Canonical Allele Identifier: CA497687257

Gene: AIPL1

Linked Data

• gnomAD v4: 17-6425461-C-T
• MyVariant Identifiers: chr17:g.6328781C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425461C>T , CM000679.2:g.6425461C>T	GRCh38
NC_000017.10:g.6328781C>T , CM000679.1:g.6328781C>T	GRCh37
NC_000017.9:g.6269505C>T	NCBI36
NG_008474.1:g.14739G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000381129.8:c.1154G>A MANE Select	ENSP00000370521.3:p.Ter385=
ENST00000250087.9:c.965G>A	ENSP00000250087.5:p.Ter322=
ENST00000381128.2:c.*1026G>A	ENSP00000370520.2:n.*1026G>A
ENST00000381129.7:c.1154G>A	ENSP00000370521.3:p.Ter385=
ENST00000570466.5:c.1088G>A	ENSP00000461287.1:p.Ter363=
ENST00000570584.5:c.251+8458G>A
ENST00000574506.5:c.1118G>A	ENSP00000458456.1:p.Ter373=
ENST00000575265.5:c.*1125G>A	ENSP00000459673.1:n.*1125G>A
ENST00000576307.5:c.974G>A	ENSP00000459522.1:p.Ter325=
ENST00000576776.5:c.1082G>A	ENSP00000460827.1:p.Ter361=
ENST00000621374.4:c.*172G>A	ENSP00000481337.1:n.*172G>A
NM_001033054.2:c.965G>A	NP_001028226.1:p.Ter322=
NM_001033055.2:c.974G>A	NP_001028227.1:p.Ter325=
NM_001285399.2:c.1118G>A	NP_001272328.1:p.Ter373=
NM_001285400.2:c.1088G>A	NP_001272329.1:p.Ter363=
NM_001285401.2:c.1082G>A	NP_001272330.1:p.Ter361=
NM_001285402.1:c.1037G>A	NP_001272331.1:p.Ter346=
NM_014336.4:c.1154G>A	NP_055151.3:p.Ter385=
NM_001033054.3:c.965G>A	NP_001028226.1:p.Ter322=
NM_001033055.3:c.974G>A	NP_001028227.1:p.Ter325=
NM_001285399.3:c.1118G>A	NP_001272328.1:p.Ter373=
NM_001285400.3:c.1088G>A	NP_001272329.1:p.Ter363=
NM_001285401.3:c.1082G>A	NP_001272330.1:p.Ter361=
NM_001285402.2:c.1037G>A	NP_001272331.1:p.Ter346=
NM_001285403.3:c.*1125G>A	NP_001272332.1:n.*1125G>A
NM_014336.5:c.1154G>A MANE Select	NP_055151.3:p.Ter385=
NM_001285403.4:c.*1125G>A	NP_001272332.1:n.*1125G>A