Canonical Allele Identifier: CA397394831
Gene: AIPL1 HGNC NCBI

Linked Data

COSMIC: COSM707614
MyVariant Identifiers: chr17:g.6329102C>T (hg19) chr17:g.6425782C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6425782C>T , CM000679.2:g.6425782C>T GRCh38
NC_000017.10:g.6329102C>T , CM000679.1:g.6329102C>T GRCh37
NC_000017.9:g.6269826C>T NCBI36
NG_008474.1:g.14418G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000381129.8:c.833G>A MANE Select ENSP00000370521.3:p.Trp278Ter
ENST00000250087.9:c.644G>A ENSP00000250087.5:p.Trp215Ter
ENST00000381128.2:c.*705G>A ENSP00000370520.2:n.*705G>A
ENST00000381129.7:c.833G>A ENSP00000370521.3:p.Trp278Ter
ENST00000570466.5:c.767G>A ENSP00000461287.1:p.Trp256Ter
ENST00000570584.5:c.251+8137G>A
ENST00000574506.5:c.797G>A ENSP00000458456.1:p.Trp266Ter
ENST00000575265.5:c.*804G>A ENSP00000459673.1:n.*804G>A
ENST00000576307.5:c.653G>A ENSP00000459522.1:p.Trp218Ter
ENST00000576776.5:c.761G>A ENSP00000460827.1:p.Trp254Ter
ENST00000621374.4:c.833G>A ENSP00000481337.1:p.Trp278Ter
NM_001033054.2:c.644G>A NP_001028226.1:p.Trp215Ter
NM_001033055.2:c.653G>A NP_001028227.1:p.Trp218Ter
NM_001285399.2:c.797G>A NP_001272328.1:p.Trp266Ter
NM_001285400.2:c.767G>A NP_001272329.1:p.Trp256Ter
NM_001285401.2:c.761G>A NP_001272330.1:p.Trp254Ter
NM_001285402.1:c.716G>A NP_001272331.1:p.Trp239Ter
NM_014336.4:c.833G>A NP_055151.3:p.Trp278Ter
NM_001033054.3:c.644G>A NP_001028226.1:p.Trp215Ter
NM_001033055.3:c.653G>A NP_001028227.1:p.Trp218Ter
NM_001285399.3:c.797G>A NP_001272328.1:p.Trp266Ter
NM_001285400.3:c.767G>A NP_001272329.1:p.Trp256Ter
NM_001285401.3:c.761G>A NP_001272330.1:p.Trp254Ter
NM_001285402.2:c.716G>A NP_001272331.1:p.Trp239Ter
NM_001285403.3:c.*804G>A NP_001272332.1:n.*804G>A
NM_014336.5:c.833G>A MANE Select NP_055151.3:p.Trp278Ter
NM_001285403.4:c.*804G>A NP_001272332.1:n.*804G>A
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