Canonical Allele Identifier: CA10606970

Gene: AIPL1

Linked Data

• ClinVar Variation Id: 290983
• ClinVar RCV Id: RCV000306161
• dbSNP Id: rs886044608
• MyVariant Identifiers: chr17:g.6328834A>G (hg19) ; chr17:g.6425514A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425514A>G , CM000679.2:g.6425514A>G	GRCh38
NC_000017.10:g.6328834A>G , CM000679.1:g.6328834A>G	GRCh37
NC_000017.9:g.6269558A>G	NCBI36
NG_008474.1:g.14686T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.1101T>C MANE Select	ENSP00000370521.3:p.Pro367=
ENST00000250087.9:c.912T>C	ENSP00000250087.5:p.Pro304=
ENST00000381128.2:c.*973T>C	ENSP00000370520.2:n.*973T>C
ENST00000381129.7:c.1101T>C	ENSP00000370521.3:p.Pro367=
ENST00000570466.5:c.1035T>C	ENSP00000461287.1:p.Pro345=
ENST00000570584.5:c.251+8405T>C
ENST00000574506.5:c.1065T>C	ENSP00000458456.1:p.Pro355=
ENST00000575265.5:c.*1072T>C	ENSP00000459673.1:n.*1072T>C
ENST00000576307.5:c.921T>C	ENSP00000459522.1:p.Pro307=
ENST00000576776.5:c.1029T>C	ENSP00000460827.1:p.Pro343=
ENST00000621374.4:c.*119T>C	ENSP00000481337.1:n.*119T>C
NM_001033054.2:c.912T>C	NP_001028226.1:p.Pro304=
NM_001033055.2:c.921T>C	NP_001028227.1:p.Pro307=
NM_001285399.2:c.1065T>C	NP_001272328.1:p.Pro355=
NM_001285400.2:c.1035T>C	NP_001272329.1:p.Pro345=
NM_001285401.2:c.1029T>C	NP_001272330.1:p.Pro343=
NM_001285402.1:c.984T>C	NP_001272331.1:p.Pro328=
NM_014336.4:c.1101T>C	NP_055151.3:p.Pro367=
NM_001033054.3:c.912T>C	NP_001028226.1:p.Pro304=
NM_001033055.3:c.921T>C	NP_001028227.1:p.Pro307=
NM_001285399.3:c.1065T>C	NP_001272328.1:p.Pro355=
NM_001285400.3:c.1035T>C	NP_001272329.1:p.Pro345=
NM_001285401.3:c.1029T>C	NP_001272330.1:p.Pro343=
NM_001285402.2:c.984T>C	NP_001272331.1:p.Pro328=
NM_001285403.3:c.*1072T>C	NP_001272332.1:n.*1072T>C
NM_014336.5:c.1101T>C MANE Select	NP_055151.3:p.Pro367=
NM_001285403.4:c.*1072T>C	NP_001272332.1:n.*1072T>C