Canonical Allele Identifier: CA8328340

Gene: AIPL1

Linked Data

• dbSNP Id: rs375096209
• ExAC: 17:6328965 G / A
• gnomAD v2: 17-6328965-G-A
• gnomAD v3: 17-6425645-G-A
• gnomAD v4: 17-6425645-G-A
• MyVariant Identifiers: chr17:g.6328965G>A (hg19) ; chr17:g.6425645G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425645G>A , CM000679.2:g.6425645G>A	GRCh38
NC_000017.10:g.6328965G>A , CM000679.1:g.6328965G>A	GRCh37
NC_000017.9:g.6269689G>A	NCBI36
NG_008474.1:g.14555C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.970C>T MANE Select	ENSP00000370521.3:p.Arg324Trp
ENST00000250087.9:c.781C>T	ENSP00000250087.5:p.Arg261Trp
ENST00000381128.2:c.*842C>T	ENSP00000370520.2:n.*842C>T
ENST00000381129.7:c.970C>T	ENSP00000370521.3:p.Arg324Trp
ENST00000570466.5:c.904C>T	ENSP00000461287.1:p.Arg302Trp
ENST00000570584.5:c.251+8274C>T
ENST00000574506.5:c.934C>T	ENSP00000458456.1:p.Arg312Trp
ENST00000575265.5:c.*941C>T	ENSP00000459673.1:n.*941C>T
ENST00000576307.5:c.790C>T	ENSP00000459522.1:p.Arg264Trp
ENST00000576776.5:c.898C>T	ENSP00000460827.1:p.Arg300Trp
ENST00000621374.4:c.969C>T	ENSP00000481337.1:p.Ala323=
NM_001033054.2:c.781C>T	NP_001028226.1:p.Arg261Trp
NM_001033055.2:c.790C>T	NP_001028227.1:p.Arg264Trp
NM_001285399.2:c.934C>T	NP_001272328.1:p.Arg312Trp
NM_001285400.2:c.904C>T	NP_001272329.1:p.Arg302Trp
NM_001285401.2:c.898C>T	NP_001272330.1:p.Arg300Trp
NM_001285402.1:c.853C>T	NP_001272331.1:p.Arg285Trp
NM_014336.4:c.970C>T	NP_055151.3:p.Arg324Trp
NM_001033054.3:c.781C>T	NP_001028226.1:p.Arg261Trp
NM_001033055.3:c.790C>T	NP_001028227.1:p.Arg264Trp
NM_001285399.3:c.934C>T	NP_001272328.1:p.Arg312Trp
NM_001285400.3:c.904C>T	NP_001272329.1:p.Arg302Trp
NM_001285401.3:c.898C>T	NP_001272330.1:p.Arg300Trp
NM_001285402.2:c.853C>T	NP_001272331.1:p.Arg285Trp
NM_001285403.3:c.*941C>T	NP_001272332.1:n.*941C>T
NM_014336.5:c.970C>T MANE Select	NP_055151.3:p.Arg324Trp
NM_001285403.4:c.*941C>T	NP_001272332.1:n.*941C>T