Canonical Allele Identifier: CA397394293

Gene: AIPL1

Linked Data

• gnomAD v4: 17-6425531-G-C
• MyVariant Identifiers: chr17:g.6328851G>C (hg19) ; chr17:g.6425531G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425531G>C , CM000679.2:g.6425531G>C	GRCh38
NC_000017.10:g.6328851G>C , CM000679.1:g.6328851G>C	GRCh37
NC_000017.9:g.6269575G>C	NCBI36
NG_008474.1:g.14669C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.1084C>G MANE Select	ENSP00000370521.3:p.Leu362Val
ENST00000250087.9:c.895C>G	ENSP00000250087.5:p.Leu299Val
ENST00000381128.2:c.*956C>G	ENSP00000370520.2:n.*956C>G
ENST00000381129.7:c.1084C>G	ENSP00000370521.3:p.Leu362Val
ENST00000570466.5:c.1018C>G	ENSP00000461287.1:p.Leu340Val
ENST00000570584.5:c.251+8388C>G
ENST00000574506.5:c.1048C>G	ENSP00000458456.1:p.Leu350Val
ENST00000575265.5:c.*1055C>G	ENSP00000459673.1:n.*1055C>G
ENST00000576307.5:c.904C>G	ENSP00000459522.1:p.Leu302Val
ENST00000576776.5:c.1012C>G	ENSP00000460827.1:p.Leu338Val
ENST00000621374.4:c.*102C>G	ENSP00000481337.1:n.*102C>G
NM_001033054.2:c.895C>G	NP_001028226.1:p.Leu299Val
NM_001033055.2:c.904C>G	NP_001028227.1:p.Leu302Val
NM_001285399.2:c.1048C>G	NP_001272328.1:p.Leu350Val
NM_001285400.2:c.1018C>G	NP_001272329.1:p.Leu340Val
NM_001285401.2:c.1012C>G	NP_001272330.1:p.Leu338Val
NM_001285402.1:c.967C>G	NP_001272331.1:p.Leu323Val
NM_014336.4:c.1084C>G	NP_055151.3:p.Leu362Val
NM_001033054.3:c.895C>G	NP_001028226.1:p.Leu299Val
NM_001033055.3:c.904C>G	NP_001028227.1:p.Leu302Val
NM_001285399.3:c.1048C>G	NP_001272328.1:p.Leu350Val
NM_001285400.3:c.1018C>G	NP_001272329.1:p.Leu340Val
NM_001285401.3:c.1012C>G	NP_001272330.1:p.Leu338Val
NM_001285402.2:c.967C>G	NP_001272331.1:p.Leu323Val
NM_001285403.3:c.*1055C>G	NP_001272332.1:n.*1055C>G
NM_014336.5:c.1084C>G MANE Select	NP_055151.3:p.Leu362Val
NM_001285403.4:c.*1055C>G	NP_001272332.1:n.*1055C>G