Canonical Allele Identifier: CA497687269

Gene: AIPL1

Linked Data

• MyVariant Identifiers: chr17:g.6328798C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425478C>A , CM000679.2:g.6425478C>A	GRCh38
NC_000017.10:g.6328798C>A , CM000679.1:g.6328798C>A	GRCh37
NC_000017.9:g.6269522C>A	NCBI36
NG_008474.1:g.14722G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000381129.8:c.1137G>T MANE Select	ENSP00000370521.3:p.Gly379=
ENST00000250087.9:c.948G>T	ENSP00000250087.5:p.Gly316=
ENST00000381128.2:c.*1009G>T	ENSP00000370520.2:n.*1009G>T
ENST00000381129.7:c.1137G>T	ENSP00000370521.3:p.Gly379=
ENST00000570466.5:c.1071G>T	ENSP00000461287.1:p.Gly357=
ENST00000570584.5:c.251+8441G>T
ENST00000574506.5:c.1101G>T	ENSP00000458456.1:p.Gly367=
ENST00000575265.5:c.*1108G>T	ENSP00000459673.1:n.*1108G>T
ENST00000576307.5:c.957G>T	ENSP00000459522.1:p.Gly319=
ENST00000576776.5:c.1065G>T	ENSP00000460827.1:p.Gly355=
ENST00000621374.4:c.*155G>T	ENSP00000481337.1:n.*155G>T
NM_001033054.2:c.948G>T	NP_001028226.1:p.Gly316=
NM_001033055.2:c.957G>T	NP_001028227.1:p.Gly319=
NM_001285399.2:c.1101G>T	NP_001272328.1:p.Gly367=
NM_001285400.2:c.1071G>T	NP_001272329.1:p.Gly357=
NM_001285401.2:c.1065G>T	NP_001272330.1:p.Gly355=
NM_001285402.1:c.1020G>T	NP_001272331.1:p.Gly340=
NM_014336.4:c.1137G>T	NP_055151.3:p.Gly379=
NM_001033054.3:c.948G>T	NP_001028226.1:p.Gly316=
NM_001033055.3:c.957G>T	NP_001028227.1:p.Gly319=
NM_001285399.3:c.1101G>T	NP_001272328.1:p.Gly367=
NM_001285400.3:c.1071G>T	NP_001272329.1:p.Gly357=
NM_001285401.3:c.1065G>T	NP_001272330.1:p.Gly355=
NM_001285402.2:c.1020G>T	NP_001272331.1:p.Gly340=
NM_001285403.3:c.*1108G>T	NP_001272332.1:n.*1108G>T
NM_014336.5:c.1137G>T MANE Select	NP_055151.3:p.Gly379=
NM_001285403.4:c.*1108G>T	NP_001272332.1:n.*1108G>T