Canonical Allele Identifier: CA397394530

Gene: AIPL1

Linked Data

• MyVariant Identifiers: chr17:g.6328967C>T (hg19) ; chr17:g.6425647C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425647C>T , CM000679.2:g.6425647C>T	GRCh38
NC_000017.10:g.6328967C>T , CM000679.1:g.6328967C>T	GRCh37
NC_000017.9:g.6269691C>T	NCBI36
NG_008474.1:g.14553G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.968G>A MANE Select	ENSP00000370521.3:p.Cys323Tyr
ENST00000250087.9:c.779G>A	ENSP00000250087.5:p.Cys260Tyr
ENST00000381128.2:c.*840G>A	ENSP00000370520.2:n.*840G>A
ENST00000381129.7:c.968G>A	ENSP00000370521.3:p.Cys323Tyr
ENST00000570466.5:c.902G>A	ENSP00000461287.1:p.Cys301Tyr
ENST00000570584.5:c.251+8272G>A
ENST00000574506.5:c.932G>A	ENSP00000458456.1:p.Cys311Tyr
ENST00000575265.5:c.*939G>A	ENSP00000459673.1:n.*939G>A
ENST00000576307.5:c.788G>A	ENSP00000459522.1:p.Cys263Tyr
ENST00000576776.5:c.896G>A	ENSP00000460827.1:p.Cys299Tyr
ENST00000621374.4:c.967G>A	ENSP00000481337.1:p.Ala323Thr
NM_001033054.2:c.779G>A	NP_001028226.1:p.Cys260Tyr
NM_001033055.2:c.788G>A	NP_001028227.1:p.Cys263Tyr
NM_001285399.2:c.932G>A	NP_001272328.1:p.Cys311Tyr
NM_001285400.2:c.902G>A	NP_001272329.1:p.Cys301Tyr
NM_001285401.2:c.896G>A	NP_001272330.1:p.Cys299Tyr
NM_001285402.1:c.851G>A	NP_001272331.1:p.Cys284Tyr
NM_014336.4:c.968G>A	NP_055151.3:p.Cys323Tyr
NM_001033054.3:c.779G>A	NP_001028226.1:p.Cys260Tyr
NM_001033055.3:c.788G>A	NP_001028227.1:p.Cys263Tyr
NM_001285399.3:c.932G>A	NP_001272328.1:p.Cys311Tyr
NM_001285400.3:c.902G>A	NP_001272329.1:p.Cys301Tyr
NM_001285401.3:c.896G>A	NP_001272330.1:p.Cys299Tyr
NM_001285402.2:c.851G>A	NP_001272331.1:p.Cys284Tyr
NM_001285403.3:c.*939G>A	NP_001272332.1:n.*939G>A
NM_014336.5:c.968G>A MANE Select	NP_055151.3:p.Cys323Tyr
NM_001285403.4:c.*939G>A	NP_001272332.1:n.*939G>A