Canonical Allele Identifier: CA397394169

Gene: AIPL1

Linked Data

• gnomAD v4: 17-6425466-C-A
• MyVariant Identifiers: chr17:g.6328786C>A (hg19) ; chr17:g.6425466C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425466C>A , CM000679.2:g.6425466C>A	GRCh38
NC_000017.10:g.6328786C>A , CM000679.1:g.6328786C>A	GRCh37
NC_000017.9:g.6269510C>A	NCBI36
NG_008474.1:g.14734G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000381129.8:c.1149G>T MANE Select	ENSP00000370521.3:p.Gln383His
ENST00000250087.9:c.960G>T	ENSP00000250087.5:p.Gln320His
ENST00000381128.2:c.*1021G>T	ENSP00000370520.2:n.*1021G>T
ENST00000381129.7:c.1149G>T	ENSP00000370521.3:p.Gln383His
ENST00000570466.5:c.1083G>T	ENSP00000461287.1:p.Gln361His
ENST00000570584.5:c.251+8453G>T
ENST00000574506.5:c.1113G>T	ENSP00000458456.1:p.Gln371His
ENST00000575265.5:c.*1120G>T	ENSP00000459673.1:n.*1120G>T
ENST00000576307.5:c.969G>T	ENSP00000459522.1:p.Gln323His
ENST00000576776.5:c.1077G>T	ENSP00000460827.1:p.Gln359His
ENST00000621374.4:c.*167G>T	ENSP00000481337.1:n.*167G>T
NM_001033054.2:c.960G>T	NP_001028226.1:p.Gln320His
NM_001033055.2:c.969G>T	NP_001028227.1:p.Gln323His
NM_001285399.2:c.1113G>T	NP_001272328.1:p.Gln371His
NM_001285400.2:c.1083G>T	NP_001272329.1:p.Gln361His
NM_001285401.2:c.1077G>T	NP_001272330.1:p.Gln359His
NM_001285402.1:c.1032G>T	NP_001272331.1:p.Gln344His
NM_014336.4:c.1149G>T	NP_055151.3:p.Gln383His
NM_001033054.3:c.960G>T	NP_001028226.1:p.Gln320His
NM_001033055.3:c.969G>T	NP_001028227.1:p.Gln323His
NM_001285399.3:c.1113G>T	NP_001272328.1:p.Gln371His
NM_001285400.3:c.1083G>T	NP_001272329.1:p.Gln361His
NM_001285401.3:c.1077G>T	NP_001272330.1:p.Gln359His
NM_001285402.2:c.1032G>T	NP_001272331.1:p.Gln344His
NM_001285403.3:c.*1120G>T	NP_001272332.1:n.*1120G>T
NM_014336.5:c.1149G>T MANE Select	NP_055151.3:p.Gln383His
NM_001285403.4:c.*1120G>T	NP_001272332.1:n.*1120G>T