Canonical Allele Identifier: CA8328318

Gene: AIPL1

Linked Data

• dbSNP Id: rs763298873
• ExAC: 17:6328866 C / T
• gnomAD v2: 17-6328866-C-T
• gnomAD v4: 17-6425546-C-T
• MyVariant Identifiers: chr17:g.6328866C>T (hg19) ; chr17:g.6425546C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425546C>T , CM000679.2:g.6425546C>T	GRCh38
NC_000017.10:g.6328866C>T , CM000679.1:g.6328866C>T	GRCh37
NC_000017.9:g.6269590C>T	NCBI36
NG_008474.1:g.14654G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.1069G>A MANE Select	ENSP00000370521.3:p.Ala357Thr
ENST00000250087.9:c.880G>A	ENSP00000250087.5:p.Ala294Thr
ENST00000381128.2:c.*941G>A	ENSP00000370520.2:n.*941G>A
ENST00000381129.7:c.1069G>A	ENSP00000370521.3:p.Ala357Thr
ENST00000570466.5:c.1003G>A	ENSP00000461287.1:p.Ala335Thr
ENST00000570584.5:c.251+8373G>A
ENST00000574506.5:c.1033G>A	ENSP00000458456.1:p.Ala345Thr
ENST00000575265.5:c.*1040G>A	ENSP00000459673.1:n.*1040G>A
ENST00000576307.5:c.889G>A	ENSP00000459522.1:p.Ala297Thr
ENST00000576776.5:c.997G>A	ENSP00000460827.1:p.Ala333Thr
ENST00000621374.4:c.*87G>A	ENSP00000481337.1:n.*87G>A
NM_001033054.2:c.880G>A	NP_001028226.1:p.Ala294Thr
NM_001033055.2:c.889G>A	NP_001028227.1:p.Ala297Thr
NM_001285399.2:c.1033G>A	NP_001272328.1:p.Ala345Thr
NM_001285400.2:c.1003G>A	NP_001272329.1:p.Ala335Thr
NM_001285401.2:c.997G>A	NP_001272330.1:p.Ala333Thr
NM_001285402.1:c.952G>A	NP_001272331.1:p.Ala318Thr
NM_014336.4:c.1069G>A	NP_055151.3:p.Ala357Thr
NM_001033054.3:c.880G>A	NP_001028226.1:p.Ala294Thr
NM_001033055.3:c.889G>A	NP_001028227.1:p.Ala297Thr
NM_001285399.3:c.1033G>A	NP_001272328.1:p.Ala345Thr
NM_001285400.3:c.1003G>A	NP_001272329.1:p.Ala335Thr
NM_001285401.3:c.997G>A	NP_001272330.1:p.Ala333Thr
NM_001285402.2:c.952G>A	NP_001272331.1:p.Ala318Thr
NM_001285403.3:c.*1040G>A	NP_001272332.1:n.*1040G>A
NM_014336.5:c.1069G>A MANE Select	NP_055151.3:p.Ala357Thr
NM_001285403.4:c.*1040G>A	NP_001272332.1:n.*1040G>A