Canonical Allele Identifier: CA397394300

Gene: AIPL1

Linked Data

• ClinVar Variation Id: 2010997
• ClinVar RCV Id: RCV002829164 ; RCV004529176
• dbSNP Id: rs1278686032
• gnomAD v2: 17-6328854-C-G
• gnomAD v3: 17-6425534-C-G
• gnomAD v4: 17-6425534-C-G
• MyVariant Identifiers: chr17:g.6328854C>G (hg19) ; chr17:g.6425534C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425534C>G , CM000679.2:g.6425534C>G	GRCh38
NC_000017.10:g.6328854C>G , CM000679.1:g.6328854C>G	GRCh37
NC_000017.9:g.6269578C>G	NCBI36
NG_008474.1:g.14666G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.1081G>C MANE Select	ENSP00000370521.3:p.Glu361Gln
ENST00000250087.9:c.892G>C	ENSP00000250087.5:p.Glu298Gln
ENST00000381128.2:c.*953G>C	ENSP00000370520.2:n.*953G>C
ENST00000381129.7:c.1081G>C	ENSP00000370521.3:p.Glu361Gln
ENST00000570466.5:c.1015G>C	ENSP00000461287.1:p.Glu339Gln
ENST00000570584.5:c.251+8385G>C
ENST00000574506.5:c.1045G>C	ENSP00000458456.1:p.Glu349Gln
ENST00000575265.5:c.*1052G>C	ENSP00000459673.1:n.*1052G>C
ENST00000576307.5:c.901G>C	ENSP00000459522.1:p.Glu301Gln
ENST00000576776.5:c.1009G>C	ENSP00000460827.1:p.Glu337Gln
ENST00000621374.4:c.*99G>C	ENSP00000481337.1:n.*99G>C
NM_001033054.2:c.892G>C	NP_001028226.1:p.Glu298Gln
NM_001033055.2:c.901G>C	NP_001028227.1:p.Glu301Gln
NM_001285399.2:c.1045G>C	NP_001272328.1:p.Glu349Gln
NM_001285400.2:c.1015G>C	NP_001272329.1:p.Glu339Gln
NM_001285401.2:c.1009G>C	NP_001272330.1:p.Glu337Gln
NM_001285402.1:c.964G>C	NP_001272331.1:p.Glu322Gln
NM_014336.4:c.1081G>C	NP_055151.3:p.Glu361Gln
NM_001033054.3:c.892G>C	NP_001028226.1:p.Glu298Gln
NM_001033055.3:c.901G>C	NP_001028227.1:p.Glu301Gln
NM_001285399.3:c.1045G>C	NP_001272328.1:p.Glu349Gln
NM_001285400.3:c.1015G>C	NP_001272329.1:p.Glu339Gln
NM_001285401.3:c.1009G>C	NP_001272330.1:p.Glu337Gln
NM_001285402.2:c.964G>C	NP_001272331.1:p.Glu322Gln
NM_001285403.3:c.*1052G>C	NP_001272332.1:n.*1052G>C
NM_014336.5:c.1081G>C MANE Select	NP_055151.3:p.Glu361Gln
NM_001285403.4:c.*1052G>C	NP_001272332.1:n.*1052G>C