Canonical Allele Identifier: CA397394355

Gene: AIPL1

Linked Data

• MyVariant Identifiers: chr17:g.6328883G>T (hg19) ; chr17:g.6425563G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425563G>T , CM000679.2:g.6425563G>T	GRCh38
NC_000017.10:g.6328883G>T , CM000679.1:g.6328883G>T	GRCh37
NC_000017.9:g.6269607G>T	NCBI36
NG_008474.1:g.14637C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000381129.8:c.1052C>A MANE Select	ENSP00000370521.3:p.Pro351His
ENST00000250087.9:c.863C>A	ENSP00000250087.5:p.Pro288His
ENST00000381128.2:c.*924C>A	ENSP00000370520.2:n.*924C>A
ENST00000381129.7:c.1052C>A	ENSP00000370521.3:p.Pro351His
ENST00000570466.5:c.986C>A	ENSP00000461287.1:p.Pro329His
ENST00000570584.5:c.251+8356C>A
ENST00000574506.5:c.1016C>A	ENSP00000458456.1:p.Pro339His
ENST00000575265.5:c.*1023C>A	ENSP00000459673.1:n.*1023C>A
ENST00000576307.5:c.872C>A	ENSP00000459522.1:p.Pro291His
ENST00000576776.5:c.980C>A	ENSP00000460827.1:p.Pro327His
ENST00000621374.4:c.*70C>A	ENSP00000481337.1:n.*70C>A
NM_001033054.2:c.863C>A	NP_001028226.1:p.Pro288His
NM_001033055.2:c.872C>A	NP_001028227.1:p.Pro291His
NM_001285399.2:c.1016C>A	NP_001272328.1:p.Pro339His
NM_001285400.2:c.986C>A	NP_001272329.1:p.Pro329His
NM_001285401.2:c.980C>A	NP_001272330.1:p.Pro327His
NM_001285402.1:c.935C>A	NP_001272331.1:p.Pro312His
NM_014336.4:c.1052C>A	NP_055151.3:p.Pro351His
NM_001033054.3:c.863C>A	NP_001028226.1:p.Pro288His
NM_001033055.3:c.872C>A	NP_001028227.1:p.Pro291His
NM_001285399.3:c.1016C>A	NP_001272328.1:p.Pro339His
NM_001285400.3:c.986C>A	NP_001272329.1:p.Pro329His
NM_001285401.3:c.980C>A	NP_001272330.1:p.Pro327His
NM_001285402.2:c.935C>A	NP_001272331.1:p.Pro312His
NM_001285403.3:c.*1023C>A	NP_001272332.1:n.*1023C>A
NM_014336.5:c.1052C>A MANE Select	NP_055151.3:p.Pro351His
NM_001285403.4:c.*1023C>A	NP_001272332.1:n.*1023C>A