Canonical Allele Identifier: CA287324018

Gene: AIPL1

Linked Data

• dbSNP Id: rs755210824
• gnomAD v3: 17-6425856-T-C
• gnomAD v4: 17-6425856-T-C
• MyVariant Identifiers: chr17:g.6329176T>C (hg19) ; chr17:g.6425856T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425856T>C , CM000679.2:g.6425856T>C	GRCh38
NC_000017.10:g.6329176T>C , CM000679.1:g.6329176T>C	GRCh37
NC_000017.9:g.6269900T>C	NCBI36
NG_008474.1:g.14344A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.785-26A>G MANE Select	ENSP00000370521.3:n.785-26A>G
ENST00000250087.9:c.596-26A>G	ENSP00000250087.5:n.596-26A>G
ENST00000381128.2:c.*657-26A>G	ENSP00000370520.2:n.*657-26A>G
ENST00000381129.7:c.785-26A>G	ENSP00000370521.3:n.785-26A>G
ENST00000570466.5:c.719-26A>G	ENSP00000461287.1:n.719-26A>G
ENST00000570584.5:c.251+8063A>G
ENST00000574506.5:c.749-26A>G	ENSP00000458456.1:n.749-26A>G
ENST00000575265.5:c.*730A>G	ENSP00000459673.1:n.*730A>G
ENST00000576307.5:c.605-26A>G	ENSP00000459522.1:n.605-26A>G
ENST00000576776.5:c.713-26A>G	ENSP00000460827.1:n.713-26A>G
ENST00000621374.4:c.785-26A>G	ENSP00000481337.1:n.785-26A>G
NM_001033054.2:c.596-26A>G	NP_001028226.1:n.596-26A>G
NM_001033055.2:c.605-26A>G	NP_001028227.1:n.605-26A>G
NM_001285399.2:c.749-26A>G	NP_001272328.1:n.749-26A>G
NM_001285400.2:c.719-26A>G	NP_001272329.1:n.719-26A>G
NM_001285401.2:c.713-26A>G	NP_001272330.1:n.713-26A>G
NM_001285402.1:c.668-26A>G	NP_001272331.1:n.668-26A>G
NM_014336.4:c.785-26A>G	NP_055151.3:n.785-26A>G
NM_001033054.3:c.596-26A>G	NP_001028226.1:n.596-26A>G
NM_001033055.3:c.605-26A>G	NP_001028227.1:n.605-26A>G
NM_001285399.3:c.749-26A>G	NP_001272328.1:n.749-26A>G
NM_001285400.3:c.719-26A>G	NP_001272329.1:n.719-26A>G
NM_001285401.3:c.713-26A>G	NP_001272330.1:n.713-26A>G
NM_001285402.2:c.668-26A>G	NP_001272331.1:n.668-26A>G
NM_001285403.3:c.*730A>G	NP_001272332.1:n.*730A>G
NM_014336.5:c.785-26A>G MANE Select	NP_055151.3:n.785-26A>G
NM_001285403.4:c.*730A>G	NP_001272332.1:n.*730A>G