Canonical Allele Identifier: CA8328347

Gene: AIPL1

Linked Data

• dbSNP Id: rs751257110
• ExAC: 17:6328976 C / T
• gnomAD v2: 17-6328976-C-T
• gnomAD v4: 17-6425656-C-T
• MyVariant Identifiers: chr17:g.6328976C>T (hg19) ; chr17:g.6425656C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425656C>T , CM000679.2:g.6425656C>T	GRCh38
NC_000017.10:g.6328976C>T , CM000679.1:g.6328976C>T	GRCh37
NC_000017.9:g.6269700C>T	NCBI36
NG_008474.1:g.14544G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.959G>A MANE Select	ENSP00000370521.3:p.Arg320Gln
ENST00000250087.9:c.770G>A	ENSP00000250087.5:p.Arg257Gln
ENST00000381128.2:c.*831G>A	ENSP00000370520.2:n.*831G>A
ENST00000381129.7:c.959G>A	ENSP00000370521.3:p.Arg320Gln
ENST00000570466.5:c.893G>A	ENSP00000461287.1:p.Arg298Gln
ENST00000570584.5:c.251+8263G>A
ENST00000574506.5:c.923G>A	ENSP00000458456.1:p.Arg308Gln
ENST00000575265.5:c.*930G>A	ENSP00000459673.1:n.*930G>A
ENST00000576307.5:c.779G>A	ENSP00000459522.1:p.Arg260Gln
ENST00000576776.5:c.887G>A	ENSP00000460827.1:p.Arg296Gln
ENST00000621374.4:c.958G>A	ENSP00000481337.1:p.Gly320Ser
NM_001033054.2:c.770G>A	NP_001028226.1:p.Arg257Gln
NM_001033055.2:c.779G>A	NP_001028227.1:p.Arg260Gln
NM_001285399.2:c.923G>A	NP_001272328.1:p.Arg308Gln
NM_001285400.2:c.893G>A	NP_001272329.1:p.Arg298Gln
NM_001285401.2:c.887G>A	NP_001272330.1:p.Arg296Gln
NM_001285402.1:c.842G>A	NP_001272331.1:p.Arg281Gln
NM_014336.4:c.959G>A	NP_055151.3:p.Arg320Gln
NM_001033054.3:c.770G>A	NP_001028226.1:p.Arg257Gln
NM_001033055.3:c.779G>A	NP_001028227.1:p.Arg260Gln
NM_001285399.3:c.923G>A	NP_001272328.1:p.Arg308Gln
NM_001285400.3:c.893G>A	NP_001272329.1:p.Arg298Gln
NM_001285401.3:c.887G>A	NP_001272330.1:p.Arg296Gln
NM_001285402.2:c.842G>A	NP_001272331.1:p.Arg281Gln
NM_001285403.3:c.*930G>A	NP_001272332.1:n.*930G>A
NM_014336.5:c.959G>A MANE Select	NP_055151.3:p.Arg320Gln
NM_001285403.4:c.*930G>A	NP_001272332.1:n.*930G>A