Canonical Allele Identifier: CA8328329

Gene: AIPL1

Linked Data

• dbSNP Id: rs758054036
• ExAC: 17:6328916 G / T
• gnomAD v2: 17-6328916-G-T
• gnomAD v4: 17-6425596-G-T
• MyVariant Identifiers: chr17:g.6328916G>T (hg19) ; chr17:g.6425596G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425596G>T , CM000679.2:g.6425596G>T	GRCh38
NC_000017.10:g.6328916G>T , CM000679.1:g.6328916G>T	GRCh37
NC_000017.9:g.6269640G>T	NCBI36
NG_008474.1:g.14604C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.1019C>A MANE Select	ENSP00000370521.3:p.Thr340Lys
ENST00000250087.9:c.830C>A	ENSP00000250087.5:p.Thr277Lys
ENST00000381128.2:c.*891C>A	ENSP00000370520.2:n.*891C>A
ENST00000381129.7:c.1019C>A	ENSP00000370521.3:p.Thr340Lys
ENST00000570466.5:c.953C>A	ENSP00000461287.1:p.Thr318Lys
ENST00000570584.5:c.251+8323C>A
ENST00000574506.5:c.983C>A	ENSP00000458456.1:p.Thr328Lys
ENST00000575265.5:c.*990C>A	ENSP00000459673.1:n.*990C>A
ENST00000576307.5:c.839C>A	ENSP00000459522.1:p.Thr280Lys
ENST00000576776.5:c.947C>A	ENSP00000460827.1:p.Thr316Lys
ENST00000621374.4:c.*37C>A	ENSP00000481337.1:n.*37C>A
NM_001033054.2:c.830C>A	NP_001028226.1:p.Thr277Lys
NM_001033055.2:c.839C>A	NP_001028227.1:p.Thr280Lys
NM_001285399.2:c.983C>A	NP_001272328.1:p.Thr328Lys
NM_001285400.2:c.953C>A	NP_001272329.1:p.Thr318Lys
NM_001285401.2:c.947C>A	NP_001272330.1:p.Thr316Lys
NM_001285402.1:c.902C>A	NP_001272331.1:p.Thr301Lys
NM_014336.4:c.1019C>A	NP_055151.3:p.Thr340Lys
NM_001033054.3:c.830C>A	NP_001028226.1:p.Thr277Lys
NM_001033055.3:c.839C>A	NP_001028227.1:p.Thr280Lys
NM_001285399.3:c.983C>A	NP_001272328.1:p.Thr328Lys
NM_001285400.3:c.953C>A	NP_001272329.1:p.Thr318Lys
NM_001285401.3:c.947C>A	NP_001272330.1:p.Thr316Lys
NM_001285402.2:c.902C>A	NP_001272331.1:p.Thr301Lys
NM_001285403.3:c.*990C>A	NP_001272332.1:n.*990C>A
NM_014336.5:c.1019C>A MANE Select	NP_055151.3:p.Thr340Lys
NM_001285403.4:c.*990C>A	NP_001272332.1:n.*990C>A