Canonical Allele Identifier: CA397394202
Gene: AIPL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6425483G>C , CM000679.2:g.6425483G>C GRCh38
NC_000017.10:g.6328803G>C , CM000679.1:g.6328803G>C GRCh37
NC_000017.9:g.6269527G>C NCBI36
NG_008474.1:g.14717C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000381129.8:c.1132C>G MANE Select ENSP00000370521.3:p.Pro378Ala
ENST00000250087.9:c.943C>G ENSP00000250087.5:p.Pro315Ala
ENST00000381128.2:c.*1004C>G ENSP00000370520.2:n.*1004C>G
ENST00000381129.7:c.1132C>G ENSP00000370521.3:p.Pro378Ala
ENST00000570466.5:c.1066C>G ENSP00000461287.1:p.Pro356Ala
ENST00000570584.5:c.251+8436C>G
ENST00000574506.5:c.1096C>G ENSP00000458456.1:p.Pro366Ala
ENST00000575265.5:c.*1103C>G ENSP00000459673.1:n.*1103C>G
ENST00000576307.5:c.952C>G ENSP00000459522.1:p.Pro318Ala
ENST00000576776.5:c.1060C>G ENSP00000460827.1:p.Pro354Ala
ENST00000621374.4:c.*150C>G ENSP00000481337.1:n.*150C>G
NM_001033054.2:c.943C>G NP_001028226.1:p.Pro315Ala
NM_001033055.2:c.952C>G NP_001028227.1:p.Pro318Ala
NM_001285399.2:c.1096C>G NP_001272328.1:p.Pro366Ala
NM_001285400.2:c.1066C>G NP_001272329.1:p.Pro356Ala
NM_001285401.2:c.1060C>G NP_001272330.1:p.Pro354Ala
NM_001285402.1:c.1015C>G NP_001272331.1:p.Pro339Ala
NM_014336.4:c.1132C>G NP_055151.3:p.Pro378Ala
NM_001033054.3:c.943C>G NP_001028226.1:p.Pro315Ala
NM_001033055.3:c.952C>G NP_001028227.1:p.Pro318Ala
NM_001285399.3:c.1096C>G NP_001272328.1:p.Pro366Ala
NM_001285400.3:c.1066C>G NP_001272329.1:p.Pro356Ala
NM_001285401.3:c.1060C>G NP_001272330.1:p.Pro354Ala
NM_001285402.2:c.1015C>G NP_001272331.1:p.Pro339Ala
NM_001285403.3:c.*1103C>G NP_001272332.1:n.*1103C>G
NM_014336.5:c.1132C>G MANE Select NP_055151.3:p.Pro378Ala
NM_001285403.4:c.*1103C>G NP_001272332.1:n.*1103C>G