Canonical Allele Identifier: CA8328414

Gene: AIPL1

Linked Data

• ClinVar Variation Id: 324614
• ClinVar RCV Id: RCV000332251 ; RCV000385713 ; RCV000981801 ; RCV001075005 ; RCV003456394
• dbSNP Id: rs138585919
• ExAC: 17:6329982 T / G
• gnomAD v2: 17-6329982-T-G
• gnomAD v3: 17-6426662-T-G
• gnomAD v4: 17-6426662-T-G
• MyVariant Identifiers: chr17:g.6329982T>G (hg19) ; chr17:g.6426662T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6426662T>G , CM000679.2:g.6426662T>G	GRCh38
NC_000017.10:g.6329982T>G , CM000679.1:g.6329982T>G	GRCh37
NC_000017.9:g.6270706T>G	NCBI36
NG_008474.1:g.13538A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.737A>C MANE Select	ENSP00000370521.3:p.Tyr246Ser
ENST00000250087.9:c.548A>C	ENSP00000250087.5:p.Tyr183Ser
ENST00000381128.2:c.*609A>C	ENSP00000370520.2:n.*609A>C
ENST00000381129.7:c.737A>C	ENSP00000370521.3:p.Tyr246Ser
ENST00000570466.5:c.671A>C	ENSP00000461287.1:p.Tyr224Ser
ENST00000570584.5:c.251+7257A>C
ENST00000571740.5:c.713A>C	ENSP00000460134.1:p.Tyr238Ser
ENST00000574506.5:c.701A>C	ENSP00000458456.1:p.Tyr234Ser
ENST00000575265.5:c.737A>C	ENSP00000459673.1:p.Tyr246Ser
ENST00000576307.5:c.557A>C	ENSP00000459522.1:p.Tyr186Ser
ENST00000576776.5:c.665A>C	ENSP00000460827.1:p.Tyr222Ser
ENST00000621374.4:c.737A>C	ENSP00000481337.1:p.Tyr246Ser
NM_001033054.2:c.548A>C	NP_001028226.1:p.Tyr183Ser
NM_001033055.2:c.557A>C	NP_001028227.1:p.Tyr186Ser
NM_001285399.2:c.701A>C	NP_001272328.1:p.Tyr234Ser
NM_001285400.2:c.671A>C	NP_001272329.1:p.Tyr224Ser
NM_001285401.2:c.665A>C	NP_001272330.1:p.Tyr222Ser
NM_001285402.1:c.620A>C	NP_001272331.1:p.Tyr207Ser
NM_001285403.2:c.713A>C	NP_001272332.1:p.Tyr238Ser
NM_014336.4:c.737A>C	NP_055151.3:p.Tyr246Ser
NM_001033054.3:c.548A>C	NP_001028226.1:p.Tyr183Ser
NM_001033055.3:c.557A>C	NP_001028227.1:p.Tyr186Ser
NM_001285399.3:c.701A>C	NP_001272328.1:p.Tyr234Ser
NM_001285400.3:c.671A>C	NP_001272329.1:p.Tyr224Ser
NM_001285401.3:c.665A>C	NP_001272330.1:p.Tyr222Ser
NM_001285402.2:c.620A>C	NP_001272331.1:p.Tyr207Ser
NM_001285403.3:c.713A>C	NP_001272332.1:p.Tyr238Ser
NM_014336.5:c.737A>C MANE Select	NP_055151.3:p.Tyr246Ser
NM_001285403.4:c.713A>C	NP_001272332.1:p.Tyr238Ser