Canonical Allele Identifier: CA397394197

Gene: AIPL1

Linked Data

• MyVariant Identifiers: chr17:g.6328800C>A (hg19) ; chr17:g.6425480C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425480C>A , CM000679.2:g.6425480C>A	GRCh38
NC_000017.10:g.6328800C>A , CM000679.1:g.6328800C>A	GRCh37
NC_000017.9:g.6269524C>A	NCBI36
NG_008474.1:g.14720G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000381129.8:c.1135G>T MANE Select	ENSP00000370521.3:p.Gly379Trp
ENST00000250087.9:c.946G>T	ENSP00000250087.5:p.Gly316Trp
ENST00000381128.2:c.*1007G>T	ENSP00000370520.2:n.*1007G>T
ENST00000381129.7:c.1135G>T	ENSP00000370521.3:p.Gly379Trp
ENST00000570466.5:c.1069G>T	ENSP00000461287.1:p.Gly357Trp
ENST00000570584.5:c.251+8439G>T
ENST00000574506.5:c.1099G>T	ENSP00000458456.1:p.Gly367Trp
ENST00000575265.5:c.*1106G>T	ENSP00000459673.1:n.*1106G>T
ENST00000576307.5:c.955G>T	ENSP00000459522.1:p.Gly319Trp
ENST00000576776.5:c.1063G>T	ENSP00000460827.1:p.Gly355Trp
ENST00000621374.4:c.*153G>T	ENSP00000481337.1:n.*153G>T
NM_001033054.2:c.946G>T	NP_001028226.1:p.Gly316Trp
NM_001033055.2:c.955G>T	NP_001028227.1:p.Gly319Trp
NM_001285399.2:c.1099G>T	NP_001272328.1:p.Gly367Trp
NM_001285400.2:c.1069G>T	NP_001272329.1:p.Gly357Trp
NM_001285401.2:c.1063G>T	NP_001272330.1:p.Gly355Trp
NM_001285402.1:c.1018G>T	NP_001272331.1:p.Gly340Trp
NM_014336.4:c.1135G>T	NP_055151.3:p.Gly379Trp
NM_001033054.3:c.946G>T	NP_001028226.1:p.Gly316Trp
NM_001033055.3:c.955G>T	NP_001028227.1:p.Gly319Trp
NM_001285399.3:c.1099G>T	NP_001272328.1:p.Gly367Trp
NM_001285400.3:c.1069G>T	NP_001272329.1:p.Gly357Trp
NM_001285401.3:c.1063G>T	NP_001272330.1:p.Gly355Trp
NM_001285402.2:c.1018G>T	NP_001272331.1:p.Gly340Trp
NM_001285403.3:c.*1106G>T	NP_001272332.1:n.*1106G>T
NM_014336.5:c.1135G>T MANE Select	NP_055151.3:p.Gly379Trp
NM_001285403.4:c.*1106G>T	NP_001272332.1:n.*1106G>T