Canonical Allele Identifier: CA397394361

Gene: AIPL1

Linked Data

• gnomAD v4: 17-6425567-G-A
• MyVariant Identifiers: chr17:g.6328887G>A (hg19) ; chr17:g.6425567G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425567G>A , CM000679.2:g.6425567G>A	GRCh38
NC_000017.10:g.6328887G>A , CM000679.1:g.6328887G>A	GRCh37
NC_000017.9:g.6269611G>A	NCBI36
NG_008474.1:g.14633C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000381129.8:c.1048C>T MANE Select	ENSP00000370521.3:p.Pro350Ser
ENST00000250087.9:c.859C>T	ENSP00000250087.5:p.Pro287Ser
ENST00000381128.2:c.*920C>T	ENSP00000370520.2:n.*920C>T
ENST00000381129.7:c.1048C>T	ENSP00000370521.3:p.Pro350Ser
ENST00000570466.5:c.982C>T	ENSP00000461287.1:p.Pro328Ser
ENST00000570584.5:c.251+8352C>T
ENST00000574506.5:c.1012C>T	ENSP00000458456.1:p.Pro338Ser
ENST00000575265.5:c.*1019C>T	ENSP00000459673.1:n.*1019C>T
ENST00000576307.5:c.868C>T	ENSP00000459522.1:p.Pro290Ser
ENST00000576776.5:c.976C>T	ENSP00000460827.1:p.Pro326Ser
ENST00000621374.4:c.*66C>T	ENSP00000481337.1:n.*66C>T
NM_001033054.2:c.859C>T	NP_001028226.1:p.Pro287Ser
NM_001033055.2:c.868C>T	NP_001028227.1:p.Pro290Ser
NM_001285399.2:c.1012C>T	NP_001272328.1:p.Pro338Ser
NM_001285400.2:c.982C>T	NP_001272329.1:p.Pro328Ser
NM_001285401.2:c.976C>T	NP_001272330.1:p.Pro326Ser
NM_001285402.1:c.931C>T	NP_001272331.1:p.Pro311Ser
NM_014336.4:c.1048C>T	NP_055151.3:p.Pro350Ser
NM_001033054.3:c.859C>T	NP_001028226.1:p.Pro287Ser
NM_001033055.3:c.868C>T	NP_001028227.1:p.Pro290Ser
NM_001285399.3:c.1012C>T	NP_001272328.1:p.Pro338Ser
NM_001285400.3:c.982C>T	NP_001272329.1:p.Pro328Ser
NM_001285401.3:c.976C>T	NP_001272330.1:p.Pro326Ser
NM_001285402.2:c.931C>T	NP_001272331.1:p.Pro311Ser
NM_001285403.3:c.*1019C>T	NP_001272332.1:n.*1019C>T
NM_014336.5:c.1048C>T MANE Select	NP_055151.3:p.Pro350Ser
NM_001285403.4:c.*1019C>T	NP_001272332.1:n.*1019C>T