Canonical Allele Identifier: CA397394305

Gene: AIPL1

Linked Data

• MyVariant Identifiers: chr17:g.6328857C>A (hg19) ; chr17:g.6425537C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425537C>A , CM000679.2:g.6425537C>A	GRCh38
NC_000017.10:g.6328857C>A , CM000679.1:g.6328857C>A	GRCh37
NC_000017.9:g.6269581C>A	NCBI36
NG_008474.1:g.14663G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.1078G>T MANE Select	ENSP00000370521.3:p.Ala360Ser
ENST00000250087.9:c.889G>T	ENSP00000250087.5:p.Ala297Ser
ENST00000381128.2:c.*950G>T	ENSP00000370520.2:n.*950G>T
ENST00000381129.7:c.1078G>T	ENSP00000370521.3:p.Ala360Ser
ENST00000570466.5:c.1012G>T	ENSP00000461287.1:p.Ala338Ser
ENST00000570584.5:c.251+8382G>T
ENST00000574506.5:c.1042G>T	ENSP00000458456.1:p.Ala348Ser
ENST00000575265.5:c.*1049G>T	ENSP00000459673.1:n.*1049G>T
ENST00000576307.5:c.898G>T	ENSP00000459522.1:p.Ala300Ser
ENST00000576776.5:c.1006G>T	ENSP00000460827.1:p.Ala336Ser
ENST00000621374.4:c.*96G>T	ENSP00000481337.1:n.*96G>T
NM_001033054.2:c.889G>T	NP_001028226.1:p.Ala297Ser
NM_001033055.2:c.898G>T	NP_001028227.1:p.Ala300Ser
NM_001285399.2:c.1042G>T	NP_001272328.1:p.Ala348Ser
NM_001285400.2:c.1012G>T	NP_001272329.1:p.Ala338Ser
NM_001285401.2:c.1006G>T	NP_001272330.1:p.Ala336Ser
NM_001285402.1:c.961G>T	NP_001272331.1:p.Ala321Ser
NM_014336.4:c.1078G>T	NP_055151.3:p.Ala360Ser
NM_001033054.3:c.889G>T	NP_001028226.1:p.Ala297Ser
NM_001033055.3:c.898G>T	NP_001028227.1:p.Ala300Ser
NM_001285399.3:c.1042G>T	NP_001272328.1:p.Ala348Ser
NM_001285400.3:c.1012G>T	NP_001272329.1:p.Ala338Ser
NM_001285401.3:c.1006G>T	NP_001272330.1:p.Ala336Ser
NM_001285402.2:c.961G>T	NP_001272331.1:p.Ala321Ser
NM_001285403.3:c.*1049G>T	NP_001272332.1:n.*1049G>T
NM_014336.5:c.1078G>T MANE Select	NP_055151.3:p.Ala360Ser
NM_001285403.4:c.*1049G>T	NP_001272332.1:n.*1049G>T