Canonical Allele Identifier: CA8328343

Gene: AIPL1

Linked Data

• dbSNP Id: rs537788083
• ExAC: 17:6328970 C / T
• gnomAD v2: 17-6328970-C-T
• gnomAD v3: 17-6425650-C-T
• gnomAD v4: 17-6425650-C-T
• COSMIC: COSM983010
• MyVariant Identifiers: chr17:g.6328970C>T (hg19) ; chr17:g.6425650C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425650C>T , CM000679.2:g.6425650C>T	GRCh38
NC_000017.10:g.6328970C>T , CM000679.1:g.6328970C>T	GRCh37
NC_000017.9:g.6269694C>T	NCBI36
NG_008474.1:g.14550G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.965G>A MANE Select	ENSP00000370521.3:p.Arg322His
ENST00000250087.9:c.776G>A	ENSP00000250087.5:p.Arg259His
ENST00000381128.2:c.*837G>A	ENSP00000370520.2:n.*837G>A
ENST00000381129.7:c.965G>A	ENSP00000370521.3:p.Arg322His
ENST00000570466.5:c.899G>A	ENSP00000461287.1:p.Arg300His
ENST00000570584.5:c.251+8269G>A
ENST00000574506.5:c.929G>A	ENSP00000458456.1:p.Arg310His
ENST00000575265.5:c.*936G>A	ENSP00000459673.1:n.*936G>A
ENST00000576307.5:c.785G>A	ENSP00000459522.1:p.Arg262His
ENST00000576776.5:c.893G>A	ENSP00000460827.1:p.Arg298His
ENST00000621374.4:c.964G>A	ENSP00000481337.1:p.Ala322Thr
NM_001033054.2:c.776G>A	NP_001028226.1:p.Arg259His
NM_001033055.2:c.785G>A	NP_001028227.1:p.Arg262His
NM_001285399.2:c.929G>A	NP_001272328.1:p.Arg310His
NM_001285400.2:c.899G>A	NP_001272329.1:p.Arg300His
NM_001285401.2:c.893G>A	NP_001272330.1:p.Arg298His
NM_001285402.1:c.848G>A	NP_001272331.1:p.Arg283His
NM_014336.4:c.965G>A	NP_055151.3:p.Arg322His
NM_001033054.3:c.776G>A	NP_001028226.1:p.Arg259His
NM_001033055.3:c.785G>A	NP_001028227.1:p.Arg262His
NM_001285399.3:c.929G>A	NP_001272328.1:p.Arg310His
NM_001285400.3:c.899G>A	NP_001272329.1:p.Arg300His
NM_001285401.3:c.893G>A	NP_001272330.1:p.Arg298His
NM_001285402.2:c.848G>A	NP_001272331.1:p.Arg283His
NM_001285403.3:c.*936G>A	NP_001272332.1:n.*936G>A
NM_014336.5:c.965G>A MANE Select	NP_055151.3:p.Arg322His
NM_001285403.4:c.*936G>A	NP_001272332.1:n.*936G>A