Canonical Allele Identifier: CA8328303

Gene: AIPL1

Linked Data

• dbSNP Id: rs777796745
• ExAC: 17:6328793 G / C
• gnomAD v2: 17-6328793-G-C
• gnomAD v3: 17-6425473-G-C
• gnomAD v4: 17-6425473-G-C
• MyVariant Identifiers: chr17:g.6328793G>C (hg19) ; chr17:g.6425473G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425473G>C , CM000679.2:g.6425473G>C	GRCh38
NC_000017.10:g.6328793G>C , CM000679.1:g.6328793G>C	GRCh37
NC_000017.9:g.6269517G>C	NCBI36
NG_008474.1:g.14727C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000381129.8:c.1142C>G MANE Select	ENSP00000370521.3:p.Ser381Trp
ENST00000250087.9:c.953C>G	ENSP00000250087.5:p.Ser318Trp
ENST00000381128.2:c.*1014C>G	ENSP00000370520.2:n.*1014C>G
ENST00000381129.7:c.1142C>G	ENSP00000370521.3:p.Ser381Trp
ENST00000570466.5:c.1076C>G	ENSP00000461287.1:p.Ser359Trp
ENST00000570584.5:c.251+8446C>G
ENST00000574506.5:c.1106C>G	ENSP00000458456.1:p.Ser369Trp
ENST00000575265.5:c.*1113C>G	ENSP00000459673.1:n.*1113C>G
ENST00000576307.5:c.962C>G	ENSP00000459522.1:p.Ser321Trp
ENST00000576776.5:c.1070C>G	ENSP00000460827.1:p.Ser357Trp
ENST00000621374.4:c.*160C>G	ENSP00000481337.1:n.*160C>G
NM_001033054.2:c.953C>G	NP_001028226.1:p.Ser318Trp
NM_001033055.2:c.962C>G	NP_001028227.1:p.Ser321Trp
NM_001285399.2:c.1106C>G	NP_001272328.1:p.Ser369Trp
NM_001285400.2:c.1076C>G	NP_001272329.1:p.Ser359Trp
NM_001285401.2:c.1070C>G	NP_001272330.1:p.Ser357Trp
NM_001285402.1:c.1025C>G	NP_001272331.1:p.Ser342Trp
NM_014336.4:c.1142C>G	NP_055151.3:p.Ser381Trp
NM_001033054.3:c.953C>G	NP_001028226.1:p.Ser318Trp
NM_001033055.3:c.962C>G	NP_001028227.1:p.Ser321Trp
NM_001285399.3:c.1106C>G	NP_001272328.1:p.Ser369Trp
NM_001285400.3:c.1076C>G	NP_001272329.1:p.Ser359Trp
NM_001285401.3:c.1070C>G	NP_001272330.1:p.Ser357Trp
NM_001285402.2:c.1025C>G	NP_001272331.1:p.Ser342Trp
NM_001285403.3:c.*1113C>G	NP_001272332.1:n.*1113C>G
NM_014336.5:c.1142C>G MANE Select	NP_055151.3:p.Ser381Trp
NM_001285403.4:c.*1113C>G	NP_001272332.1:n.*1113C>G