Canonical Allele Identifier: CA397394328

Gene: AIPL1

Linked Data

• gnomAD v4: 17-6425549-T-C
• MyVariant Identifiers: chr17:g.6328869T>C (hg19) ; chr17:g.6425549T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425549T>C , CM000679.2:g.6425549T>C	GRCh38
NC_000017.10:g.6328869T>C , CM000679.1:g.6328869T>C	GRCh37
NC_000017.9:g.6269593T>C	NCBI36
NG_008474.1:g.14651A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.1066A>G MANE Select	ENSP00000370521.3:p.Thr356Ala
ENST00000250087.9:c.877A>G	ENSP00000250087.5:p.Thr293Ala
ENST00000381128.2:c.*938A>G	ENSP00000370520.2:n.*938A>G
ENST00000381129.7:c.1066A>G	ENSP00000370521.3:p.Thr356Ala
ENST00000570466.5:c.1000A>G	ENSP00000461287.1:p.Thr334Ala
ENST00000570584.5:c.251+8370A>G
ENST00000574506.5:c.1030A>G	ENSP00000458456.1:p.Thr344Ala
ENST00000575265.5:c.*1037A>G	ENSP00000459673.1:n.*1037A>G
ENST00000576307.5:c.886A>G	ENSP00000459522.1:p.Thr296Ala
ENST00000576776.5:c.994A>G	ENSP00000460827.1:p.Thr332Ala
ENST00000621374.4:c.*84A>G	ENSP00000481337.1:n.*84A>G
NM_001033054.2:c.877A>G	NP_001028226.1:p.Thr293Ala
NM_001033055.2:c.886A>G	NP_001028227.1:p.Thr296Ala
NM_001285399.2:c.1030A>G	NP_001272328.1:p.Thr344Ala
NM_001285400.2:c.1000A>G	NP_001272329.1:p.Thr334Ala
NM_001285401.2:c.994A>G	NP_001272330.1:p.Thr332Ala
NM_001285402.1:c.949A>G	NP_001272331.1:p.Thr317Ala
NM_014336.4:c.1066A>G	NP_055151.3:p.Thr356Ala
NM_001033054.3:c.877A>G	NP_001028226.1:p.Thr293Ala
NM_001033055.3:c.886A>G	NP_001028227.1:p.Thr296Ala
NM_001285399.3:c.1030A>G	NP_001272328.1:p.Thr344Ala
NM_001285400.3:c.1000A>G	NP_001272329.1:p.Thr334Ala
NM_001285401.3:c.994A>G	NP_001272330.1:p.Thr332Ala
NM_001285402.2:c.949A>G	NP_001272331.1:p.Thr317Ala
NM_001285403.3:c.*1037A>G	NP_001272332.1:n.*1037A>G
NM_014336.5:c.1066A>G MANE Select	NP_055151.3:p.Thr356Ala
NM_001285403.4:c.*1037A>G	NP_001272332.1:n.*1037A>G