Canonical Allele Identifier: CA397394184
Gene: AIPL1 HGNC NCBI

Linked Data

COSMIC: COSM5055698
MyVariant Identifiers: chr17:g.6328794A>G (hg19) chr17:g.6425474A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6425474A>G , CM000679.2:g.6425474A>G GRCh38
NC_000017.10:g.6328794A>G , CM000679.1:g.6328794A>G GRCh37
NC_000017.9:g.6269518A>G NCBI36
NG_008474.1:g.14726T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000381129.8:c.1141T>C MANE Select ENSP00000370521.3:p.Ser381Pro
ENST00000250087.9:c.952T>C ENSP00000250087.5:p.Ser318Pro
ENST00000381128.2:c.*1013T>C ENSP00000370520.2:n.*1013T>C
ENST00000381129.7:c.1141T>C ENSP00000370521.3:p.Ser381Pro
ENST00000570466.5:c.1075T>C ENSP00000461287.1:p.Ser359Pro
ENST00000570584.5:c.251+8445T>C
ENST00000574506.5:c.1105T>C ENSP00000458456.1:p.Ser369Pro
ENST00000575265.5:c.*1112T>C ENSP00000459673.1:n.*1112T>C
ENST00000576307.5:c.961T>C ENSP00000459522.1:p.Ser321Pro
ENST00000576776.5:c.1069T>C ENSP00000460827.1:p.Ser357Pro
ENST00000621374.4:c.*159T>C ENSP00000481337.1:n.*159T>C
NM_001033054.2:c.952T>C NP_001028226.1:p.Ser318Pro
NM_001033055.2:c.961T>C NP_001028227.1:p.Ser321Pro
NM_001285399.2:c.1105T>C NP_001272328.1:p.Ser369Pro
NM_001285400.2:c.1075T>C NP_001272329.1:p.Ser359Pro
NM_001285401.2:c.1069T>C NP_001272330.1:p.Ser357Pro
NM_001285402.1:c.1024T>C NP_001272331.1:p.Ser342Pro
NM_014336.4:c.1141T>C NP_055151.3:p.Ser381Pro
NM_001033054.3:c.952T>C NP_001028226.1:p.Ser318Pro
NM_001033055.3:c.961T>C NP_001028227.1:p.Ser321Pro
NM_001285399.3:c.1105T>C NP_001272328.1:p.Ser369Pro
NM_001285400.3:c.1075T>C NP_001272329.1:p.Ser359Pro
NM_001285401.3:c.1069T>C NP_001272330.1:p.Ser357Pro
NM_001285402.2:c.1024T>C NP_001272331.1:p.Ser342Pro
NM_001285403.3:c.*1112T>C NP_001272332.1:n.*1112T>C
NM_014336.5:c.1141T>C MANE Select NP_055151.3:p.Ser381Pro
NM_001285403.4:c.*1112T>C NP_001272332.1:n.*1112T>C
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