Canonical Allele Identifier: CA397394519

Gene: AIPL1

Linked Data

• MyVariant Identifiers: chr17:g.6328962T>C (hg19) ; chr17:g.6425642T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425642T>C , CM000679.2:g.6425642T>C	GRCh38
NC_000017.10:g.6328962T>C , CM000679.1:g.6328962T>C	GRCh37
NC_000017.9:g.6269686T>C	NCBI36
NG_008474.1:g.14558A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.973A>G MANE Select	ENSP00000370521.3:p.Asn325Asp
ENST00000250087.9:c.784A>G	ENSP00000250087.5:p.Asn262Asp
ENST00000381128.2:c.*845A>G	ENSP00000370520.2:n.*845A>G
ENST00000381129.7:c.973A>G	ENSP00000370521.3:p.Asn325Asp
ENST00000570466.5:c.907A>G	ENSP00000461287.1:p.Asn303Asp
ENST00000570584.5:c.251+8277A>G
ENST00000574506.5:c.937A>G	ENSP00000458456.1:p.Asn313Asp
ENST00000575265.5:c.*944A>G	ENSP00000459673.1:n.*944A>G
ENST00000576307.5:c.793A>G	ENSP00000459522.1:p.Asn265Asp
ENST00000576776.5:c.901A>G	ENSP00000460827.1:p.Asn301Asp
ENST00000621374.4:c.972A>G	ENSP00000481337.1:p.Gly324=
NM_001033054.2:c.784A>G	NP_001028226.1:p.Asn262Asp
NM_001033055.2:c.793A>G	NP_001028227.1:p.Asn265Asp
NM_001285399.2:c.937A>G	NP_001272328.1:p.Asn313Asp
NM_001285400.2:c.907A>G	NP_001272329.1:p.Asn303Asp
NM_001285401.2:c.901A>G	NP_001272330.1:p.Asn301Asp
NM_001285402.1:c.856A>G	NP_001272331.1:p.Asn286Asp
NM_014336.4:c.973A>G	NP_055151.3:p.Asn325Asp
NM_001033054.3:c.784A>G	NP_001028226.1:p.Asn262Asp
NM_001033055.3:c.793A>G	NP_001028227.1:p.Asn265Asp
NM_001285399.3:c.937A>G	NP_001272328.1:p.Asn313Asp
NM_001285400.3:c.907A>G	NP_001272329.1:p.Asn303Asp
NM_001285401.3:c.901A>G	NP_001272330.1:p.Asn301Asp
NM_001285402.2:c.856A>G	NP_001272331.1:p.Asn286Asp
NM_001285403.3:c.*944A>G	NP_001272332.1:n.*944A>G
NM_014336.5:c.973A>G MANE Select	NP_055151.3:p.Asn325Asp
NM_001285403.4:c.*944A>G	NP_001272332.1:n.*944A>G