Canonical Allele Identifier: CA397394311

Gene: AIPL1

Linked Data

• MyVariant Identifiers: chr17:g.6328860A>C (hg19) ; chr17:g.6425540A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425540A>C , CM000679.2:g.6425540A>C	GRCh38
NC_000017.10:g.6328860A>C , CM000679.1:g.6328860A>C	GRCh37
NC_000017.9:g.6269584A>C	NCBI36
NG_008474.1:g.14660T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.1075T>G MANE Select	ENSP00000370521.3:p.Ser359Ala
ENST00000250087.9:c.886T>G	ENSP00000250087.5:p.Ser296Ala
ENST00000381128.2:c.*947T>G	ENSP00000370520.2:n.*947T>G
ENST00000381129.7:c.1075T>G	ENSP00000370521.3:p.Ser359Ala
ENST00000570466.5:c.1009T>G	ENSP00000461287.1:p.Ser337Ala
ENST00000570584.5:c.251+8379T>G
ENST00000574506.5:c.1039T>G	ENSP00000458456.1:p.Ser347Ala
ENST00000575265.5:c.*1046T>G	ENSP00000459673.1:n.*1046T>G
ENST00000576307.5:c.895T>G	ENSP00000459522.1:p.Ser299Ala
ENST00000576776.5:c.1003T>G	ENSP00000460827.1:p.Ser335Ala
ENST00000621374.4:c.*93T>G	ENSP00000481337.1:n.*93T>G
NM_001033054.2:c.886T>G	NP_001028226.1:p.Ser296Ala
NM_001033055.2:c.895T>G	NP_001028227.1:p.Ser299Ala
NM_001285399.2:c.1039T>G	NP_001272328.1:p.Ser347Ala
NM_001285400.2:c.1009T>G	NP_001272329.1:p.Ser337Ala
NM_001285401.2:c.1003T>G	NP_001272330.1:p.Ser335Ala
NM_001285402.1:c.958T>G	NP_001272331.1:p.Ser320Ala
NM_014336.4:c.1075T>G	NP_055151.3:p.Ser359Ala
NM_001033054.3:c.886T>G	NP_001028226.1:p.Ser296Ala
NM_001033055.3:c.895T>G	NP_001028227.1:p.Ser299Ala
NM_001285399.3:c.1039T>G	NP_001272328.1:p.Ser347Ala
NM_001285400.3:c.1009T>G	NP_001272329.1:p.Ser337Ala
NM_001285401.3:c.1003T>G	NP_001272330.1:p.Ser335Ala
NM_001285402.2:c.958T>G	NP_001272331.1:p.Ser320Ala
NM_001285403.3:c.*1046T>G	NP_001272332.1:n.*1046T>G
NM_014336.5:c.1075T>G MANE Select	NP_055151.3:p.Ser359Ala
NM_001285403.4:c.*1046T>G	NP_001272332.1:n.*1046T>G