Canonical Allele Identifier: CA10650670

Gene: AIPL1

Linked Data

• ClinVar Variation Id: 324590
• ClinVar RCV Id: RCV000280028 ; RCV000351354 ; RCV000372318
• dbSNP Id: rs145706166
• gnomAD v2: 17-6327956-C-G
• gnomAD v3: 17-6424636-C-G
• gnomAD v4: 17-6424636-C-G
• MyVariant Identifiers: chr17:g.6327956C>G (hg19) ; chr17:g.6424636C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6424636C>G , CM000679.2:g.6424636C>G	GRCh38
NC_000017.10:g.6327956C>G , CM000679.1:g.6327956C>G	GRCh37
NC_000017.9:g.6268680C>G	NCBI36
NG_008474.1:g.15564G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.*824G>C MANE Select	ENSP00000370521.3:n.*824G>C
ENST00000250087.9:c.*824G>C	ENSP00000250087.5:n.*824G>C
ENST00000381128.2:c.*1851G>C	ENSP00000370520.2:n.*1851G>C
ENST00000381129.7:c.*824G>C	ENSP00000370521.3:n.*824G>C
ENST00000570584.5:c.251+9283G>C
ENST00000574506.5:c.*824G>C	ENSP00000458456.1:n.*824G>C
NM_001033054.2:c.*824G>C	NP_001028226.1:n.*824G>C
NM_001033055.2:c.*824G>C	NP_001028227.1:n.*824G>C
NM_001285399.2:c.*824G>C	NP_001272328.1:n.*824G>C
NM_001285400.2:c.*824G>C	NP_001272329.1:n.*824G>C
NM_001285401.2:c.*824G>C	NP_001272330.1:n.*824G>C
NM_001285402.1:c.*824G>C	NP_001272331.1:n.*824G>C
NM_014336.4:c.*824G>C	NP_055151.3:n.*824G>C
NM_001033054.3:c.*824G>C	NP_001028226.1:n.*824G>C
NM_001033055.3:c.*824G>C	NP_001028227.1:n.*824G>C
NM_001285399.3:c.*824G>C	NP_001272328.1:n.*824G>C
NM_001285400.3:c.*824G>C	NP_001272329.1:n.*824G>C
NM_001285401.3:c.*824G>C	NP_001272330.1:n.*824G>C
NM_001285402.2:c.*824G>C	NP_001272331.1:n.*824G>C
NM_014336.5:c.*824G>C MANE Select	NP_055151.3:n.*824G>C