Canonical Allele Identifier: CA397394507

Gene: AIPL1

Linked Data

• gnomAD v4: 17-6425638-A-G
• MyVariant Identifiers: chr17:g.6328958A>G (hg19) ; chr17:g.6425638A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425638A>G , CM000679.2:g.6425638A>G	GRCh38
NC_000017.10:g.6328958A>G , CM000679.1:g.6328958A>G	GRCh37
NC_000017.9:g.6269682A>G	NCBI36
NG_008474.1:g.14562T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.977T>C MANE Select	ENSP00000370521.3:p.Met326Thr
ENST00000250087.9:c.788T>C	ENSP00000250087.5:p.Met263Thr
ENST00000381128.2:c.*849T>C	ENSP00000370520.2:n.*849T>C
ENST00000381129.7:c.977T>C	ENSP00000370521.3:p.Met326Thr
ENST00000570466.5:c.911T>C	ENSP00000461287.1:p.Met304Thr
ENST00000570584.5:c.251+8281T>C
ENST00000574506.5:c.941T>C	ENSP00000458456.1:p.Met314Thr
ENST00000575265.5:c.*948T>C	ENSP00000459673.1:n.*948T>C
ENST00000576307.5:c.797T>C	ENSP00000459522.1:p.Met266Thr
ENST00000576776.5:c.905T>C	ENSP00000460827.1:p.Met302Thr
ENST00000621374.4:c.976T>C	ENSP00000481337.1:p.Cys326Arg
NM_001033054.2:c.788T>C	NP_001028226.1:p.Met263Thr
NM_001033055.2:c.797T>C	NP_001028227.1:p.Met266Thr
NM_001285399.2:c.941T>C	NP_001272328.1:p.Met314Thr
NM_001285400.2:c.911T>C	NP_001272329.1:p.Met304Thr
NM_001285401.2:c.905T>C	NP_001272330.1:p.Met302Thr
NM_001285402.1:c.860T>C	NP_001272331.1:p.Met287Thr
NM_014336.4:c.977T>C	NP_055151.3:p.Met326Thr
NM_001033054.3:c.788T>C	NP_001028226.1:p.Met263Thr
NM_001033055.3:c.797T>C	NP_001028227.1:p.Met266Thr
NM_001285399.3:c.941T>C	NP_001272328.1:p.Met314Thr
NM_001285400.3:c.911T>C	NP_001272329.1:p.Met304Thr
NM_001285401.3:c.905T>C	NP_001272330.1:p.Met302Thr
NM_001285402.2:c.860T>C	NP_001272331.1:p.Met287Thr
NM_001285403.3:c.*948T>C	NP_001272332.1:n.*948T>C
NM_014336.5:c.977T>C MANE Select	NP_055151.3:p.Met326Thr
NM_001285403.4:c.*948T>C	NP_001272332.1:n.*948T>C