Canonical Allele Identifier: CA397394195

Gene: AIPL1

Linked Data

• ClinVar Variation Id: 1349033
• ClinVar RCV Id: RCV002046738
• dbSNP Id: rs1911819341
• gnomAD v4: 17-6425479-C-G
• MyVariant Identifiers: chr17:g.6328799C>G (hg19) ; chr17:g.6425479C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425479C>G , CM000679.2:g.6425479C>G	GRCh38
NC_000017.10:g.6328799C>G , CM000679.1:g.6328799C>G	GRCh37
NC_000017.9:g.6269523C>G	NCBI36
NG_008474.1:g.14721G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000381129.8:c.1136G>C MANE Select	ENSP00000370521.3:p.Gly379Ala
ENST00000250087.9:c.947G>C	ENSP00000250087.5:p.Gly316Ala
ENST00000381128.2:c.*1008G>C	ENSP00000370520.2:n.*1008G>C
ENST00000381129.7:c.1136G>C	ENSP00000370521.3:p.Gly379Ala
ENST00000570466.5:c.1070G>C	ENSP00000461287.1:p.Gly357Ala
ENST00000570584.5:c.251+8440G>C
ENST00000574506.5:c.1100G>C	ENSP00000458456.1:p.Gly367Ala
ENST00000575265.5:c.*1107G>C	ENSP00000459673.1:n.*1107G>C
ENST00000576307.5:c.956G>C	ENSP00000459522.1:p.Gly319Ala
ENST00000576776.5:c.1064G>C	ENSP00000460827.1:p.Gly355Ala
ENST00000621374.4:c.*154G>C	ENSP00000481337.1:n.*154G>C
NM_001033054.2:c.947G>C	NP_001028226.1:p.Gly316Ala
NM_001033055.2:c.956G>C	NP_001028227.1:p.Gly319Ala
NM_001285399.2:c.1100G>C	NP_001272328.1:p.Gly367Ala
NM_001285400.2:c.1070G>C	NP_001272329.1:p.Gly357Ala
NM_001285401.2:c.1064G>C	NP_001272330.1:p.Gly355Ala
NM_001285402.1:c.1019G>C	NP_001272331.1:p.Gly340Ala
NM_014336.4:c.1136G>C	NP_055151.3:p.Gly379Ala
NM_001033054.3:c.947G>C	NP_001028226.1:p.Gly316Ala
NM_001033055.3:c.956G>C	NP_001028227.1:p.Gly319Ala
NM_001285399.3:c.1100G>C	NP_001272328.1:p.Gly367Ala
NM_001285400.3:c.1070G>C	NP_001272329.1:p.Gly357Ala
NM_001285401.3:c.1064G>C	NP_001272330.1:p.Gly355Ala
NM_001285402.2:c.1019G>C	NP_001272331.1:p.Gly340Ala
NM_001285403.3:c.*1107G>C	NP_001272332.1:n.*1107G>C
NM_014336.5:c.1136G>C MANE Select	NP_055151.3:p.Gly379Ala
NM_001285403.4:c.*1107G>C	NP_001272332.1:n.*1107G>C