Canonical Allele Identifier: CA8328308

Gene: AIPL1

Linked Data

• ClinVar Variation Id: 1384035
• ClinVar RCV Id: RCV001895691 ; RCV002490116
• dbSNP Id: rs745586461
• ExAC: 17:6328823 G / C
• gnomAD v2: 17-6328823-G-C
• gnomAD v4: 17-6425503-G-C
• MyVariant Identifiers: chr17:g.6328823G>C (hg19) ; chr17:g.6425503G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425503G>C , CM000679.2:g.6425503G>C	GRCh38
NC_000017.10:g.6328823G>C , CM000679.1:g.6328823G>C	GRCh37
NC_000017.9:g.6269547G>C	NCBI36
NG_008474.1:g.14697C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.1112C>G MANE Select	ENSP00000370521.3:p.Ala371Gly
ENST00000250087.9:c.923C>G	ENSP00000250087.5:p.Ala308Gly
ENST00000381128.2:c.*984C>G	ENSP00000370520.2:n.*984C>G
ENST00000381129.7:c.1112C>G	ENSP00000370521.3:p.Ala371Gly
ENST00000570466.5:c.1046C>G	ENSP00000461287.1:p.Ala349Gly
ENST00000570584.5:c.251+8416C>G
ENST00000574506.5:c.1076C>G	ENSP00000458456.1:p.Ala359Gly
ENST00000575265.5:c.*1083C>G	ENSP00000459673.1:n.*1083C>G
ENST00000576307.5:c.932C>G	ENSP00000459522.1:p.Ala311Gly
ENST00000576776.5:c.1040C>G	ENSP00000460827.1:p.Ala347Gly
ENST00000621374.4:c.*130C>G	ENSP00000481337.1:n.*130C>G
NM_001033054.2:c.923C>G	NP_001028226.1:p.Ala308Gly
NM_001033055.2:c.932C>G	NP_001028227.1:p.Ala311Gly
NM_001285399.2:c.1076C>G	NP_001272328.1:p.Ala359Gly
NM_001285400.2:c.1046C>G	NP_001272329.1:p.Ala349Gly
NM_001285401.2:c.1040C>G	NP_001272330.1:p.Ala347Gly
NM_001285402.1:c.995C>G	NP_001272331.1:p.Ala332Gly
NM_014336.4:c.1112C>G	NP_055151.3:p.Ala371Gly
NM_001033054.3:c.923C>G	NP_001028226.1:p.Ala308Gly
NM_001033055.3:c.932C>G	NP_001028227.1:p.Ala311Gly
NM_001285399.3:c.1076C>G	NP_001272328.1:p.Ala359Gly
NM_001285400.3:c.1046C>G	NP_001272329.1:p.Ala349Gly
NM_001285401.3:c.1040C>G	NP_001272330.1:p.Ala347Gly
NM_001285402.2:c.995C>G	NP_001272331.1:p.Ala332Gly
NM_001285403.3:c.*1083C>G	NP_001272332.1:n.*1083C>G
NM_014336.5:c.1112C>G MANE Select	NP_055151.3:p.Ala371Gly
NM_001285403.4:c.*1083C>G	NP_001272332.1:n.*1083C>G