001033055.2:c.*390G>T NP_001028227.1:n.*390G>T
NM_001285399.2:c.*390G>T NP_001272328.1:n.*390G>T
NM_001285400.2:c.*390G>T NP_001272329.1:n.*390G>T
NM_001285401.2:c.*390G>T NP_001272330.1:n.*390G>T
NM_001285402.1:c.*390G>T NP_001272331.1:n.*390G>T
NM_014336.4:c.*390G>T NP_055151.3:n.*390G>T
NM_001033054.3:c.*390G>T NP_001028226.1:n.*390G>T
NM_001033055.3:c.*390G>T NP_001028227.1:n.*390G>T
NM_001285399.3:c.*390G>T NP_001272328.1:n.*390G>T
NM_001285400.3:c.*390G>T NP_001272329.1:n.*390G>T
NM_001285401.3:c.*390G>T NP_001272330.1:n.*390G>T
NM_001285402.2:c.*390G>T NP_001272331.1:n.*390G>T
NM_014336.5:c.*390G>T MANE Select NP_055151.3:n.*390G>T
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