Canonical Allele Identifier: CA397394177

Gene: AIPL1

Linked Data

• dbSNP Id: rs751647463
• gnomAD v4: 17-6425470-A-G
• MyVariant Identifiers: chr17:g.6328790A>G (hg19) ; chr17:g.6425470A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425470A>G , CM000679.2:g.6425470A>G	GRCh38
NC_000017.10:g.6328790A>G , CM000679.1:g.6328790A>G	GRCh37
NC_000017.9:g.6269514A>G	NCBI36
NG_008474.1:g.14730T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000381129.8:c.1145T>C MANE Select	ENSP00000370521.3:p.Leu382Pro
ENST00000250087.9:c.956T>C	ENSP00000250087.5:p.Leu319Pro
ENST00000381128.2:c.*1017T>C	ENSP00000370520.2:n.*1017T>C
ENST00000381129.7:c.1145T>C	ENSP00000370521.3:p.Leu382Pro
ENST00000570466.5:c.1079T>C	ENSP00000461287.1:p.Leu360Pro
ENST00000570584.5:c.251+8449T>C
ENST00000574506.5:c.1109T>C	ENSP00000458456.1:p.Leu370Pro
ENST00000575265.5:c.*1116T>C	ENSP00000459673.1:n.*1116T>C
ENST00000576307.5:c.965T>C	ENSP00000459522.1:p.Leu322Pro
ENST00000576776.5:c.1073T>C	ENSP00000460827.1:p.Leu358Pro
ENST00000621374.4:c.*163T>C	ENSP00000481337.1:n.*163T>C
NM_001033054.2:c.956T>C	NP_001028226.1:p.Leu319Pro
NM_001033055.2:c.965T>C	NP_001028227.1:p.Leu322Pro
NM_001285399.2:c.1109T>C	NP_001272328.1:p.Leu370Pro
NM_001285400.2:c.1079T>C	NP_001272329.1:p.Leu360Pro
NM_001285401.2:c.1073T>C	NP_001272330.1:p.Leu358Pro
NM_001285402.1:c.1028T>C	NP_001272331.1:p.Leu343Pro
NM_014336.4:c.1145T>C	NP_055151.3:p.Leu382Pro
NM_001033054.3:c.956T>C	NP_001028226.1:p.Leu319Pro
NM_001033055.3:c.965T>C	NP_001028227.1:p.Leu322Pro
NM_001285399.3:c.1109T>C	NP_001272328.1:p.Leu370Pro
NM_001285400.3:c.1079T>C	NP_001272329.1:p.Leu360Pro
NM_001285401.3:c.1073T>C	NP_001272330.1:p.Leu358Pro
NM_001285402.2:c.1028T>C	NP_001272331.1:p.Leu343Pro
NM_001285403.3:c.*1116T>C	NP_001272332.1:n.*1116T>C
NM_014336.5:c.1145T>C MANE Select	NP_055151.3:p.Leu382Pro
NM_001285403.4:c.*1116T>C	NP_001272332.1:n.*1116T>C