Canonical Allele Identifier: CA774024371

Gene: AIPL1

Linked Data

• dbSNP Id: rs1259820362
• gnomAD v3: 17-6425397-A-C
• gnomAD v4: 17-6425397-A-C
• MyVariant Identifiers: chr17:g.6328717A>C (hg19) ; chr17:g.6425397A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425397A>C , CM000679.2:g.6425397A>C	GRCh38
NC_000017.10:g.6328717A>C , CM000679.1:g.6328717A>C	GRCh37
NC_000017.9:g.6269441A>C	NCBI36
NG_008474.1:g.14803T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000381129.8:c.*63T>G MANE Select	ENSP00000370521.3:n.*63T>G
ENST00000250087.9:c.*63T>G	ENSP00000250087.5:n.*63T>G
ENST00000381128.2:c.*1090T>G	ENSP00000370520.2:n.*1090T>G
ENST00000381129.7:c.*63T>G	ENSP00000370521.3:n.*63T>G
ENST00000570584.5:c.251+8522T>G
ENST00000574506.5:c.*63T>G	ENSP00000458456.1:n.*63T>G
ENST00000575265.5:c.*1189T>G	ENSP00000459673.1:n.*1189T>G
ENST00000621374.4:c.*236T>G	ENSP00000481337.1:n.*236T>G
NM_001033054.2:c.*63T>G	NP_001028226.1:n.*63T>G
NM_001033055.2:c.*63T>G	NP_001028227.1:n.*63T>G
NM_001285399.2:c.*63T>G	NP_001272328.1:n.*63T>G
NM_001285400.2:c.*63T>G	NP_001272329.1:n.*63T>G
NM_001285401.2:c.*63T>G	NP_001272330.1:n.*63T>G
NM_001285402.1:c.*63T>G	NP_001272331.1:n.*63T>G
NM_014336.4:c.*63T>G	NP_055151.3:n.*63T>G
NM_001033054.3:c.*63T>G	NP_001028226.1:n.*63T>G
NM_001033055.3:c.*63T>G	NP_001028227.1:n.*63T>G
NM_001285399.3:c.*63T>G	NP_001272328.1:n.*63T>G
NM_001285400.3:c.*63T>G	NP_001272329.1:n.*63T>G
NM_001285401.3:c.*63T>G	NP_001272330.1:n.*63T>G
NM_001285402.2:c.*63T>G	NP_001272331.1:n.*63T>G
NM_001285403.3:c.*1189T>G	NP_001272332.1:n.*1189T>G
NM_014336.5:c.*63T>G MANE Select	NP_055151.3:n.*63T>G
NM_001285403.4:c.*1189T>G	NP_001272332.1:n.*1189T>G