Canonical Allele Identifier: CA2245346188
Gene: AIPL1 HGNC NCBI

Linked Data

dbSNP Id: rs1911785556

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6425275T>C , CM000679.2:g.6425275T>C GRCh38
NC_000017.10:g.6328595T>C , CM000679.1:g.6328595T>C GRCh37
NC_000017.9:g.6269319T>C NCBI36
NG_008474.1:g.14925A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000381129.8:c.*185A>G MANE Select ENSP00000370521.3:n.*185A>G
ENST00000250087.9:c.*185A>G ENSP00000250087.5:n.*185A>G
ENST00000381128.2:c.*1212A>G ENSP00000370520.2:n.*1212A>G
ENST00000381129.7:c.*185A>G ENSP00000370521.3:n.*185A>G
ENST00000570584.5:c.251+8644A>G
ENST00000574506.5:c.*185A>G ENSP00000458456.1:n.*185A>G
NM_001033054.2:c.*185A>G NP_001028226.1:n.*185A>G
NM_001033055.2:c.*185A>G NP_001028227.1:n.*185A>G
NM_001285399.2:c.*185A>G NP_001272328.1:n.*185A>G
NM_001285400.2:c.*185A>G NP_001272329.1:n.*185A>G
NM_001285401.2:c.*185A>G NP_001272330.1:n.*185A>G
NM_001285402.1:c.*185A>G NP_001272331.1:n.*185A>G
NM_014336.4:c.*185A>G NP_055151.3:n.*185A>G
NM_001033054.3:c.*185A>G NP_001028226.1:n.*185A>G
NM_001033055.3:c.*185A>G NP_001028227.1:n.*185A>G
NM_001285399.3:c.*185A>G NP_001272328.1:n.*185A>G
NM_001285400.3:c.*185A>G NP_001272329.1:n.*185A>G
NM_001285401.3:c.*185A>G NP_001272330.1:n.*185A>G
NM_001285402.2:c.*185A>G NP_001272331.1:n.*185A>G
NM_014336.5:c.*185A>G MANE Select NP_055151.3:n.*185A>G
NM_001285403.4:c.*1311A>G NP_001272332.1:n.*1311A>G