Canonical Allele Identifier: CA8328328

Gene: AIPL1

Linked Data

• ClinVar Variation Id: 2085478
• ClinVar RCV Id: RCV002996293 ; RCV003418703
• dbSNP Id: rs750182531
• ExAC: 17:6328911 G / A
• gnomAD v2: 17-6328911-G-A
• gnomAD v4: 17-6425591-G-A
• MyVariant Identifiers: chr17:g.6328911G>A (hg19) ; chr17:g.6425591G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425591G>A , CM000679.2:g.6425591G>A	GRCh38
NC_000017.10:g.6328911G>A , CM000679.1:g.6328911G>A	GRCh37
NC_000017.9:g.6269635G>A	NCBI36
NG_008474.1:g.14609C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.1024C>T MANE Select	ENSP00000370521.3:p.Pro342Ser
ENST00000250087.9:c.835C>T	ENSP00000250087.5:p.Pro279Ser
ENST00000381128.2:c.*896C>T	ENSP00000370520.2:n.*896C>T
ENST00000381129.7:c.1024C>T	ENSP00000370521.3:p.Pro342Ser
ENST00000570466.5:c.958C>T	ENSP00000461287.1:p.Pro320Ser
ENST00000570584.5:c.251+8328C>T
ENST00000574506.5:c.988C>T	ENSP00000458456.1:p.Pro330Ser
ENST00000575265.5:c.*995C>T	ENSP00000459673.1:n.*995C>T
ENST00000576307.5:c.844C>T	ENSP00000459522.1:p.Pro282Ser
ENST00000576776.5:c.952C>T	ENSP00000460827.1:p.Pro318Ser
ENST00000621374.4:c.*42C>T	ENSP00000481337.1:n.*42C>T
NM_001033054.2:c.835C>T	NP_001028226.1:p.Pro279Ser
NM_001033055.2:c.844C>T	NP_001028227.1:p.Pro282Ser
NM_001285399.2:c.988C>T	NP_001272328.1:p.Pro330Ser
NM_001285400.2:c.958C>T	NP_001272329.1:p.Pro320Ser
NM_001285401.2:c.952C>T	NP_001272330.1:p.Pro318Ser
NM_001285402.1:c.907C>T	NP_001272331.1:p.Pro303Ser
NM_014336.4:c.1024C>T	NP_055151.3:p.Pro342Ser
NM_001033054.3:c.835C>T	NP_001028226.1:p.Pro279Ser
NM_001033055.3:c.844C>T	NP_001028227.1:p.Pro282Ser
NM_001285399.3:c.988C>T	NP_001272328.1:p.Pro330Ser
NM_001285400.3:c.958C>T	NP_001272329.1:p.Pro320Ser
NM_001285401.3:c.952C>T	NP_001272330.1:p.Pro318Ser
NM_001285402.2:c.907C>T	NP_001272331.1:p.Pro303Ser
NM_001285403.3:c.*995C>T	NP_001272332.1:n.*995C>T
NM_014336.5:c.1024C>T MANE Select	NP_055151.3:p.Pro342Ser
NM_001285403.4:c.*995C>T	NP_001272332.1:n.*995C>T