Canonical Allele Identifier: CA10649826

Gene: AIPL1

Linked Data

• ClinVar Variation Id: 324583
• ClinVar RCV Id: RCV000283429 ; RCV000323291 ; RCV000380213
• dbSNP Id: rs149460055
• gnomAD v2: 17-6327602-G-A
• gnomAD v3: 17-6424282-G-A
• gnomAD v4: 17-6424282-G-A
• MyVariant Identifiers: chr17:g.6327602G>A (hg19) ; chr17:g.6424282G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6424282G>A , CM000679.2:g.6424282G>A	GRCh38
NC_000017.10:g.6327602G>A , CM000679.1:g.6327602G>A	GRCh37
NC_000017.9:g.6268326G>A	NCBI36
NG_008474.1:g.15918C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.*1178C>T MANE Select	ENSP00000370521.3:n.*1178C>T
ENST00000250087.9:c.*1178C>T	ENSP00000250087.5:n.*1178C>T
ENST00000381128.2:c.*2205C>T	ENSP00000370520.2:n.*2205C>T
ENST00000381129.7:c.*1178C>T	ENSP00000370521.3:n.*1178C>T
ENST00000570584.5:c.251+9637C>T
NM_001033054.2:c.*1178C>T	NP_001028226.1:n.*1178C>T
NM_001033055.2:c.*1178C>T	NP_001028227.1:n.*1178C>T
NM_001285399.2:c.*1178C>T	NP_001272328.1:n.*1178C>T
NM_001285400.2:c.*1178C>T	NP_001272329.1:n.*1178C>T
NM_001285401.2:c.*1178C>T	NP_001272330.1:n.*1178C>T
NM_001285402.1:c.*1178C>T	NP_001272331.1:n.*1178C>T
NM_014336.4:c.*1178C>T	NP_055151.3:n.*1178C>T
NM_001033054.3:c.*1178C>T	NP_001028226.1:n.*1178C>T
NM_001033055.3:c.*1178C>T	NP_001028227.1:n.*1178C>T
NM_001285399.3:c.*1178C>T	NP_001272328.1:n.*1178C>T
NM_001285400.3:c.*1178C>T	NP_001272329.1:n.*1178C>T
NM_001285401.3:c.*1178C>T	NP_001272330.1:n.*1178C>T
NM_001285402.2:c.*1178C>T	NP_001272331.1:n.*1178C>T
NM_014336.5:c.*1178C>T MANE Select	NP_055151.3:n.*1178C>T