Canonical Allele Identifier: CA227886

Gene: AIPL1

Linked Data

• ClinVar Variation Id: 65709
• ClinVar RCV Id: RCV000055939 ; RCV000086228
• dbSNP Id: rs62637010
• MyVariant Identifiers: chr17:g.6330254C>G (hg19) ; chr17:g.6426934C>G (hg38)
• PubMed: PMID:20301475

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6426934C>G , CM000679.2:g.6426934C>G	GRCh38
NC_000017.10:g.6330254C>G , CM000679.1:g.6330254C>G	GRCh37
NC_000017.9:g.6270978C>G	NCBI36
NG_008474.1:g.13266G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.589G>C MANE Select	ENSP00000370521.3:p.Ala197Pro
ENST00000250087.9:c.400G>C	ENSP00000250087.5:p.Ala134Pro
ENST00000381128.2:c.*461G>C	ENSP00000370520.2:n.*461G>C
ENST00000381129.7:c.589G>C	ENSP00000370521.3:p.Ala197Pro
ENST00000570466.5:c.523G>C	ENSP00000461287.1:p.Ala175Pro
ENST00000570584.5:c.251+6985G>C
ENST00000571740.5:c.565G>C	ENSP00000460134.1:p.Ala189Pro
ENST00000574506.5:c.553G>C	ENSP00000458456.1:p.Ala185Pro
ENST00000574913.1:c.601G>C	ENSP00000460672.1:p.Ala201Pro
ENST00000575265.5:c.589G>C	ENSP00000459673.1:p.Ala197Pro
ENST00000576307.5:c.409G>C	ENSP00000459522.1:p.Ala137Pro
ENST00000576776.5:c.589G>C	ENSP00000460827.1:p.Ala197Pro
ENST00000621374.4:c.589G>C	ENSP00000481337.1:p.Ala197Pro
NM_001033054.2:c.400G>C	NP_001028226.1:p.Ala134Pro
NM_001033055.2:c.409G>C	NP_001028227.1:p.Ala137Pro
NM_001285399.2:c.553G>C	NP_001272328.1:p.Ala185Pro
NM_001285400.2:c.523G>C	NP_001272329.1:p.Ala175Pro
NM_001285401.2:c.589G>C	NP_001272330.1:p.Ala197Pro
NM_001285402.1:c.472G>C	NP_001272331.1:p.Ala158Pro
NM_001285403.2:c.565G>C	NP_001272332.1:p.Ala189Pro
NM_014336.4:c.589G>C	NP_055151.3:p.Ala197Pro
NM_001033054.3:c.400G>C	NP_001028226.1:p.Ala134Pro
NM_001033055.3:c.409G>C	NP_001028227.1:p.Ala137Pro
NM_001285399.3:c.553G>C	NP_001272328.1:p.Ala185Pro
NM_001285400.3:c.523G>C	NP_001272329.1:p.Ala175Pro
NM_001285401.3:c.589G>C	NP_001272330.1:p.Ala197Pro
NM_001285402.2:c.472G>C	NP_001272331.1:p.Ala158Pro
NM_001285403.3:c.565G>C	NP_001272332.1:p.Ala189Pro
NM_014336.5:c.589G>C MANE Select	NP_055151.3:p.Ala197Pro
NM_001285403.4:c.565G>C	NP_001272332.1:p.Ala189Pro