Canonical Allele Identifier: CA8328325

Gene: AIPL1

Linked Data

• ClinVar Variation Id: 839264
• ClinVar RCV Id: RCV001040978
• dbSNP Id: rs753854367
• ExAC: 17:6328899 A / G
• gnomAD v2: 17-6328899-A-G
• gnomAD v3: 17-6425579-A-G
• gnomAD v4: 17-6425579-A-G
• MyVariant Identifiers: chr17:g.6328899A>G (hg19) ; chr17:g.6425579A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425579A>G , CM000679.2:g.6425579A>G	GRCh38
NC_000017.10:g.6328899A>G , CM000679.1:g.6328899A>G	GRCh37
NC_000017.9:g.6269623A>G	NCBI36
NG_008474.1:g.14621T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000381129.8:c.1036T>C MANE Select	ENSP00000370521.3:p.Ser346Pro
ENST00000250087.9:c.847T>C	ENSP00000250087.5:p.Ser283Pro
ENST00000381128.2:c.*908T>C	ENSP00000370520.2:n.*908T>C
ENST00000381129.7:c.1036T>C	ENSP00000370521.3:p.Ser346Pro
ENST00000570466.5:c.970T>C	ENSP00000461287.1:p.Ser324Pro
ENST00000570584.5:c.251+8340T>C
ENST00000574506.5:c.1000T>C	ENSP00000458456.1:p.Ser334Pro
ENST00000575265.5:c.*1007T>C	ENSP00000459673.1:n.*1007T>C
ENST00000576307.5:c.856T>C	ENSP00000459522.1:p.Ser286Pro
ENST00000576776.5:c.964T>C	ENSP00000460827.1:p.Ser322Pro
ENST00000621374.4:c.*54T>C	ENSP00000481337.1:n.*54T>C
NM_001033054.2:c.847T>C	NP_001028226.1:p.Ser283Pro
NM_001033055.2:c.856T>C	NP_001028227.1:p.Ser286Pro
NM_001285399.2:c.1000T>C	NP_001272328.1:p.Ser334Pro
NM_001285400.2:c.970T>C	NP_001272329.1:p.Ser324Pro
NM_001285401.2:c.964T>C	NP_001272330.1:p.Ser322Pro
NM_001285402.1:c.919T>C	NP_001272331.1:p.Ser307Pro
NM_014336.4:c.1036T>C	NP_055151.3:p.Ser346Pro
NM_001033054.3:c.847T>C	NP_001028226.1:p.Ser283Pro
NM_001033055.3:c.856T>C	NP_001028227.1:p.Ser286Pro
NM_001285399.3:c.1000T>C	NP_001272328.1:p.Ser334Pro
NM_001285400.3:c.970T>C	NP_001272329.1:p.Ser324Pro
NM_001285401.3:c.964T>C	NP_001272330.1:p.Ser322Pro
NM_001285402.2:c.919T>C	NP_001272331.1:p.Ser307Pro
NM_001285403.3:c.*1007T>C	NP_001272332.1:n.*1007T>C
NM_014336.5:c.1036T>C MANE Select	NP_055151.3:p.Ser346Pro
NM_001285403.4:c.*1007T>C	NP_001272332.1:n.*1007T>C