Canonical Allele Identifier: CA397394283

Gene: AIPL1

Linked Data

• gnomAD v4: 17-6425525-C-G
• MyVariant Identifiers: chr17:g.6328845C>G (hg19) ; chr17:g.6425525C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425525C>G , CM000679.2:g.6425525C>G	GRCh38
NC_000017.10:g.6328845C>G , CM000679.1:g.6328845C>G	GRCh37
NC_000017.9:g.6269569C>G	NCBI36
NG_008474.1:g.14675G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.1090G>C MANE Select	ENSP00000370521.3:p.Ala364Pro
ENST00000250087.9:c.901G>C	ENSP00000250087.5:p.Ala301Pro
ENST00000381128.2:c.*962G>C	ENSP00000370520.2:n.*962G>C
ENST00000381129.7:c.1090G>C	ENSP00000370521.3:p.Ala364Pro
ENST00000570466.5:c.1024G>C	ENSP00000461287.1:p.Ala342Pro
ENST00000570584.5:c.251+8394G>C
ENST00000574506.5:c.1054G>C	ENSP00000458456.1:p.Ala352Pro
ENST00000575265.5:c.*1061G>C	ENSP00000459673.1:n.*1061G>C
ENST00000576307.5:c.910G>C	ENSP00000459522.1:p.Ala304Pro
ENST00000576776.5:c.1018G>C	ENSP00000460827.1:p.Ala340Pro
ENST00000621374.4:c.*108G>C	ENSP00000481337.1:n.*108G>C
NM_001033054.2:c.901G>C	NP_001028226.1:p.Ala301Pro
NM_001033055.2:c.910G>C	NP_001028227.1:p.Ala304Pro
NM_001285399.2:c.1054G>C	NP_001272328.1:p.Ala352Pro
NM_001285400.2:c.1024G>C	NP_001272329.1:p.Ala342Pro
NM_001285401.2:c.1018G>C	NP_001272330.1:p.Ala340Pro
NM_001285402.1:c.973G>C	NP_001272331.1:p.Ala325Pro
NM_014336.4:c.1090G>C	NP_055151.3:p.Ala364Pro
NM_001033054.3:c.901G>C	NP_001028226.1:p.Ala301Pro
NM_001033055.3:c.910G>C	NP_001028227.1:p.Ala304Pro
NM_001285399.3:c.1054G>C	NP_001272328.1:p.Ala352Pro
NM_001285400.3:c.1024G>C	NP_001272329.1:p.Ala342Pro
NM_001285401.3:c.1018G>C	NP_001272330.1:p.Ala340Pro
NM_001285402.2:c.973G>C	NP_001272331.1:p.Ala325Pro
NM_001285403.3:c.*1061G>C	NP_001272332.1:n.*1061G>C
NM_014336.5:c.1090G>C MANE Select	NP_055151.3:p.Ala364Pro
NM_001285403.4:c.*1061G>C	NP_001272332.1:n.*1061G>C