Canonical Allele Identifier: CA8328297

Gene: AIPL1

Linked Data

• dbSNP Id: rs765513188
• ExAC: 17:6328765 T / C
• gnomAD v2: 17-6328765-T-C
• gnomAD v4: 17-6425445-T-C
• MyVariant Identifiers: chr17:g.6328765T>C (hg19) ; chr17:g.6425445T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425445T>C , CM000679.2:g.6425445T>C	GRCh38
NC_000017.10:g.6328765T>C , CM000679.1:g.6328765T>C	GRCh37
NC_000017.9:g.6269489T>C	NCBI36
NG_008474.1:g.14755A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000381129.8:c.*15A>G MANE Select	ENSP00000370521.3:n.*15A>G
ENST00000250087.9:c.*15A>G	ENSP00000250087.5:n.*15A>G
ENST00000381128.2:c.*1042A>G	ENSP00000370520.2:n.*1042A>G
ENST00000381129.7:c.*15A>G	ENSP00000370521.3:n.*15A>G
ENST00000570466.5:c.*15A>G	ENSP00000461287.1:n.*15A>G
ENST00000570584.5:c.251+8474A>G
ENST00000574506.5:c.*15A>G	ENSP00000458456.1:n.*15A>G
ENST00000575265.5:c.*1141A>G	ENSP00000459673.1:n.*1141A>G
ENST00000576307.5:c.*15A>G	ENSP00000459522.1:n.*15A>G
ENST00000576776.5:c.*15A>G	ENSP00000460827.1:n.*15A>G
ENST00000621374.4:c.*188A>G	ENSP00000481337.1:n.*188A>G
NM_001033054.2:c.*15A>G	NP_001028226.1:n.*15A>G
NM_001033055.2:c.*15A>G	NP_001028227.1:n.*15A>G
NM_001285399.2:c.*15A>G	NP_001272328.1:n.*15A>G
NM_001285400.2:c.*15A>G	NP_001272329.1:n.*15A>G
NM_001285401.2:c.*15A>G	NP_001272330.1:n.*15A>G
NM_001285402.1:c.*15A>G	NP_001272331.1:n.*15A>G
NM_014336.4:c.*15A>G	NP_055151.3:n.*15A>G
NM_001033054.3:c.*15A>G	NP_001028226.1:n.*15A>G
NM_001033055.3:c.*15A>G	NP_001028227.1:n.*15A>G
NM_001285399.3:c.*15A>G	NP_001272328.1:n.*15A>G
NM_001285400.3:c.*15A>G	NP_001272329.1:n.*15A>G
NM_001285401.3:c.*15A>G	NP_001272330.1:n.*15A>G
NM_001285402.2:c.*15A>G	NP_001272331.1:n.*15A>G
NM_001285403.3:c.*1141A>G	NP_001272332.1:n.*1141A>G
NM_014336.5:c.*15A>G MANE Select	NP_055151.3:n.*15A>G
NM_001285403.4:c.*1141A>G	NP_001272332.1:n.*1141A>G