Canonical Allele Identifier: CA8328301
Gene: AIPL1 HGNC NCBI

Linked Data

dbSNP Id: rs751647463
ExAC: 17:6328790 A / C
gnomAD v2: 17-6328790-A-C
MyVariant Identifiers: chr17:g.6328790A>C (hg19) chr17:g.6425470A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6425470A>C , CM000679.2:g.6425470A>C GRCh38
NC_000017.10:g.6328790A>C , CM000679.1:g.6328790A>C GRCh37
NC_000017.9:g.6269514A>C NCBI36
NG_008474.1:g.14730T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000381129.8:c.1145T>G MANE Select ENSP00000370521.3:p.Leu382Arg
ENST00000250087.9:c.956T>G ENSP00000250087.5:p.Leu319Arg
ENST00000381128.2:c.*1017T>G ENSP00000370520.2:n.*1017T>G
ENST00000381129.7:c.1145T>G ENSP00000370521.3:p.Leu382Arg
ENST00000570466.5:c.1079T>G ENSP00000461287.1:p.Leu360Arg
ENST00000570584.5:c.251+8449T>G
ENST00000574506.5:c.1109T>G ENSP00000458456.1:p.Leu370Arg
ENST00000575265.5:c.*1116T>G ENSP00000459673.1:n.*1116T>G
ENST00000576307.5:c.965T>G ENSP00000459522.1:p.Leu322Arg
ENST00000576776.5:c.1073T>G ENSP00000460827.1:p.Leu358Arg
ENST00000621374.4:c.*163T>G ENSP00000481337.1:n.*163T>G
NM_001033054.2:c.956T>G NP_001028226.1:p.Leu319Arg
NM_001033055.2:c.965T>G NP_001028227.1:p.Leu322Arg
NM_001285399.2:c.1109T>G NP_001272328.1:p.Leu370Arg
NM_001285400.2:c.1079T>G NP_001272329.1:p.Leu360Arg
NM_001285401.2:c.1073T>G NP_001272330.1:p.Leu358Arg
NM_001285402.1:c.1028T>G NP_001272331.1:p.Leu343Arg
NM_014336.4:c.1145T>G NP_055151.3:p.Leu382Arg
NM_001033054.3:c.956T>G NP_001028226.1:p.Leu319Arg
NM_001033055.3:c.965T>G NP_001028227.1:p.Leu322Arg
NM_001285399.3:c.1109T>G NP_001272328.1:p.Leu370Arg
NM_001285400.3:c.1079T>G NP_001272329.1:p.Leu360Arg
NM_001285401.3:c.1073T>G NP_001272330.1:p.Leu358Arg
NM_001285402.2:c.1028T>G NP_001272331.1:p.Leu343Arg
NM_001285403.3:c.*1116T>G NP_001272332.1:n.*1116T>G
NM_014336.5:c.1145T>G MANE Select NP_055151.3:p.Leu382Arg
NM_001285403.4:c.*1116T>G NP_001272332.1:n.*1116T>G
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