Canonical Allele Identifier: CA8328342

Gene: AIPL1

Linked Data

• dbSNP Id: rs761845774
• ExAC: 17:6328969 G / A
• gnomAD v2: 17-6328969-G-A
• gnomAD v3: 17-6425649-G-A
• gnomAD v4: 17-6425649-G-A
• MyVariant Identifiers: chr17:g.6328969G>A (hg19) ; chr17:g.6425649G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425649G>A , CM000679.2:g.6425649G>A	GRCh38
NC_000017.10:g.6328969G>A , CM000679.1:g.6328969G>A	GRCh37
NC_000017.9:g.6269693G>A	NCBI36
NG_008474.1:g.14551C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.966C>T MANE Select	ENSP00000370521.3:p.Arg322=
ENST00000250087.9:c.777C>T	ENSP00000250087.5:p.Arg259=
ENST00000381128.2:c.*838C>T	ENSP00000370520.2:n.*838C>T
ENST00000381129.7:c.966C>T	ENSP00000370521.3:p.Arg322=
ENST00000570466.5:c.900C>T	ENSP00000461287.1:p.Arg300=
ENST00000570584.5:c.251+8270C>T
ENST00000574506.5:c.930C>T	ENSP00000458456.1:p.Arg310=
ENST00000575265.5:c.*937C>T	ENSP00000459673.1:n.*937C>T
ENST00000576307.5:c.786C>T	ENSP00000459522.1:p.Arg262=
ENST00000576776.5:c.894C>T	ENSP00000460827.1:p.Arg298=
ENST00000621374.4:c.965C>T	ENSP00000481337.1:p.Ala322Val
NM_001033054.2:c.777C>T	NP_001028226.1:p.Arg259=
NM_001033055.2:c.786C>T	NP_001028227.1:p.Arg262=
NM_001285399.2:c.930C>T	NP_001272328.1:p.Arg310=
NM_001285400.2:c.900C>T	NP_001272329.1:p.Arg300=
NM_001285401.2:c.894C>T	NP_001272330.1:p.Arg298=
NM_001285402.1:c.849C>T	NP_001272331.1:p.Arg283=
NM_014336.4:c.966C>T	NP_055151.3:p.Arg322=
NM_001033054.3:c.777C>T	NP_001028226.1:p.Arg259=
NM_001033055.3:c.786C>T	NP_001028227.1:p.Arg262=
NM_001285399.3:c.930C>T	NP_001272328.1:p.Arg310=
NM_001285400.3:c.900C>T	NP_001272329.1:p.Arg300=
NM_001285401.3:c.894C>T	NP_001272330.1:p.Arg298=
NM_001285402.2:c.849C>T	NP_001272331.1:p.Arg283=
NM_001285403.3:c.*937C>T	NP_001272332.1:n.*937C>T
NM_014336.5:c.966C>T MANE Select	NP_055151.3:p.Arg322=
NM_001285403.4:c.*937C>T	NP_001272332.1:n.*937C>T