Canonical Allele Identifier: CA397394461

Gene: AIPL1

Linked Data

• gnomAD v4: 17-6425617-T-C
• MyVariant Identifiers: chr17:g.6328937T>C (hg19) ; chr17:g.6425617T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425617T>C , CM000679.2:g.6425617T>C	GRCh38
NC_000017.10:g.6328937T>C , CM000679.1:g.6328937T>C	GRCh37
NC_000017.9:g.6269661T>C	NCBI36
NG_008474.1:g.14583A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.998A>G MANE Select	ENSP00000370521.3:p.Gln333Arg
ENST00000250087.9:c.809A>G	ENSP00000250087.5:p.Gln270Arg
ENST00000381128.2:c.*870A>G	ENSP00000370520.2:n.*870A>G
ENST00000381129.7:c.998A>G	ENSP00000370521.3:p.Gln333Arg
ENST00000570466.5:c.932A>G	ENSP00000461287.1:p.Gln311Arg
ENST00000570584.5:c.251+8302A>G
ENST00000574506.5:c.962A>G	ENSP00000458456.1:p.Gln321Arg
ENST00000575265.5:c.*969A>G	ENSP00000459673.1:n.*969A>G
ENST00000576307.5:c.818A>G	ENSP00000459522.1:p.Gln273Arg
ENST00000576776.5:c.926A>G	ENSP00000460827.1:p.Gln309Arg
ENST00000621374.4:c.*16A>G	ENSP00000481337.1:n.*16A>G
NM_001033054.2:c.809A>G	NP_001028226.1:p.Gln270Arg
NM_001033055.2:c.818A>G	NP_001028227.1:p.Gln273Arg
NM_001285399.2:c.962A>G	NP_001272328.1:p.Gln321Arg
NM_001285400.2:c.932A>G	NP_001272329.1:p.Gln311Arg
NM_001285401.2:c.926A>G	NP_001272330.1:p.Gln309Arg
NM_001285402.1:c.881A>G	NP_001272331.1:p.Gln294Arg
NM_014336.4:c.998A>G	NP_055151.3:p.Gln333Arg
NM_001033054.3:c.809A>G	NP_001028226.1:p.Gln270Arg
NM_001033055.3:c.818A>G	NP_001028227.1:p.Gln273Arg
NM_001285399.3:c.962A>G	NP_001272328.1:p.Gln321Arg
NM_001285400.3:c.932A>G	NP_001272329.1:p.Gln311Arg
NM_001285401.3:c.926A>G	NP_001272330.1:p.Gln309Arg
NM_001285402.2:c.881A>G	NP_001272331.1:p.Gln294Arg
NM_001285403.3:c.*969A>G	NP_001272332.1:n.*969A>G
NM_014336.5:c.998A>G MANE Select	NP_055151.3:p.Gln333Arg
NM_001285403.4:c.*969A>G	NP_001272332.1:n.*969A>G