Canonical Allele Identifier: CA227884

Gene: AIPL1

Linked Data

• ClinVar Variation Id: 99804
• ClinVar RCV Id: RCV000086227 ; RCV003505096
• dbSNP Id: rs62637009
• gnomAD v4: 17-6427036-G-A
• MyVariant Identifiers: chr17:g.6330356G>A (hg19) ; chr17:g.6427036G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6427036G>A , CM000679.2:g.6427036G>A	GRCh38
NC_000017.10:g.6330356G>A , CM000679.1:g.6330356G>A	GRCh37
NC_000017.9:g.6271080G>A	NCBI36
NG_008474.1:g.13164C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.487C>T MANE Select	ENSP00000370521.3:p.Gln163Ter
ENST00000250087.9:c.298C>T	ENSP00000250087.5:p.Gln100Ter
ENST00000381128.2:c.*359C>T	ENSP00000370520.2:n.*359C>T
ENST00000381129.7:c.487C>T	ENSP00000370521.3:p.Gln163Ter
ENST00000570466.5:c.421C>T	ENSP00000461287.1:p.Gln141Ter
ENST00000570584.5:c.251+6883C>T
ENST00000571740.5:c.466-3C>T	ENSP00000460134.1:n.466-3C>T
ENST00000574506.5:c.451C>T	ENSP00000458456.1:p.Gln151Ter
ENST00000574913.1:c.499C>T	ENSP00000460672.1:p.Gln167Ter
ENST00000575265.5:c.487C>T	ENSP00000459673.1:p.Gln163Ter
ENST00000576307.5:c.307C>T	ENSP00000459522.1:p.Gln103Ter
ENST00000576776.5:c.487C>T	ENSP00000460827.1:p.Gln163Ter
ENST00000621374.4:c.487C>T	ENSP00000481337.1:p.Gln163Ter
NM_001033054.2:c.298C>T	NP_001028226.1:p.Gln100Ter
NM_001033055.2:c.307C>T	NP_001028227.1:p.Gln103Ter
NM_001285399.2:c.451C>T	NP_001272328.1:p.Gln151Ter
NM_001285400.2:c.421C>T	NP_001272329.1:p.Gln141Ter
NM_001285401.2:c.487C>T	NP_001272330.1:p.Gln163Ter
NM_001285402.1:c.370C>T	NP_001272331.1:p.Gln124Ter
NM_001285403.2:c.466-3C>T	NP_001272332.1:n.466-3C>T
NM_014336.4:c.487C>T	NP_055151.3:p.Gln163Ter
NM_001033054.3:c.298C>T	NP_001028226.1:p.Gln100Ter
NM_001033055.3:c.307C>T	NP_001028227.1:p.Gln103Ter
NM_001285399.3:c.451C>T	NP_001272328.1:p.Gln151Ter
NM_001285400.3:c.421C>T	NP_001272329.1:p.Gln141Ter
NM_001285401.3:c.487C>T	NP_001272330.1:p.Gln163Ter
NM_001285402.2:c.370C>T	NP_001272331.1:p.Gln124Ter
NM_001285403.3:c.466-3C>T	NP_001272332.1:n.466-3C>T
NM_014336.5:c.487C>T MANE Select	NP_055151.3:p.Gln163Ter
NM_001285403.4:c.466-3C>T	NP_001272332.1:n.466-3C>T