Canonical Allele Identifier: CA2245347516

Gene: AIPL1

Linked Data

• dbSNP Id: rs1911974430
• gnomAD v4: 17-6426537-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6426537C>T , CM000679.2:g.6426537C>T	GRCh38
NC_000017.10:g.6329857C>T , CM000679.1:g.6329857C>T	GRCh37
NC_000017.9:g.6270581C>T	NCBI36
NG_008474.1:g.13663G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.784+78G>A MANE Select	ENSP00000370521.3:n.784+78G>A
ENST00000250087.9:c.595+78G>A	ENSP00000250087.5:n.595+78G>A
ENST00000381128.2:c.*656+78G>A	ENSP00000370520.2:n.*656+78G>A
ENST00000381129.7:c.784+78G>A	ENSP00000370521.3:n.784+78G>A
ENST00000570466.5:c.718+78G>A	ENSP00000461287.1:n.718+78G>A
ENST00000570584.5:c.251+7382G>A
ENST00000571740.5:c.*49G>A	ENSP00000460134.1:n.*49G>A
ENST00000574506.5:c.748+78G>A	ENSP00000458456.1:n.748+78G>A
ENST00000575265.5:c.*49G>A	ENSP00000459673.1:n.*49G>A
ENST00000576307.5:c.604+78G>A	ENSP00000459522.1:n.604+78G>A
ENST00000576776.5:c.712+78G>A	ENSP00000460827.1:n.712+78G>A
ENST00000621374.4:c.784+78G>A	ENSP00000481337.1:n.784+78G>A
NM_001033054.2:c.595+78G>A	NP_001028226.1:n.595+78G>A
NM_001033055.2:c.604+78G>A	NP_001028227.1:n.604+78G>A
NM_001285399.2:c.748+78G>A	NP_001272328.1:n.748+78G>A
NM_001285400.2:c.718+78G>A	NP_001272329.1:n.718+78G>A
NM_001285401.2:c.712+78G>A	NP_001272330.1:n.712+78G>A
NM_001285402.1:c.667+78G>A	NP_001272331.1:n.667+78G>A
NM_001285403.2:c.*49G>A	NP_001272332.1:n.*49G>A
NM_014336.4:c.784+78G>A	NP_055151.3:n.784+78G>A
NM_001033054.3:c.595+78G>A	NP_001028226.1:n.595+78G>A
NM_001033055.3:c.604+78G>A	NP_001028227.1:n.604+78G>A
NM_001285399.3:c.748+78G>A	NP_001272328.1:n.748+78G>A
NM_001285400.3:c.718+78G>A	NP_001272329.1:n.718+78G>A
NM_001285401.3:c.712+78G>A	NP_001272330.1:n.712+78G>A
NM_001285402.2:c.667+78G>A	NP_001272331.1:n.667+78G>A
NM_001285403.3:c.*49G>A	NP_001272332.1:n.*49G>A
NM_014336.5:c.784+78G>A MANE Select	NP_055151.3:n.784+78G>A
NM_001285403.4:c.*49G>A	NP_001272332.1:n.*49G>A