Canonical Allele Identifier: CA497687408

Gene: AIPL1

Linked Data

• dbSNP Id: rs1315356890
• MyVariant Identifiers: chr17:g.6328945A>G (hg19) ; chr17:g.6425625A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425625A>G , CM000679.2:g.6425625A>G	GRCh38
NC_000017.10:g.6328945A>G , CM000679.1:g.6328945A>G	GRCh37
NC_000017.9:g.6269669A>G	NCBI36
NG_008474.1:g.14575T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.990T>C MANE Select	ENSP00000370521.3:p.Gly330=
ENST00000250087.9:c.801T>C	ENSP00000250087.5:p.Gly267=
ENST00000381128.2:c.*862T>C	ENSP00000370520.2:n.*862T>C
ENST00000381129.7:c.990T>C	ENSP00000370521.3:p.Gly330=
ENST00000570466.5:c.924T>C	ENSP00000461287.1:p.Gly308=
ENST00000570584.5:c.251+8294T>C
ENST00000574506.5:c.954T>C	ENSP00000458456.1:p.Gly318=
ENST00000575265.5:c.*961T>C	ENSP00000459673.1:n.*961T>C
ENST00000576307.5:c.810T>C	ENSP00000459522.1:p.Gly270=
ENST00000576776.5:c.918T>C	ENSP00000460827.1:p.Gly306=
ENST00000621374.4:c.*8T>C	ENSP00000481337.1:n.*8T>C
NM_001033054.2:c.801T>C	NP_001028226.1:p.Gly267=
NM_001033055.2:c.810T>C	NP_001028227.1:p.Gly270=
NM_001285399.2:c.954T>C	NP_001272328.1:p.Gly318=
NM_001285400.2:c.924T>C	NP_001272329.1:p.Gly308=
NM_001285401.2:c.918T>C	NP_001272330.1:p.Gly306=
NM_001285402.1:c.873T>C	NP_001272331.1:p.Gly291=
NM_014336.4:c.990T>C	NP_055151.3:p.Gly330=
NM_001033054.3:c.801T>C	NP_001028226.1:p.Gly267=
NM_001033055.3:c.810T>C	NP_001028227.1:p.Gly270=
NM_001285399.3:c.954T>C	NP_001272328.1:p.Gly318=
NM_001285400.3:c.924T>C	NP_001272329.1:p.Gly308=
NM_001285401.3:c.918T>C	NP_001272330.1:p.Gly306=
NM_001285402.2:c.873T>C	NP_001272331.1:p.Gly291=
NM_001285403.3:c.*961T>C	NP_001272332.1:n.*961T>C
NM_014336.5:c.990T>C MANE Select	NP_055151.3:p.Gly330=
NM_001285403.4:c.*961T>C	NP_001272332.1:n.*961T>C