Canonical Allele Identifier: CA8328313

Gene: AIPL1

Linked Data

• ClinVar Variation Id: 291000
• ClinVar RCV Id: RCV000285726 ; RCV001123201 ; RCV001123202 ; RCV002522041
• dbSNP Id: rs201875142
• ExAC: 17:6328845 C / A
• gnomAD v2: 17-6328845-C-A
• gnomAD v3: 17-6425525-C-A
• gnomAD v4: 17-6425525-C-A
• MyVariant Identifiers: chr17:g.6328845C>A (hg19) ; chr17:g.6425525C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425525C>A , CM000679.2:g.6425525C>A	GRCh38
NC_000017.10:g.6328845C>A , CM000679.1:g.6328845C>A	GRCh37
NC_000017.9:g.6269569C>A	NCBI36
NG_008474.1:g.14675G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.1090G>T MANE Select	ENSP00000370521.3:p.Ala364Ser
ENST00000250087.9:c.901G>T	ENSP00000250087.5:p.Ala301Ser
ENST00000381128.2:c.*962G>T	ENSP00000370520.2:n.*962G>T
ENST00000381129.7:c.1090G>T	ENSP00000370521.3:p.Ala364Ser
ENST00000570466.5:c.1024G>T	ENSP00000461287.1:p.Ala342Ser
ENST00000570584.5:c.251+8394G>T
ENST00000574506.5:c.1054G>T	ENSP00000458456.1:p.Ala352Ser
ENST00000575265.5:c.*1061G>T	ENSP00000459673.1:n.*1061G>T
ENST00000576307.5:c.910G>T	ENSP00000459522.1:p.Ala304Ser
ENST00000576776.5:c.1018G>T	ENSP00000460827.1:p.Ala340Ser
ENST00000621374.4:c.*108G>T	ENSP00000481337.1:n.*108G>T
NM_001033054.2:c.901G>T	NP_001028226.1:p.Ala301Ser
NM_001033055.2:c.910G>T	NP_001028227.1:p.Ala304Ser
NM_001285399.2:c.1054G>T	NP_001272328.1:p.Ala352Ser
NM_001285400.2:c.1024G>T	NP_001272329.1:p.Ala342Ser
NM_001285401.2:c.1018G>T	NP_001272330.1:p.Ala340Ser
NM_001285402.1:c.973G>T	NP_001272331.1:p.Ala325Ser
NM_014336.4:c.1090G>T	NP_055151.3:p.Ala364Ser
NM_001033054.3:c.901G>T	NP_001028226.1:p.Ala301Ser
NM_001033055.3:c.910G>T	NP_001028227.1:p.Ala304Ser
NM_001285399.3:c.1054G>T	NP_001272328.1:p.Ala352Ser
NM_001285400.3:c.1024G>T	NP_001272329.1:p.Ala342Ser
NM_001285401.3:c.1018G>T	NP_001272330.1:p.Ala340Ser
NM_001285402.2:c.973G>T	NP_001272331.1:p.Ala325Ser
NM_001285403.3:c.*1061G>T	NP_001272332.1:n.*1061G>T
NM_014336.5:c.1090G>T MANE Select	NP_055151.3:p.Ala364Ser
NM_001285403.4:c.*1061G>T	NP_001272332.1:n.*1061G>T