Canonical Allele Identifier: CA397394193

Gene: AIPL1

Linked Data

• MyVariant Identifiers: chr17:g.6328797G>T (hg19) ; chr17:g.6425477G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425477G>T , CM000679.2:g.6425477G>T	GRCh38
NC_000017.10:g.6328797G>T , CM000679.1:g.6328797G>T	GRCh37
NC_000017.9:g.6269521G>T	NCBI36
NG_008474.1:g.14723C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000381129.8:c.1138C>A MANE Select	ENSP00000370521.3:p.His380Asn
ENST00000250087.9:c.949C>A	ENSP00000250087.5:p.His317Asn
ENST00000381128.2:c.*1010C>A	ENSP00000370520.2:n.*1010C>A
ENST00000381129.7:c.1138C>A	ENSP00000370521.3:p.His380Asn
ENST00000570466.5:c.1072C>A	ENSP00000461287.1:p.His358Asn
ENST00000570584.5:c.251+8442C>A
ENST00000574506.5:c.1102C>A	ENSP00000458456.1:p.His368Asn
ENST00000575265.5:c.*1109C>A	ENSP00000459673.1:n.*1109C>A
ENST00000576307.5:c.958C>A	ENSP00000459522.1:p.His320Asn
ENST00000576776.5:c.1066C>A	ENSP00000460827.1:p.His356Asn
ENST00000621374.4:c.*156C>A	ENSP00000481337.1:n.*156C>A
NM_001033054.2:c.949C>A	NP_001028226.1:p.His317Asn
NM_001033055.2:c.958C>A	NP_001028227.1:p.His320Asn
NM_001285399.2:c.1102C>A	NP_001272328.1:p.His368Asn
NM_001285400.2:c.1072C>A	NP_001272329.1:p.His358Asn
NM_001285401.2:c.1066C>A	NP_001272330.1:p.His356Asn
NM_001285402.1:c.1021C>A	NP_001272331.1:p.His341Asn
NM_014336.4:c.1138C>A	NP_055151.3:p.His380Asn
NM_001033054.3:c.949C>A	NP_001028226.1:p.His317Asn
NM_001033055.3:c.958C>A	NP_001028227.1:p.His320Asn
NM_001285399.3:c.1102C>A	NP_001272328.1:p.His368Asn
NM_001285400.3:c.1072C>A	NP_001272329.1:p.His358Asn
NM_001285401.3:c.1066C>A	NP_001272330.1:p.His356Asn
NM_001285402.2:c.1021C>A	NP_001272331.1:p.His341Asn
NM_001285403.3:c.*1109C>A	NP_001272332.1:n.*1109C>A
NM_014336.5:c.1138C>A MANE Select	NP_055151.3:p.His380Asn
NM_001285403.4:c.*1109C>A	NP_001272332.1:n.*1109C>A