Canonical Allele Identifier: CA497687385

Gene: AIPL1

Linked Data

• gnomAD v4: 17-6425693-G-A
• MyVariant Identifiers: chr17:g.6329013G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425693G>A , CM000679.2:g.6425693G>A	GRCh38
NC_000017.10:g.6329013G>A , CM000679.1:g.6329013G>A	GRCh37
NC_000017.9:g.6269737G>A	NCBI36
NG_008474.1:g.14507C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000381129.8:c.922C>T MANE Select	ENSP00000370521.3:p.Leu308=
ENST00000250087.9:c.733C>T	ENSP00000250087.5:p.Leu245=
ENST00000381128.2:c.*794C>T	ENSP00000370520.2:n.*794C>T
ENST00000381129.7:c.922C>T	ENSP00000370521.3:p.Leu308=
ENST00000570466.5:c.856C>T	ENSP00000461287.1:p.Leu286=
ENST00000570584.5:c.251+8226C>T
ENST00000574506.5:c.886C>T	ENSP00000458456.1:p.Leu296=
ENST00000575265.5:c.*893C>T	ENSP00000459673.1:n.*893C>T
ENST00000576307.5:c.742C>T	ENSP00000459522.1:p.Leu248=
ENST00000576776.5:c.850C>T	ENSP00000460827.1:p.Leu284=
ENST00000621374.4:c.922C>T	ENSP00000481337.1:p.Leu308=
NM_001033054.2:c.733C>T	NP_001028226.1:p.Leu245=
NM_001033055.2:c.742C>T	NP_001028227.1:p.Leu248=
NM_001285399.2:c.886C>T	NP_001272328.1:p.Leu296=
NM_001285400.2:c.856C>T	NP_001272329.1:p.Leu286=
NM_001285401.2:c.850C>T	NP_001272330.1:p.Leu284=
NM_001285402.1:c.805C>T	NP_001272331.1:p.Leu269=
NM_014336.4:c.922C>T	NP_055151.3:p.Leu308=
NM_001033054.3:c.733C>T	NP_001028226.1:p.Leu245=
NM_001033055.3:c.742C>T	NP_001028227.1:p.Leu248=
NM_001285399.3:c.886C>T	NP_001272328.1:p.Leu296=
NM_001285400.3:c.856C>T	NP_001272329.1:p.Leu286=
NM_001285401.3:c.850C>T	NP_001272330.1:p.Leu284=
NM_001285402.2:c.805C>T	NP_001272331.1:p.Leu269=
NM_001285403.3:c.*893C>T	NP_001272332.1:n.*893C>T
NM_014336.5:c.922C>T MANE Select	NP_055151.3:p.Leu308=
NM_001285403.4:c.*893C>T	NP_001272332.1:n.*893C>T