Canonical Allele Identifier: CA10649833

Gene: AIPL1

Linked Data

• ClinVar Variation Id: 324591
• ClinVar RCV Id: RCV000292827 ; RCV000350129 ; RCV000399064
• dbSNP Id: rs62060993
• gnomAD v2: 17-6328027-C-T
• gnomAD v3: 17-6424707-C-T
• gnomAD v4: 17-6424707-C-T
• MyVariant Identifiers: chr17:g.6328027C>T (hg19) ; chr17:g.6424707C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6424707C>T , CM000679.2:g.6424707C>T	GRCh38
NC_000017.10:g.6328027C>T , CM000679.1:g.6328027C>T	GRCh37
NC_000017.9:g.6268751C>T	NCBI36
NG_008474.1:g.15493G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.*753G>A MANE Select	ENSP00000370521.3:n.*753G>A
ENST00000250087.9:c.*753G>A	ENSP00000250087.5:n.*753G>A
ENST00000381128.2:c.*1780G>A	ENSP00000370520.2:n.*1780G>A
ENST00000381129.7:c.*753G>A	ENSP00000370521.3:n.*753G>A
ENST00000570584.5:c.251+9212G>A
ENST00000574506.5:c.*753G>A	ENSP00000458456.1:n.*753G>A
NM_001033054.2:c.*753G>A	NP_001028226.1:n.*753G>A
NM_001033055.2:c.*753G>A	NP_001028227.1:n.*753G>A
NM_001285399.2:c.*753G>A	NP_001272328.1:n.*753G>A
NM_001285400.2:c.*753G>A	NP_001272329.1:n.*753G>A
NM_001285401.2:c.*753G>A	NP_001272330.1:n.*753G>A
NM_001285402.1:c.*753G>A	NP_001272331.1:n.*753G>A
NM_014336.4:c.*753G>A	NP_055151.3:n.*753G>A
NM_001033054.3:c.*753G>A	NP_001028226.1:n.*753G>A
NM_001033055.3:c.*753G>A	NP_001028227.1:n.*753G>A
NM_001285399.3:c.*753G>A	NP_001272328.1:n.*753G>A
NM_001285400.3:c.*753G>A	NP_001272329.1:n.*753G>A
NM_001285401.3:c.*753G>A	NP_001272330.1:n.*753G>A
NM_001285402.2:c.*753G>A	NP_001272331.1:n.*753G>A
NM_014336.5:c.*753G>A MANE Select	NP_055151.3:n.*753G>A