Canonical Allele Identifier: CA10640215

Gene: AIPL1

Linked Data

• ClinVar Variation Id: 324570
• ClinVar RCV Id: RCV000296016 ; RCV000348629 ; RCV000387971
• dbSNP Id: rs181055698
• gnomAD v2: 17-6327230-T-G
• gnomAD v3: 17-6423910-T-G
• gnomAD v4: 17-6423910-T-G
• MyVariant Identifiers: chr17:g.6327230T>G (hg19) ; chr17:g.6423910T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6423910T>G , CM000679.2:g.6423910T>G	GRCh38
NC_000017.10:g.6327230T>G , CM000679.1:g.6327230T>G	GRCh37
NC_000017.9:g.6267954T>G	NCBI36
NG_008474.1:g.16290A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.*1550A>C MANE Select	ENSP00000370521.3:n.*1550A>C
ENST00000250087.9:c.*1550A>C	ENSP00000250087.5:n.*1550A>C
ENST00000381128.2:c.*2577A>C	ENSP00000370520.2:n.*2577A>C
ENST00000381129.7:c.*1550A>C	ENSP00000370521.3:n.*1550A>C
ENST00000570584.5:c.251+10009A>C
NM_001033054.2:c.*1550A>C	NP_001028226.1:n.*1550A>C
NM_001033055.2:c.*1550A>C	NP_001028227.1:n.*1550A>C
NM_001285399.2:c.*1550A>C	NP_001272328.1:n.*1550A>C
NM_001285400.2:c.*1550A>C	NP_001272329.1:n.*1550A>C
NM_001285401.2:c.*1550A>C	NP_001272330.1:n.*1550A>C
NM_001285402.1:c.*1550A>C	NP_001272331.1:n.*1550A>C
NM_014336.4:c.*1550A>C	NP_055151.3:n.*1550A>C
NM_001033054.3:c.*1550A>C	NP_001028226.1:n.*1550A>C
NM_001033055.3:c.*1550A>C	NP_001028227.1:n.*1550A>C
NM_001285399.3:c.*1550A>C	NP_001272328.1:n.*1550A>C
NM_001285400.3:c.*1550A>C	NP_001272329.1:n.*1550A>C
NM_001285401.3:c.*1550A>C	NP_001272330.1:n.*1550A>C
NM_001285402.2:c.*1550A>C	NP_001272331.1:n.*1550A>C
NM_014336.5:c.*1550A>C MANE Select	NP_055151.3:n.*1550A>C