Canonical Allele Identifier: CA397394353

Gene: AIPL1

Linked Data

• MyVariant Identifiers: chr17:g.6328881C>G (hg19) ; chr17:g.6425561C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425561C>G , CM000679.2:g.6425561C>G	GRCh38
NC_000017.10:g.6328881C>G , CM000679.1:g.6328881C>G	GRCh37
NC_000017.9:g.6269605C>G	NCBI36
NG_008474.1:g.14639G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000381129.8:c.1054G>C MANE Select	ENSP00000370521.3:p.Ala352Pro
ENST00000250087.9:c.865G>C	ENSP00000250087.5:p.Ala289Pro
ENST00000381128.2:c.*926G>C	ENSP00000370520.2:n.*926G>C
ENST00000381129.7:c.1054G>C	ENSP00000370521.3:p.Ala352Pro
ENST00000570466.5:c.988G>C	ENSP00000461287.1:p.Ala330Pro
ENST00000570584.5:c.251+8358G>C
ENST00000574506.5:c.1018G>C	ENSP00000458456.1:p.Ala340Pro
ENST00000575265.5:c.*1025G>C	ENSP00000459673.1:n.*1025G>C
ENST00000576307.5:c.874G>C	ENSP00000459522.1:p.Ala292Pro
ENST00000576776.5:c.982G>C	ENSP00000460827.1:p.Ala328Pro
ENST00000621374.4:c.*72G>C	ENSP00000481337.1:n.*72G>C
NM_001033054.2:c.865G>C	NP_001028226.1:p.Ala289Pro
NM_001033055.2:c.874G>C	NP_001028227.1:p.Ala292Pro
NM_001285399.2:c.1018G>C	NP_001272328.1:p.Ala340Pro
NM_001285400.2:c.988G>C	NP_001272329.1:p.Ala330Pro
NM_001285401.2:c.982G>C	NP_001272330.1:p.Ala328Pro
NM_001285402.1:c.937G>C	NP_001272331.1:p.Ala313Pro
NM_014336.4:c.1054G>C	NP_055151.3:p.Ala352Pro
NM_001033054.3:c.865G>C	NP_001028226.1:p.Ala289Pro
NM_001033055.3:c.874G>C	NP_001028227.1:p.Ala292Pro
NM_001285399.3:c.1018G>C	NP_001272328.1:p.Ala340Pro
NM_001285400.3:c.988G>C	NP_001272329.1:p.Ala330Pro
NM_001285401.3:c.982G>C	NP_001272330.1:p.Ala328Pro
NM_001285402.2:c.937G>C	NP_001272331.1:p.Ala313Pro
NM_001285403.3:c.*1025G>C	NP_001272332.1:n.*1025G>C
NM_014336.5:c.1054G>C MANE Select	NP_055151.3:p.Ala352Pro
NM_001285403.4:c.*1025G>C	NP_001272332.1:n.*1025G>C