Canonical Allele Identifier: CA497687271
Gene: AIPL1 HGNC NCBI

Linked Data

gnomAD v4: 17-6425478-C-T
MyVariant Identifiers: chr17:g.6328798C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6425478C>T , CM000679.2:g.6425478C>T GRCh38
NC_000017.10:g.6328798C>T , CM000679.1:g.6328798C>T GRCh37
NC_000017.9:g.6269522C>T NCBI36
NG_008474.1:g.14722G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000381129.8:c.1137G>A MANE Select ENSP00000370521.3:p.Gly379=
ENST00000250087.9:c.948G>A ENSP00000250087.5:p.Gly316=
ENST00000381128.2:c.*1009G>A ENSP00000370520.2:n.*1009G>A
ENST00000381129.7:c.1137G>A ENSP00000370521.3:p.Gly379=
ENST00000570466.5:c.1071G>A ENSP00000461287.1:p.Gly357=
ENST00000570584.5:c.251+8441G>A
ENST00000574506.5:c.1101G>A ENSP00000458456.1:p.Gly367=
ENST00000575265.5:c.*1108G>A ENSP00000459673.1:n.*1108G>A
ENST00000576307.5:c.957G>A ENSP00000459522.1:p.Gly319=
ENST00000576776.5:c.1065G>A ENSP00000460827.1:p.Gly355=
ENST00000621374.4:c.*155G>A ENSP00000481337.1:n.*155G>A
NM_001033054.2:c.948G>A NP_001028226.1:p.Gly316=
NM_001033055.2:c.957G>A NP_001028227.1:p.Gly319=
NM_001285399.2:c.1101G>A NP_001272328.1:p.Gly367=
NM_001285400.2:c.1071G>A NP_001272329.1:p.Gly357=
NM_001285401.2:c.1065G>A NP_001272330.1:p.Gly355=
NM_001285402.1:c.1020G>A NP_001272331.1:p.Gly340=
NM_014336.4:c.1137G>A NP_055151.3:p.Gly379=
NM_001033054.3:c.948G>A NP_001028226.1:p.Gly316=
NM_001033055.3:c.957G>A NP_001028227.1:p.Gly319=
NM_001285399.3:c.1101G>A NP_001272328.1:p.Gly367=
NM_001285400.3:c.1071G>A NP_001272329.1:p.Gly357=
NM_001285401.3:c.1065G>A NP_001272330.1:p.Gly355=
NM_001285402.2:c.1020G>A NP_001272331.1:p.Gly340=
NM_001285403.3:c.*1108G>A NP_001272332.1:n.*1108G>A
NM_014336.5:c.1137G>A MANE Select NP_055151.3:p.Gly379=
NM_001285403.4:c.*1108G>A NP_001272332.1:n.*1108G>A