Canonical Allele Identifier: CA397394609

Gene: AIPL1

Linked Data

• MyVariant Identifiers: chr17:g.6328998C>G (hg19) ; chr17:g.6425678C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425678C>G , CM000679.2:g.6425678C>G	GRCh38
NC_000017.10:g.6328998C>G , CM000679.1:g.6328998C>G	GRCh37
NC_000017.9:g.6269722C>G	NCBI36
NG_008474.1:g.14522G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.937G>C MANE Select	ENSP00000370521.3:p.Ala313Pro
ENST00000250087.9:c.748G>C	ENSP00000250087.5:p.Ala250Pro
ENST00000381128.2:c.*809G>C	ENSP00000370520.2:n.*809G>C
ENST00000381129.7:c.937G>C	ENSP00000370521.3:p.Ala313Pro
ENST00000570466.5:c.871G>C	ENSP00000461287.1:p.Ala291Pro
ENST00000570584.5:c.251+8241G>C
ENST00000574506.5:c.901G>C	ENSP00000458456.1:p.Ala301Pro
ENST00000575265.5:c.*908G>C	ENSP00000459673.1:n.*908G>C
ENST00000576307.5:c.757G>C	ENSP00000459522.1:p.Ala253Pro
ENST00000576776.5:c.865G>C	ENSP00000460827.1:p.Ala289Pro
ENST00000621374.4:c.936G>C	ENSP00000481337.1:p.Trp312Cys
NM_001033054.2:c.748G>C	NP_001028226.1:p.Ala250Pro
NM_001033055.2:c.757G>C	NP_001028227.1:p.Ala253Pro
NM_001285399.2:c.901G>C	NP_001272328.1:p.Ala301Pro
NM_001285400.2:c.871G>C	NP_001272329.1:p.Ala291Pro
NM_001285401.2:c.865G>C	NP_001272330.1:p.Ala289Pro
NM_001285402.1:c.820G>C	NP_001272331.1:p.Ala274Pro
NM_014336.4:c.937G>C	NP_055151.3:p.Ala313Pro
NM_001033054.3:c.748G>C	NP_001028226.1:p.Ala250Pro
NM_001033055.3:c.757G>C	NP_001028227.1:p.Ala253Pro
NM_001285399.3:c.901G>C	NP_001272328.1:p.Ala301Pro
NM_001285400.3:c.871G>C	NP_001272329.1:p.Ala291Pro
NM_001285401.3:c.865G>C	NP_001272330.1:p.Ala289Pro
NM_001285402.2:c.820G>C	NP_001272331.1:p.Ala274Pro
NM_001285403.3:c.*908G>C	NP_001272332.1:n.*908G>C
NM_014336.5:c.937G>C MANE Select	NP_055151.3:p.Ala313Pro
NM_001285403.4:c.*908G>C	NP_001272332.1:n.*908G>C