Canonical Allele Identifier: CA397394504

Gene: AIPL1

Linked Data

• MyVariant Identifiers: chr17:g.6328957C>G (hg19) ; chr17:g.6425637C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425637C>G , CM000679.2:g.6425637C>G	GRCh38
NC_000017.10:g.6328957C>G , CM000679.1:g.6328957C>G	GRCh37
NC_000017.9:g.6269681C>G	NCBI36
NG_008474.1:g.14563G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.978G>C MANE Select	ENSP00000370521.3:p.Met326Ile
ENST00000250087.9:c.789G>C	ENSP00000250087.5:p.Met263Ile
ENST00000381128.2:c.*850G>C	ENSP00000370520.2:n.*850G>C
ENST00000381129.7:c.978G>C	ENSP00000370521.3:p.Met326Ile
ENST00000570466.5:c.912G>C	ENSP00000461287.1:p.Met304Ile
ENST00000570584.5:c.251+8282G>C
ENST00000574506.5:c.942G>C	ENSP00000458456.1:p.Met314Ile
ENST00000575265.5:c.*949G>C	ENSP00000459673.1:n.*949G>C
ENST00000576307.5:c.798G>C	ENSP00000459522.1:p.Met266Ile
ENST00000576776.5:c.906G>C	ENSP00000460827.1:p.Met302Ile
ENST00000621374.4:c.977G>C	ENSP00000481337.1:p.Cys326Ser
NM_001033054.2:c.789G>C	NP_001028226.1:p.Met263Ile
NM_001033055.2:c.798G>C	NP_001028227.1:p.Met266Ile
NM_001285399.2:c.942G>C	NP_001272328.1:p.Met314Ile
NM_001285400.2:c.912G>C	NP_001272329.1:p.Met304Ile
NM_001285401.2:c.906G>C	NP_001272330.1:p.Met302Ile
NM_001285402.1:c.861G>C	NP_001272331.1:p.Met287Ile
NM_014336.4:c.978G>C	NP_055151.3:p.Met326Ile
NM_001033054.3:c.789G>C	NP_001028226.1:p.Met263Ile
NM_001033055.3:c.798G>C	NP_001028227.1:p.Met266Ile
NM_001285399.3:c.942G>C	NP_001272328.1:p.Met314Ile
NM_001285400.3:c.912G>C	NP_001272329.1:p.Met304Ile
NM_001285401.3:c.906G>C	NP_001272330.1:p.Met302Ile
NM_001285402.2:c.861G>C	NP_001272331.1:p.Met287Ile
NM_001285403.3:c.*949G>C	NP_001272332.1:n.*949G>C
NM_014336.5:c.978G>C MANE Select	NP_055151.3:p.Met326Ile
NM_001285403.4:c.*949G>C	NP_001272332.1:n.*949G>C