Canonical Allele Identifier: CA397394526

Gene: AIPL1

Linked Data

• MyVariant Identifiers: chr17:g.6328966G>T (hg19) ; chr17:g.6425646G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425646G>T , CM000679.2:g.6425646G>T	GRCh38
NC_000017.10:g.6328966G>T , CM000679.1:g.6328966G>T	GRCh37
NC_000017.9:g.6269690G>T	NCBI36
NG_008474.1:g.14554C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.969C>A MANE Select	ENSP00000370521.3:p.Cys323Ter
ENST00000250087.9:c.780C>A	ENSP00000250087.5:p.Cys260Ter
ENST00000381128.2:c.*841C>A	ENSP00000370520.2:n.*841C>A
ENST00000381129.7:c.969C>A	ENSP00000370521.3:p.Cys323Ter
ENST00000570466.5:c.903C>A	ENSP00000461287.1:p.Cys301Ter
ENST00000570584.5:c.251+8273C>A
ENST00000574506.5:c.933C>A	ENSP00000458456.1:p.Cys311Ter
ENST00000575265.5:c.*940C>A	ENSP00000459673.1:n.*940C>A
ENST00000576307.5:c.789C>A	ENSP00000459522.1:p.Cys263Ter
ENST00000576776.5:c.897C>A	ENSP00000460827.1:p.Cys299Ter
ENST00000621374.4:c.968C>A	ENSP00000481337.1:p.Ala323Asp
NM_001033054.2:c.780C>A	NP_001028226.1:p.Cys260Ter
NM_001033055.2:c.789C>A	NP_001028227.1:p.Cys263Ter
NM_001285399.2:c.933C>A	NP_001272328.1:p.Cys311Ter
NM_001285400.2:c.903C>A	NP_001272329.1:p.Cys301Ter
NM_001285401.2:c.897C>A	NP_001272330.1:p.Cys299Ter
NM_001285402.1:c.852C>A	NP_001272331.1:p.Cys284Ter
NM_014336.4:c.969C>A	NP_055151.3:p.Cys323Ter
NM_001033054.3:c.780C>A	NP_001028226.1:p.Cys260Ter
NM_001033055.3:c.789C>A	NP_001028227.1:p.Cys263Ter
NM_001285399.3:c.933C>A	NP_001272328.1:p.Cys311Ter
NM_001285400.3:c.903C>A	NP_001272329.1:p.Cys301Ter
NM_001285401.3:c.897C>A	NP_001272330.1:p.Cys299Ter
NM_001285402.2:c.852C>A	NP_001272331.1:p.Cys284Ter
NM_001285403.3:c.*940C>A	NP_001272332.1:n.*940C>A
NM_014336.5:c.969C>A MANE Select	NP_055151.3:p.Cys323Ter
NM_001285403.4:c.*940C>A	NP_001272332.1:n.*940C>A