Canonical Allele Identifier: CA7929443
Gene: ARL6IP1 HGNC NCBI
ClinVar RCV:
RCV000559289
RCV002279360
ClinVar Variation:
474863
dbSNP:
200377377
gnomAD v2:
16:18805924 T / G
gnomAD v3:
16:18794602 T / G
gnomAD v4:
chr16-18794602-T-G
Joint Max Group AF 0.0007089 (AMR)
Genomes Max Group AF 0.00130116 (AMR)
Exomes Max Group AF 0.0004072 (AMR)
MyVariant.info:
GRCh38 chr16:g.18794602T>G
GRCh37 chr16:g.18805924T>G
Revel Score:
ENST00000304414 (MANE Select) 0.084
ENST00000545430 0.084
ENST00000546206 0.084
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.18794602T>G , CM000678.2:g.18794602T>G GRCh38
NC_000016.9:g.18805924T>G , CM000678.1:g.18805924T>G GRCh37
NC_000016.8:g.18713425T>G NCBI36
NG_042860.1:g.12077A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000304414.12:c.490A>C MANE Select ENSP00000306788.7:p.Ile164Leu
ENST00000304414.11:c.490A>C ENSP00000306788.7:p.Ile164Leu
ENST00000546206.6:c.403A>C ENSP00000440048.2:p.Ile135Leu
ENST00000562819.5:c.149-1232A>C ENSP00000457372.1:n.149-1232A>C
ENST00000563861.5:c.*72A>C ENSP00000456596.1:n.*72A>C
ENST00000567078.2:c.490A>C ENSP00000454746.2:p.Ile164Leu
NM_001313858.1:c.403A>C NP_001300787.1:p.Ile135Leu
NM_015161.1:c.490A>C NP_055976.1:p.Ile164Leu
NM_015161.2:c.490A>C NP_055976.1:p.Ile164Leu
NM_015161.3:c.490A>C MANE Select NP_055976.1:p.Ile164Leu
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