Canonical Allele Identifier: CA497687389

Gene: AIPL1

Linked Data

• MyVariant Identifiers: chr17:g.6329014C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425694C>G , CM000679.2:g.6425694C>G	GRCh38
NC_000017.10:g.6329014C>G , CM000679.1:g.6329014C>G	GRCh37
NC_000017.9:g.6269738C>G	NCBI36
NG_008474.1:g.14506G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000381129.8:c.921G>C MANE Select	ENSP00000370521.3:p.Leu307=
ENST00000250087.9:c.732G>C	ENSP00000250087.5:p.Leu244=
ENST00000381128.2:c.*793G>C	ENSP00000370520.2:n.*793G>C
ENST00000381129.7:c.921G>C	ENSP00000370521.3:p.Leu307=
ENST00000570466.5:c.855G>C	ENSP00000461287.1:p.Leu285=
ENST00000570584.5:c.251+8225G>C
ENST00000574506.5:c.885G>C	ENSP00000458456.1:p.Leu295=
ENST00000575265.5:c.*892G>C	ENSP00000459673.1:n.*892G>C
ENST00000576307.5:c.741G>C	ENSP00000459522.1:p.Leu247=
ENST00000576776.5:c.849G>C	ENSP00000460827.1:p.Leu283=
ENST00000621374.4:c.921G>C	ENSP00000481337.1:p.Leu307=
NM_001033054.2:c.732G>C	NP_001028226.1:p.Leu244=
NM_001033055.2:c.741G>C	NP_001028227.1:p.Leu247=
NM_001285399.2:c.885G>C	NP_001272328.1:p.Leu295=
NM_001285400.2:c.855G>C	NP_001272329.1:p.Leu285=
NM_001285401.2:c.849G>C	NP_001272330.1:p.Leu283=
NM_001285402.1:c.804G>C	NP_001272331.1:p.Leu268=
NM_014336.4:c.921G>C	NP_055151.3:p.Leu307=
NM_001033054.3:c.732G>C	NP_001028226.1:p.Leu244=
NM_001033055.3:c.741G>C	NP_001028227.1:p.Leu247=
NM_001285399.3:c.885G>C	NP_001272328.1:p.Leu295=
NM_001285400.3:c.855G>C	NP_001272329.1:p.Leu285=
NM_001285401.3:c.849G>C	NP_001272330.1:p.Leu283=
NM_001285402.2:c.804G>C	NP_001272331.1:p.Leu268=
NM_001285403.3:c.*892G>C	NP_001272332.1:n.*892G>C
NM_014336.5:c.921G>C MANE Select	NP_055151.3:p.Leu307=
NM_001285403.4:c.*892G>C	NP_001272332.1:n.*892G>C