Canonical Allele Identifier: CA8328687

Gene: AIPL1

Linked Data

• ClinVar Variation Id: 260388
• ClinVar RCV Id: RCV000251131 ; RCV000325640 ; RCV000296424 ; RCV000382676
• dbSNP Id: rs188246267
• ExAC: 17:6338441 G / T
• gnomAD v2: 17-6338441-G-T
• gnomAD v3: 17-6435121-G-T
• gnomAD v4: 17-6435121-G-T
• MyVariant Identifiers: chr17:g.6338441G>T (hg19) ; chr17:g.6435121G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6435121G>T , CM000679.2:g.6435121G>T	GRCh38
NC_000017.10:g.6338441G>T , CM000679.1:g.6338441G>T	GRCh37
NC_000017.9:g.6279165G>T	NCBI36
NG_008474.1:g.5079C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.-17C>A MANE Select	ENSP00000370521.3:n.-17C>A
ENST00000250087.9:c.-17C>A	ENSP00000250087.5:n.-17C>A
ENST00000381128.2:c.-17C>A	ENSP00000370520.2:n.-17C>A
ENST00000381129.7:c.-17C>A	ENSP00000370521.3:n.-17C>A
ENST00000570466.5:c.-17C>A	ENSP00000461287.1:n.-17C>A
ENST00000574506.5:c.-17C>A	ENSP00000458456.1:n.-17C>A
ENST00000575265.5:c.-17C>A	ENSP00000459673.1:n.-17C>A
ENST00000576307.5:c.-17C>A	ENSP00000459522.1:n.-17C>A
ENST00000576776.5:c.-17C>A	ENSP00000460827.1:n.-17C>A
NM_001033054.2:c.-17C>A	NP_001028226.1:n.-17C>A
NM_001033055.2:c.-17C>A	NP_001028227.1:n.-17C>A
NM_001285399.2:c.-17C>A	NP_001272328.1:n.-17C>A
NM_001285400.2:c.-17C>A	NP_001272329.1:n.-17C>A
NM_001285401.2:c.-17C>A	NP_001272330.1:n.-17C>A
NM_001285402.1:c.-192C>A	NP_001272331.1:n.-192C>A
NM_001285403.2:c.-17C>A	NP_001272332.1:n.-17C>A
NM_014336.4:c.-17C>A	NP_055151.3:n.-17C>A
NM_001033054.3:c.-17C>A	NP_001028226.1:n.-17C>A
NM_001033055.3:c.-17C>A	NP_001028227.1:n.-17C>A
NM_001285399.3:c.-17C>A	NP_001272328.1:n.-17C>A
NM_001285400.3:c.-17C>A	NP_001272329.1:n.-17C>A
NM_001285401.3:c.-17C>A	NP_001272330.1:n.-17C>A
NM_001285402.2:c.-192C>A	NP_001272331.1:n.-192C>A
NM_001285403.3:c.-17C>A	NP_001272332.1:n.-17C>A
NM_014336.5:c.-17C>A MANE Select	NP_055151.3:n.-17C>A
NM_001285403.4:c.-17C>A	NP_001272332.1:n.-17C>A