Canonical Allele Identifier: CA8328309

Gene: AIPL1

Linked Data

• ClinVar Variation Id: 324611
• ClinVar RCV Id: RCV002487427 ; RCV002523002
• dbSNP Id: rs139079107
• ExAC: 17:6328827 G / A
• gnomAD v2: 17-6328827-G-A
• gnomAD v3: 17-6425507-G-A
• gnomAD v4: 17-6425507-G-A
• MyVariant Identifiers: chr17:g.6328827G>A (hg19) ; chr17:g.6425507G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425507G>A , CM000679.2:g.6425507G>A	GRCh38
NC_000017.10:g.6328827G>A , CM000679.1:g.6328827G>A	GRCh37
NC_000017.9:g.6269551G>A	NCBI36
NG_008474.1:g.14693C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000381129.8:c.1108C>T MANE Select	ENSP00000370521.3:p.Pro370Ser
ENST00000250087.9:c.919C>T	ENSP00000250087.5:p.Pro307Ser
ENST00000381128.2:c.*980C>T	ENSP00000370520.2:n.*980C>T
ENST00000381129.7:c.1108C>T	ENSP00000370521.3:p.Pro370Ser
ENST00000570466.5:c.1042C>T	ENSP00000461287.1:p.Pro348Ser
ENST00000570584.5:c.251+8412C>T
ENST00000574506.5:c.1072C>T	ENSP00000458456.1:p.Pro358Ser
ENST00000575265.5:c.*1079C>T	ENSP00000459673.1:n.*1079C>T
ENST00000576307.5:c.928C>T	ENSP00000459522.1:p.Pro310Ser
ENST00000576776.5:c.1036C>T	ENSP00000460827.1:p.Pro346Ser
ENST00000621374.4:c.*126C>T	ENSP00000481337.1:n.*126C>T
NM_001033054.2:c.919C>T	NP_001028226.1:p.Pro307Ser
NM_001033055.2:c.928C>T	NP_001028227.1:p.Pro310Ser
NM_001285399.2:c.1072C>T	NP_001272328.1:p.Pro358Ser
NM_001285400.2:c.1042C>T	NP_001272329.1:p.Pro348Ser
NM_001285401.2:c.1036C>T	NP_001272330.1:p.Pro346Ser
NM_001285402.1:c.991C>T	NP_001272331.1:p.Pro331Ser
NM_014336.4:c.1108C>T	NP_055151.3:p.Pro370Ser
NM_001033054.3:c.919C>T	NP_001028226.1:p.Pro307Ser
NM_001033055.3:c.928C>T	NP_001028227.1:p.Pro310Ser
NM_001285399.3:c.1072C>T	NP_001272328.1:p.Pro358Ser
NM_001285400.3:c.1042C>T	NP_001272329.1:p.Pro348Ser
NM_001285401.3:c.1036C>T	NP_001272330.1:p.Pro346Ser
NM_001285402.2:c.991C>T	NP_001272331.1:p.Pro331Ser
NM_001285403.3:c.*1079C>T	NP_001272332.1:n.*1079C>T
NM_014336.5:c.1108C>T MANE Select	NP_055151.3:p.Pro370Ser
NM_001285403.4:c.*1079C>T	NP_001272332.1:n.*1079C>T