Canonical Allele Identifier: CA397394216

Gene: AIPL1

Linked Data

• MyVariant Identifiers: chr17:g.6328811G>C (hg19) ; chr17:g.6425491G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425491G>C , CM000679.2:g.6425491G>C	GRCh38
NC_000017.10:g.6328811G>C , CM000679.1:g.6328811G>C	GRCh37
NC_000017.9:g.6269535G>C	NCBI36
NG_008474.1:g.14709C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000381129.8:c.1124C>G MANE Select	ENSP00000370521.3:p.Pro375Arg
ENST00000250087.9:c.935C>G	ENSP00000250087.5:p.Pro312Arg
ENST00000381128.2:c.*996C>G	ENSP00000370520.2:n.*996C>G
ENST00000381129.7:c.1124C>G	ENSP00000370521.3:p.Pro375Arg
ENST00000570466.5:c.1058C>G	ENSP00000461287.1:p.Pro353Arg
ENST00000570584.5:c.251+8428C>G
ENST00000574506.5:c.1088C>G	ENSP00000458456.1:p.Pro363Arg
ENST00000575265.5:c.*1095C>G	ENSP00000459673.1:n.*1095C>G
ENST00000576307.5:c.944C>G	ENSP00000459522.1:p.Pro315Arg
ENST00000576776.5:c.1052C>G	ENSP00000460827.1:p.Pro351Arg
ENST00000621374.4:c.*142C>G	ENSP00000481337.1:n.*142C>G
NM_001033054.2:c.935C>G	NP_001028226.1:p.Pro312Arg
NM_001033055.2:c.944C>G	NP_001028227.1:p.Pro315Arg
NM_001285399.2:c.1088C>G	NP_001272328.1:p.Pro363Arg
NM_001285400.2:c.1058C>G	NP_001272329.1:p.Pro353Arg
NM_001285401.2:c.1052C>G	NP_001272330.1:p.Pro351Arg
NM_001285402.1:c.1007C>G	NP_001272331.1:p.Pro336Arg
NM_014336.4:c.1124C>G	NP_055151.3:p.Pro375Arg
NM_001033054.3:c.935C>G	NP_001028226.1:p.Pro312Arg
NM_001033055.3:c.944C>G	NP_001028227.1:p.Pro315Arg
NM_001285399.3:c.1088C>G	NP_001272328.1:p.Pro363Arg
NM_001285400.3:c.1058C>G	NP_001272329.1:p.Pro353Arg
NM_001285401.3:c.1052C>G	NP_001272330.1:p.Pro351Arg
NM_001285402.2:c.1007C>G	NP_001272331.1:p.Pro336Arg
NM_001285403.3:c.*1095C>G	NP_001272332.1:n.*1095C>G
NM_014336.5:c.1124C>G MANE Select	NP_055151.3:p.Pro375Arg
NM_001285403.4:c.*1095C>G	NP_001272332.1:n.*1095C>G