Canonical Allele Identifier: CA397394899

Gene: AIPL1

Linked Data

• gnomAD v4: 17-6425815-T-C
• MyVariant Identifiers: chr17:g.6329135T>C (hg19) ; chr17:g.6425815T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425815T>C , CM000679.2:g.6425815T>C	GRCh38
NC_000017.10:g.6329135T>C , CM000679.1:g.6329135T>C	GRCh37
NC_000017.9:g.6269859T>C	NCBI36
NG_008474.1:g.14385A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.800A>G MANE Select	ENSP00000370521.3:p.Tyr267Cys
ENST00000250087.9:c.611A>G	ENSP00000250087.5:p.Tyr204Cys
ENST00000381128.2:c.*672A>G	ENSP00000370520.2:n.*672A>G
ENST00000381129.7:c.800A>G	ENSP00000370521.3:p.Tyr267Cys
ENST00000570466.5:c.734A>G	ENSP00000461287.1:p.Tyr245Cys
ENST00000570584.5:c.251+8104A>G
ENST00000574506.5:c.764A>G	ENSP00000458456.1:p.Tyr255Cys
ENST00000575265.5:c.*771A>G	ENSP00000459673.1:n.*771A>G
ENST00000576307.5:c.620A>G	ENSP00000459522.1:p.Tyr207Cys
ENST00000576776.5:c.728A>G	ENSP00000460827.1:p.Tyr243Cys
ENST00000621374.4:c.800A>G	ENSP00000481337.1:p.Tyr267Cys
NM_001033054.2:c.611A>G	NP_001028226.1:p.Tyr204Cys
NM_001033055.2:c.620A>G	NP_001028227.1:p.Tyr207Cys
NM_001285399.2:c.764A>G	NP_001272328.1:p.Tyr255Cys
NM_001285400.2:c.734A>G	NP_001272329.1:p.Tyr245Cys
NM_001285401.2:c.728A>G	NP_001272330.1:p.Tyr243Cys
NM_001285402.1:c.683A>G	NP_001272331.1:p.Tyr228Cys
NM_014336.4:c.800A>G	NP_055151.3:p.Tyr267Cys
NM_001033054.3:c.611A>G	NP_001028226.1:p.Tyr204Cys
NM_001033055.3:c.620A>G	NP_001028227.1:p.Tyr207Cys
NM_001285399.3:c.764A>G	NP_001272328.1:p.Tyr255Cys
NM_001285400.3:c.734A>G	NP_001272329.1:p.Tyr245Cys
NM_001285401.3:c.728A>G	NP_001272330.1:p.Tyr243Cys
NM_001285402.2:c.683A>G	NP_001272331.1:p.Tyr228Cys
NM_001285403.3:c.*771A>G	NP_001272332.1:n.*771A>G
NM_014336.5:c.800A>G MANE Select	NP_055151.3:p.Tyr267Cys
NM_001285403.4:c.*771A>G	NP_001272332.1:n.*771A>G