Canonical Allele Identifier: CA397394379

Gene: AIPL1

Linked Data

• gnomAD v4: 17-6425575-G-C
• COSMIC: COSM5758416
• MyVariant Identifiers: chr17:g.6328895G>C (hg19) ; chr17:g.6425575G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425575G>C , CM000679.2:g.6425575G>C	GRCh38
NC_000017.10:g.6328895G>C , CM000679.1:g.6328895G>C	GRCh37
NC_000017.9:g.6269619G>C	NCBI36
NG_008474.1:g.14625C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000381129.8:c.1040C>G MANE Select	ENSP00000370521.3:p.Ser347Cys
ENST00000250087.9:c.851C>G	ENSP00000250087.5:p.Ser284Cys
ENST00000381128.2:c.*912C>G	ENSP00000370520.2:n.*912C>G
ENST00000381129.7:c.1040C>G	ENSP00000370521.3:p.Ser347Cys
ENST00000570466.5:c.974C>G	ENSP00000461287.1:p.Ser325Cys
ENST00000570584.5:c.251+8344C>G
ENST00000574506.5:c.1004C>G	ENSP00000458456.1:p.Ser335Cys
ENST00000575265.5:c.*1011C>G	ENSP00000459673.1:n.*1011C>G
ENST00000576307.5:c.860C>G	ENSP00000459522.1:p.Ser287Cys
ENST00000576776.5:c.968C>G	ENSP00000460827.1:p.Ser323Cys
ENST00000621374.4:c.*58C>G	ENSP00000481337.1:n.*58C>G
NM_001033054.2:c.851C>G	NP_001028226.1:p.Ser284Cys
NM_001033055.2:c.860C>G	NP_001028227.1:p.Ser287Cys
NM_001285399.2:c.1004C>G	NP_001272328.1:p.Ser335Cys
NM_001285400.2:c.974C>G	NP_001272329.1:p.Ser325Cys
NM_001285401.2:c.968C>G	NP_001272330.1:p.Ser323Cys
NM_001285402.1:c.923C>G	NP_001272331.1:p.Ser308Cys
NM_014336.4:c.1040C>G	NP_055151.3:p.Ser347Cys
NM_001033054.3:c.851C>G	NP_001028226.1:p.Ser284Cys
NM_001033055.3:c.860C>G	NP_001028227.1:p.Ser287Cys
NM_001285399.3:c.1004C>G	NP_001272328.1:p.Ser335Cys
NM_001285400.3:c.974C>G	NP_001272329.1:p.Ser325Cys
NM_001285401.3:c.968C>G	NP_001272330.1:p.Ser323Cys
NM_001285402.2:c.923C>G	NP_001272331.1:p.Ser308Cys
NM_001285403.3:c.*1011C>G	NP_001272332.1:n.*1011C>G
NM_014336.5:c.1040C>G MANE Select	NP_055151.3:p.Ser347Cys
NM_001285403.4:c.*1011C>G	NP_001272332.1:n.*1011C>G