Canonical Allele Identifier: CA397394200
Gene: AIPL1 HGNC NCBI

Linked Data

gnomAD v4: 17-6425482-G-A
MyVariant Identifiers: chr17:g.6328802G>A (hg19) chr17:g.6425482G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6425482G>A , CM000679.2:g.6425482G>A GRCh38
NC_000017.10:g.6328802G>A , CM000679.1:g.6328802G>A GRCh37
NC_000017.9:g.6269526G>A NCBI36
NG_008474.1:g.14718C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000381129.8:c.1133C>T MANE Select ENSP00000370521.3:p.Pro378Leu
ENST00000250087.9:c.944C>T ENSP00000250087.5:p.Pro315Leu
ENST00000381128.2:c.*1005C>T ENSP00000370520.2:n.*1005C>T
ENST00000381129.7:c.1133C>T ENSP00000370521.3:p.Pro378Leu
ENST00000570466.5:c.1067C>T ENSP00000461287.1:p.Pro356Leu
ENST00000570584.5:c.251+8437C>T
ENST00000574506.5:c.1097C>T ENSP00000458456.1:p.Pro366Leu
ENST00000575265.5:c.*1104C>T ENSP00000459673.1:n.*1104C>T
ENST00000576307.5:c.953C>T ENSP00000459522.1:p.Pro318Leu
ENST00000576776.5:c.1061C>T ENSP00000460827.1:p.Pro354Leu
ENST00000621374.4:c.*151C>T ENSP00000481337.1:n.*151C>T
NM_001033054.2:c.944C>T NP_001028226.1:p.Pro315Leu
NM_001033055.2:c.953C>T NP_001028227.1:p.Pro318Leu
NM_001285399.2:c.1097C>T NP_001272328.1:p.Pro366Leu
NM_001285400.2:c.1067C>T NP_001272329.1:p.Pro356Leu
NM_001285401.2:c.1061C>T NP_001272330.1:p.Pro354Leu
NM_001285402.1:c.1016C>T NP_001272331.1:p.Pro339Leu
NM_014336.4:c.1133C>T NP_055151.3:p.Pro378Leu
NM_001033054.3:c.944C>T NP_001028226.1:p.Pro315Leu
NM_001033055.3:c.953C>T NP_001028227.1:p.Pro318Leu
NM_001285399.3:c.1097C>T NP_001272328.1:p.Pro366Leu
NM_001285400.3:c.1067C>T NP_001272329.1:p.Pro356Leu
NM_001285401.3:c.1061C>T NP_001272330.1:p.Pro354Leu
NM_001285402.2:c.1016C>T NP_001272331.1:p.Pro339Leu
NM_001285403.3:c.*1104C>T NP_001272332.1:n.*1104C>T
NM_014336.5:c.1133C>T MANE Select NP_055151.3:p.Pro378Leu
NM_001285403.4:c.*1104C>T NP_001272332.1:n.*1104C>T
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