Canonical Allele Identifier: CA397394553

Gene: AIPL1

Linked Data

• dbSNP Id: rs1445697118
• gnomAD v3: 17-6425657-G-C
• gnomAD v4: 17-6425657-G-C
• MyVariant Identifiers: chr17:g.6328977G>C (hg19) ; chr17:g.6425657G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425657G>C , CM000679.2:g.6425657G>C	GRCh38
NC_000017.10:g.6328977G>C , CM000679.1:g.6328977G>C	GRCh37
NC_000017.9:g.6269701G>C	NCBI36
NG_008474.1:g.14543C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.958C>G MANE Select	ENSP00000370521.3:p.Arg320Gly
ENST00000250087.9:c.769C>G	ENSP00000250087.5:p.Arg257Gly
ENST00000381128.2:c.*830C>G	ENSP00000370520.2:n.*830C>G
ENST00000381129.7:c.958C>G	ENSP00000370521.3:p.Arg320Gly
ENST00000570466.5:c.892C>G	ENSP00000461287.1:p.Arg298Gly
ENST00000570584.5:c.251+8262C>G
ENST00000574506.5:c.922C>G	ENSP00000458456.1:p.Arg308Gly
ENST00000575265.5:c.*929C>G	ENSP00000459673.1:n.*929C>G
ENST00000576307.5:c.778C>G	ENSP00000459522.1:p.Arg260Gly
ENST00000576776.5:c.886C>G	ENSP00000460827.1:p.Arg296Gly
ENST00000621374.4:c.957C>G	ENSP00000481337.1:p.Ser319Arg
NM_001033054.2:c.769C>G	NP_001028226.1:p.Arg257Gly
NM_001033055.2:c.778C>G	NP_001028227.1:p.Arg260Gly
NM_001285399.2:c.922C>G	NP_001272328.1:p.Arg308Gly
NM_001285400.2:c.892C>G	NP_001272329.1:p.Arg298Gly
NM_001285401.2:c.886C>G	NP_001272330.1:p.Arg296Gly
NM_001285402.1:c.841C>G	NP_001272331.1:p.Arg281Gly
NM_014336.4:c.958C>G	NP_055151.3:p.Arg320Gly
NM_001033054.3:c.769C>G	NP_001028226.1:p.Arg257Gly
NM_001033055.3:c.778C>G	NP_001028227.1:p.Arg260Gly
NM_001285399.3:c.922C>G	NP_001272328.1:p.Arg308Gly
NM_001285400.3:c.892C>G	NP_001272329.1:p.Arg298Gly
NM_001285401.3:c.886C>G	NP_001272330.1:p.Arg296Gly
NM_001285402.2:c.841C>G	NP_001272331.1:p.Arg281Gly
NM_001285403.3:c.*929C>G	NP_001272332.1:n.*929C>G
NM_014336.5:c.958C>G MANE Select	NP_055151.3:p.Arg320Gly
NM_001285403.4:c.*929C>G	NP_001272332.1:n.*929C>G