Canonical Allele Identifier: CA397394255

Gene: AIPL1

Linked Data

• COSMIC: COSM6388080
• MyVariant Identifiers: chr17:g.6328830C>A (hg19) ; chr17:g.6425510C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425510C>A , CM000679.2:g.6425510C>A	GRCh38
NC_000017.10:g.6328830C>A , CM000679.1:g.6328830C>A	GRCh37
NC_000017.9:g.6269554C>A	NCBI36
NG_008474.1:g.14690G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.1105G>T MANE Select	ENSP00000370521.3:p.Glu369Ter
ENST00000250087.9:c.916G>T	ENSP00000250087.5:p.Glu306Ter
ENST00000381128.2:c.*977G>T	ENSP00000370520.2:n.*977G>T
ENST00000381129.7:c.1105G>T	ENSP00000370521.3:p.Glu369Ter
ENST00000570466.5:c.1039G>T	ENSP00000461287.1:p.Glu347Ter
ENST00000570584.5:c.251+8409G>T
ENST00000574506.5:c.1069G>T	ENSP00000458456.1:p.Glu357Ter
ENST00000575265.5:c.*1076G>T	ENSP00000459673.1:n.*1076G>T
ENST00000576307.5:c.925G>T	ENSP00000459522.1:p.Glu309Ter
ENST00000576776.5:c.1033G>T	ENSP00000460827.1:p.Glu345Ter
ENST00000621374.4:c.*123G>T	ENSP00000481337.1:n.*123G>T
NM_001033054.2:c.916G>T	NP_001028226.1:p.Glu306Ter
NM_001033055.2:c.925G>T	NP_001028227.1:p.Glu309Ter
NM_001285399.2:c.1069G>T	NP_001272328.1:p.Glu357Ter
NM_001285400.2:c.1039G>T	NP_001272329.1:p.Glu347Ter
NM_001285401.2:c.1033G>T	NP_001272330.1:p.Glu345Ter
NM_001285402.1:c.988G>T	NP_001272331.1:p.Glu330Ter
NM_014336.4:c.1105G>T	NP_055151.3:p.Glu369Ter
NM_001033054.3:c.916G>T	NP_001028226.1:p.Glu306Ter
NM_001033055.3:c.925G>T	NP_001028227.1:p.Glu309Ter
NM_001285399.3:c.1069G>T	NP_001272328.1:p.Glu357Ter
NM_001285400.3:c.1039G>T	NP_001272329.1:p.Glu347Ter
NM_001285401.3:c.1033G>T	NP_001272330.1:p.Glu345Ter
NM_001285402.2:c.988G>T	NP_001272331.1:p.Glu330Ter
NM_001285403.3:c.*1076G>T	NP_001272332.1:n.*1076G>T
NM_014336.5:c.1105G>T MANE Select	NP_055151.3:p.Glu369Ter
NM_001285403.4:c.*1076G>T	NP_001272332.1:n.*1076G>T