Canonical Allele Identifier: CA497687368

Gene: AIPL1

Linked Data

• dbSNP Id: rs1597325205
• MyVariant Identifiers: chr17:g.6328909T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425589T>G , CM000679.2:g.6425589T>G	GRCh38
NC_000017.10:g.6328909T>G , CM000679.1:g.6328909T>G	GRCh37
NC_000017.9:g.6269633T>G	NCBI36
NG_008474.1:g.14611A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.1026A>C MANE Select	ENSP00000370521.3:p.Pro342=
ENST00000250087.9:c.837A>C	ENSP00000250087.5:p.Pro279=
ENST00000381128.2:c.*898A>C	ENSP00000370520.2:n.*898A>C
ENST00000381129.7:c.1026A>C	ENSP00000370521.3:p.Pro342=
ENST00000570466.5:c.960A>C	ENSP00000461287.1:p.Pro320=
ENST00000570584.5:c.251+8330A>C
ENST00000574506.5:c.990A>C	ENSP00000458456.1:p.Pro330=
ENST00000575265.5:c.*997A>C	ENSP00000459673.1:n.*997A>C
ENST00000576307.5:c.846A>C	ENSP00000459522.1:p.Pro282=
ENST00000576776.5:c.954A>C	ENSP00000460827.1:p.Pro318=
ENST00000621374.4:c.*44A>C	ENSP00000481337.1:n.*44A>C
NM_001033054.2:c.837A>C	NP_001028226.1:p.Pro279=
NM_001033055.2:c.846A>C	NP_001028227.1:p.Pro282=
NM_001285399.2:c.990A>C	NP_001272328.1:p.Pro330=
NM_001285400.2:c.960A>C	NP_001272329.1:p.Pro320=
NM_001285401.2:c.954A>C	NP_001272330.1:p.Pro318=
NM_001285402.1:c.909A>C	NP_001272331.1:p.Pro303=
NM_014336.4:c.1026A>C	NP_055151.3:p.Pro342=
NM_001033054.3:c.837A>C	NP_001028226.1:p.Pro279=
NM_001033055.3:c.846A>C	NP_001028227.1:p.Pro282=
NM_001285399.3:c.990A>C	NP_001272328.1:p.Pro330=
NM_001285400.3:c.960A>C	NP_001272329.1:p.Pro320=
NM_001285401.3:c.954A>C	NP_001272330.1:p.Pro318=
NM_001285402.2:c.909A>C	NP_001272331.1:p.Pro303=
NM_001285403.3:c.*997A>C	NP_001272332.1:n.*997A>C
NM_014336.5:c.1026A>C MANE Select	NP_055151.3:p.Pro342=
NM_001285403.4:c.*997A>C	NP_001272332.1:n.*997A>C