Canonical Allele Identifier: CA8328687
Gene: AIPL1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.6435121G>T
GRCh37 chr17:g.6338441G>T
gnomAD v2:
17:6338441 G / T
gnomAD v3:
17:6435121 G / T
gnomAD v4:
chr17-6435121-G-T
Joint Max Group AF 0.00372585 (AFR)
Genomes Max Group AF 0.00378925 (AFR)
Exomes Max Group AF 0.0033123 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6435121G>T , CM000679.2:g.6435121G>T GRCh38
NC_000017.10:g.6338441G>T , CM000679.1:g.6338441G>T GRCh37
NC_000017.9:g.6279165G>T NCBI36
NG_008474.1:g.5079C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381129.8:c.-17C>A MANE Select ENSP00000370521.3:n.-17C>A
ENST00000250087.9:c.-17C>A ENSP00000250087.5:n.-17C>A
ENST00000381128.2:c.-17C>A ENSP00000370520.2:n.-17C>A
ENST00000381129.7:c.-17C>A ENSP00000370521.3:n.-17C>A
ENST00000570466.5:c.-17C>A ENSP00000461287.1:n.-17C>A
ENST00000574506.5:c.-17C>A ENSP00000458456.1:n.-17C>A
ENST00000575265.5:c.-17C>A ENSP00000459673.1:n.-17C>A
ENST00000576307.5:c.-17C>A ENSP00000459522.1:n.-17C>A
ENST00000576776.5:c.-17C>A ENSP00000460827.1:n.-17C>A
NM_001033054.2:c.-17C>A NP_001028226.1:n.-17C>A
NM_001033055.2:c.-17C>A NP_001028227.1:n.-17C>A
NM_001285399.2:c.-17C>A NP_001272328.1:n.-17C>A
NM_001285400.2:c.-17C>A NP_001272329.1:n.-17C>A
NM_001285401.2:c.-17C>A NP_001272330.1:n.-17C>A
NM_001285402.1:c.-192C>A NP_001272331.1:n.-192C>A
NM_001285403.2:c.-17C>A NP_001272332.1:n.-17C>A
NM_014336.4:c.-17C>A NP_055151.3:n.-17C>A
NM_001033054.3:c.-17C>A NP_001028226.1:n.-17C>A
NM_001033055.3:c.-17C>A NP_001028227.1:n.-17C>A
NM_001285399.3:c.-17C>A NP_001272328.1:n.-17C>A
NM_001285400.3:c.-17C>A NP_001272329.1:n.-17C>A
NM_001285401.3:c.-17C>A NP_001272330.1:n.-17C>A
NM_001285402.2:c.-192C>A NP_001272331.1:n.-192C>A
NM_001285403.3:c.-17C>A NP_001272332.1:n.-17C>A
NM_014336.5:c.-17C>A MANE Select NP_055151.3:n.-17C>A
NM_001285403.4:c.-17C>A NP_001272332.1:n.-17C>A
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