Canonical Allele Identifier: CA10650672

Gene: AIPL1

Linked Data

• ClinVar Variation Id: 324598
• ClinVar RCV Id: RCV000290656 ; RCV000340884 ; RCV000395852
• dbSNP Id: rs1317185
• gnomAD v2: 17-6328592-C-T
• gnomAD v3: 17-6425272-C-T
• gnomAD v4: 17-6425272-C-T
• MyVariant Identifiers: chr17:g.6328592C>T (hg19) ; chr17:g.6425272C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425272C>T , CM000679.2:g.6425272C>T	GRCh38
NC_000017.10:g.6328592C>T , CM000679.1:g.6328592C>T	GRCh37
NC_000017.9:g.6269316C>T	NCBI36
NG_008474.1:g.14928G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000381129.8:c.*188G>A MANE Select	ENSP00000370521.3:n.*188G>A
ENST00000250087.9:c.*188G>A	ENSP00000250087.5:n.*188G>A
ENST00000381128.2:c.*1215G>A	ENSP00000370520.2:n.*1215G>A
ENST00000381129.7:c.*188G>A	ENSP00000370521.3:n.*188G>A
ENST00000570584.5:c.251+8647G>A
ENST00000574506.5:c.*188G>A	ENSP00000458456.1:n.*188G>A
NM_001033054.2:c.*188G>A	NP_001028226.1:n.*188G>A
NM_001033055.2:c.*188G>A	NP_001028227.1:n.*188G>A
NM_001285399.2:c.*188G>A	NP_001272328.1:n.*188G>A
NM_001285400.2:c.*188G>A	NP_001272329.1:n.*188G>A
NM_001285401.2:c.*188G>A	NP_001272330.1:n.*188G>A
NM_001285402.1:c.*188G>A	NP_001272331.1:n.*188G>A
NM_014336.4:c.*188G>A	NP_055151.3:n.*188G>A
NM_001033054.3:c.*188G>A	NP_001028226.1:n.*188G>A
NM_001033055.3:c.*188G>A	NP_001028227.1:n.*188G>A
NM_001285399.3:c.*188G>A	NP_001272328.1:n.*188G>A
NM_001285400.3:c.*188G>A	NP_001272329.1:n.*188G>A
NM_001285401.3:c.*188G>A	NP_001272330.1:n.*188G>A
NM_001285402.2:c.*188G>A	NP_001272331.1:n.*188G>A
NM_014336.5:c.*188G>A MANE Select	NP_055151.3:n.*188G>A
NM_001285403.4:c.*1314G>A	NP_001272332.1:n.*1314G>A