Canonical Allele Identifier: CA2635688745

Gene: AIPL1

Linked Data

• gnomAD v4: 17-6425338-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425338C>G , CM000679.2:g.6425338C>G	GRCh38
NC_000017.10:g.6328658C>G , CM000679.1:g.6328658C>G	GRCh37
NC_000017.9:g.6269382C>G	NCBI36
NG_008474.1:g.14862G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.*122G>C MANE Select	ENSP00000370521.3:n.*122G>C
ENST00000250087.9:c.*122G>C	ENSP00000250087.5:n.*122G>C
ENST00000381128.2:c.*1149G>C	ENSP00000370520.2:n.*1149G>C
ENST00000381129.7:c.*122G>C	ENSP00000370521.3:n.*122G>C
ENST00000570584.5:c.251+8581G>C
ENST00000574506.5:c.*122G>C	ENSP00000458456.1:n.*122G>C
ENST00000575265.5:c.*1248G>C	ENSP00000459673.1:n.*1248G>C
NM_001033054.2:c.*122G>C	NP_001028226.1:n.*122G>C
NM_001033055.2:c.*122G>C	NP_001028227.1:n.*122G>C
NM_001285399.2:c.*122G>C	NP_001272328.1:n.*122G>C
NM_001285400.2:c.*122G>C	NP_001272329.1:n.*122G>C
NM_001285401.2:c.*122G>C	NP_001272330.1:n.*122G>C
NM_001285402.1:c.*122G>C	NP_001272331.1:n.*122G>C
NM_014336.4:c.*122G>C	NP_055151.3:n.*122G>C
NM_001033054.3:c.*122G>C	NP_001028226.1:n.*122G>C
NM_001033055.3:c.*122G>C	NP_001028227.1:n.*122G>C
NM_001285399.3:c.*122G>C	NP_001272328.1:n.*122G>C
NM_001285400.3:c.*122G>C	NP_001272329.1:n.*122G>C
NM_001285401.3:c.*122G>C	NP_001272330.1:n.*122G>C
NM_001285402.2:c.*122G>C	NP_001272331.1:n.*122G>C
NM_001285403.3:c.*1248G>C	NP_001272332.1:n.*1248G>C
NM_014336.5:c.*122G>C MANE Select	NP_055151.3:n.*122G>C
NM_001285403.4:c.*1248G>C	NP_001272332.1:n.*1248G>C