Canonical Allele Identifier: CA397394209

Gene: AIPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425486A>G , CM000679.2:g.6425486A>G	GRCh38
NC_000017.10:g.6328806A>G , CM000679.1:g.6328806A>G	GRCh37
NC_000017.9:g.6269530A>G	NCBI36
NG_008474.1:g.14714T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014336.5:c.1129T>C MANE Select	NP_055151.3:p.Ser377Pro
ENST00000381129.8:c.1129T>C MANE Select	ENSP00000370521.3:p.Ser377Pro
NM_001033054.2:c.940T>C	NP_001028226.1:p.Ser314Pro
NM_001033054.3:c.940T>C	NP_001028226.1:p.Ser314Pro
NM_001033055.2:c.949T>C	NP_001028227.1:p.Ser317Pro
NM_001033055.3:c.949T>C	NP_001028227.1:p.Ser317Pro
NM_001285399.2:c.1093T>C	NP_001272328.1:p.Ser365Pro
NM_001285399.3:c.1093T>C	NP_001272328.1:p.Ser365Pro
NM_001285400.2:c.1063T>C	NP_001272329.1:p.Ser355Pro
NM_001285400.3:c.1063T>C	NP_001272329.1:p.Ser355Pro
NM_001285401.2:c.1057T>C	NP_001272330.1:p.Ser353Pro
NM_001285401.3:c.1057T>C	NP_001272330.1:p.Ser353Pro
NM_001285402.1:c.1012T>C	NP_001272331.1:p.Ser338Pro
NM_001285402.2:c.1012T>C	NP_001272331.1:p.Ser338Pro
NM_001285403.3:c.*1100T>C	NP_001272332.1:n.*1100T>C
NM_001285403.4:c.*1100T>C	NP_001272332.1:n.*1100T>C
NM_014336.4:c.1129T>C	NP_055151.3:p.Ser377Pro
ENST00000250087.9:c.940T>C	ENSP00000250087.5:p.Ser314Pro
ENST00000381128.2:c.*1001T>C	ENSP00000370520.2:n.*1001T>C
ENST00000381129.7:c.1129T>C	ENSP00000370521.3:p.Ser377Pro
ENST00000570466.5:c.1063T>C	ENSP00000461287.1:p.Ser355Pro
ENST00000570584.5:c.251+8433T>C
ENST00000574506.5:c.1093T>C	ENSP00000458456.1:p.Ser365Pro
ENST00000575265.5:c.*1100T>C	ENSP00000459673.1:n.*1100T>C
ENST00000576307.5:c.949T>C	ENSP00000459522.1:p.Ser317Pro
ENST00000576776.5:c.1057T>C	ENSP00000460827.1:p.Ser353Pro
ENST00000621374.4:c.*147T>C	ENSP00000481337.1:n.*147T>C