Canonical Allele Identifier: CA397394585

Gene: AIPL1

Linked Data

• gnomAD v4: 17-6425669-G-A
• MyVariant Identifiers: chr17:g.6328989G>A (hg19) ; chr17:g.6425669G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425669G>A , CM000679.2:g.6425669G>A	GRCh38
NC_000017.10:g.6328989G>A , CM000679.1:g.6328989G>A	GRCh37
NC_000017.9:g.6269713G>A	NCBI36
NG_008474.1:g.14531C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.946C>T MANE Select	ENSP00000370521.3:p.Gln316Ter
ENST00000250087.9:c.757C>T	ENSP00000250087.5:p.Gln253Ter
ENST00000381128.2:c.*818C>T	ENSP00000370520.2:n.*818C>T
ENST00000381129.7:c.946C>T	ENSP00000370521.3:p.Gln316Ter
ENST00000570466.5:c.880C>T	ENSP00000461287.1:p.Gln294Ter
ENST00000570584.5:c.251+8250C>T
ENST00000574506.5:c.910C>T	ENSP00000458456.1:p.Gln304Ter
ENST00000575265.5:c.*917C>T	ENSP00000459673.1:n.*917C>T
ENST00000576307.5:c.766C>T	ENSP00000459522.1:p.Gln256Ter
ENST00000576776.5:c.874C>T	ENSP00000460827.1:p.Gln292Ter
ENST00000621374.4:c.945C>T	ENSP00000481337.1:p.Ser315=
NM_001033054.2:c.757C>T	NP_001028226.1:p.Gln253Ter
NM_001033055.2:c.766C>T	NP_001028227.1:p.Gln256Ter
NM_001285399.2:c.910C>T	NP_001272328.1:p.Gln304Ter
NM_001285400.2:c.880C>T	NP_001272329.1:p.Gln294Ter
NM_001285401.2:c.874C>T	NP_001272330.1:p.Gln292Ter
NM_001285402.1:c.829C>T	NP_001272331.1:p.Gln277Ter
NM_014336.4:c.946C>T	NP_055151.3:p.Gln316Ter
NM_001033054.3:c.757C>T	NP_001028226.1:p.Gln253Ter
NM_001033055.3:c.766C>T	NP_001028227.1:p.Gln256Ter
NM_001285399.3:c.910C>T	NP_001272328.1:p.Gln304Ter
NM_001285400.3:c.880C>T	NP_001272329.1:p.Gln294Ter
NM_001285401.3:c.874C>T	NP_001272330.1:p.Gln292Ter
NM_001285402.2:c.829C>T	NP_001272331.1:p.Gln277Ter
NM_001285403.3:c.*917C>T	NP_001272332.1:n.*917C>T
NM_014336.5:c.946C>T MANE Select	NP_055151.3:p.Gln316Ter
NM_001285403.4:c.*917C>T	NP_001272332.1:n.*917C>T