Canonical Allele Identifier: CA397394344

Gene: AIPL1

Linked Data

• ClinVar Variation Id: 1349357
• ClinVar RCV Id: RCV002046905 ; RCV002545375
• dbSNP Id: rs1452332999
• gnomAD v3: 17-6425557-T-C
• gnomAD v4: 17-6425557-T-C
• MyVariant Identifiers: chr17:g.6328877T>C (hg19) ; chr17:g.6425557T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425557T>C , CM000679.2:g.6425557T>C	GRCh38
NC_000017.10:g.6328877T>C , CM000679.1:g.6328877T>C	GRCh37
NC_000017.9:g.6269601T>C	NCBI36
NG_008474.1:g.14643A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.1058A>G MANE Select	ENSP00000370521.3:p.Glu353Gly
ENST00000250087.9:c.869A>G	ENSP00000250087.5:p.Glu290Gly
ENST00000381128.2:c.*930A>G	ENSP00000370520.2:n.*930A>G
ENST00000381129.7:c.1058A>G	ENSP00000370521.3:p.Glu353Gly
ENST00000570466.5:c.992A>G	ENSP00000461287.1:p.Glu331Gly
ENST00000570584.5:c.251+8362A>G
ENST00000574506.5:c.1022A>G	ENSP00000458456.1:p.Glu341Gly
ENST00000575265.5:c.*1029A>G	ENSP00000459673.1:n.*1029A>G
ENST00000576307.5:c.878A>G	ENSP00000459522.1:p.Glu293Gly
ENST00000576776.5:c.986A>G	ENSP00000460827.1:p.Glu329Gly
ENST00000621374.4:c.*76A>G	ENSP00000481337.1:n.*76A>G
NM_001033054.2:c.869A>G	NP_001028226.1:p.Glu290Gly
NM_001033055.2:c.878A>G	NP_001028227.1:p.Glu293Gly
NM_001285399.2:c.1022A>G	NP_001272328.1:p.Glu341Gly
NM_001285400.2:c.992A>G	NP_001272329.1:p.Glu331Gly
NM_001285401.2:c.986A>G	NP_001272330.1:p.Glu329Gly
NM_001285402.1:c.941A>G	NP_001272331.1:p.Glu314Gly
NM_014336.4:c.1058A>G	NP_055151.3:p.Glu353Gly
NM_001033054.3:c.869A>G	NP_001028226.1:p.Glu290Gly
NM_001033055.3:c.878A>G	NP_001028227.1:p.Glu293Gly
NM_001285399.3:c.1022A>G	NP_001272328.1:p.Glu341Gly
NM_001285400.3:c.992A>G	NP_001272329.1:p.Glu331Gly
NM_001285401.3:c.986A>G	NP_001272330.1:p.Glu329Gly
NM_001285402.2:c.941A>G	NP_001272331.1:p.Glu314Gly
NM_001285403.3:c.*1029A>G	NP_001272332.1:n.*1029A>G
NM_014336.5:c.1058A>G MANE Select	NP_055151.3:p.Glu353Gly
NM_001285403.4:c.*1029A>G	NP_001272332.1:n.*1029A>G