Canonical Allele Identifier: CA397394593

Gene: AIPL1

Linked Data

• MyVariant Identifiers: chr17:g.6328991T>A (hg19) ; chr17:g.6425671T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425671T>A , CM000679.2:g.6425671T>A	GRCh38
NC_000017.10:g.6328991T>A , CM000679.1:g.6328991T>A	GRCh37
NC_000017.9:g.6269715T>A	NCBI36
NG_008474.1:g.14529A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.944A>T MANE Select	ENSP00000370521.3:p.Lys315Met
ENST00000250087.9:c.755A>T	ENSP00000250087.5:p.Lys252Met
ENST00000381128.2:c.*816A>T	ENSP00000370520.2:n.*816A>T
ENST00000381129.7:c.944A>T	ENSP00000370521.3:p.Lys315Met
ENST00000570466.5:c.878A>T	ENSP00000461287.1:p.Lys293Met
ENST00000570584.5:c.251+8248A>T
ENST00000574506.5:c.908A>T	ENSP00000458456.1:p.Lys303Met
ENST00000575265.5:c.*915A>T	ENSP00000459673.1:n.*915A>T
ENST00000576307.5:c.764A>T	ENSP00000459522.1:p.Lys255Met
ENST00000576776.5:c.872A>T	ENSP00000460827.1:p.Lys291Met
ENST00000621374.4:c.943A>T	ENSP00000481337.1:p.Ser315Cys
NM_001033054.2:c.755A>T	NP_001028226.1:p.Lys252Met
NM_001033055.2:c.764A>T	NP_001028227.1:p.Lys255Met
NM_001285399.2:c.908A>T	NP_001272328.1:p.Lys303Met
NM_001285400.2:c.878A>T	NP_001272329.1:p.Lys293Met
NM_001285401.2:c.872A>T	NP_001272330.1:p.Lys291Met
NM_001285402.1:c.827A>T	NP_001272331.1:p.Lys276Met
NM_014336.4:c.944A>T	NP_055151.3:p.Lys315Met
NM_001033054.3:c.755A>T	NP_001028226.1:p.Lys252Met
NM_001033055.3:c.764A>T	NP_001028227.1:p.Lys255Met
NM_001285399.3:c.908A>T	NP_001272328.1:p.Lys303Met
NM_001285400.3:c.878A>T	NP_001272329.1:p.Lys293Met
NM_001285401.3:c.872A>T	NP_001272330.1:p.Lys291Met
NM_001285402.2:c.827A>T	NP_001272331.1:p.Lys276Met
NM_001285403.3:c.*915A>T	NP_001272332.1:n.*915A>T
NM_014336.5:c.944A>T MANE Select	NP_055151.3:p.Lys315Met
NM_001285403.4:c.*915A>T	NP_001272332.1:n.*915A>T