Canonical Allele Identifier: CA396557837

Gene: AARS1

Linked Data

• dbSNP Id: rs149777415
• MyVariant Identifiers: chr16:g.70292103A>T (hg19) ; chr16:g.70258200A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70258200A>T , CM000678.2:g.70258200A>T	GRCh38
NC_000016.9:g.70292103A>T , CM000678.1:g.70292103A>T	GRCh37
NC_000016.8:g.68849604A>T	NCBI36
NG_023191.1:g.36310T>A , LRG_359:g.36310T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261772.13:c.2010T>A MANE Select	ENSP00000261772.8:p.Asp670Glu
ENST00000564359.6:n.2150+780T>A
ENST00000565361.3:c.2010T>A	ENSP00000455360.3:p.Asp670Glu
ENST00000674512.1:c.1989T>A	ENSP00000501613.1:p.Asp663Glu
ENST00000674652.1:c.*1799T>A	ENSP00000502620.1:n.*1799T>A
ENST00000674691.1:c.2010T>A	ENSP00000502247.1:p.Asp670Glu
ENST00000674768.1:c.*265T>A	ENSP00000501679.1:n.*265T>A
ENST00000674811.1:c.*203T>A	ENSP00000502055.1:n.*203T>A
ENST00000674848.1:n.2059T>A
ENST00000674962.1:n.2168T>A
ENST00000674963.1:c.2010T>A	ENSP00000501924.1:p.Asp670Glu
ENST00000675035.1:c.2010T>A	ENSP00000502712.1:p.Asp670Glu
ENST00000675045.1:c.2037T>A	ENSP00000502014.1:p.Asp679Glu
ENST00000675120.1:c.*320T>A	ENSP00000502823.1:n.*320T>A
ENST00000675133.1:c.1983T>A	ENSP00000502230.1:p.Asp661Glu
ENST00000675270.1:n.2145T>A
ENST00000675297.1:c.*362T>A	ENSP00000502753.1:n.*362T>A
ENST00000675371.1:c.1992+780T>A	ENSP00000502645.1:n.1992+780T>A
ENST00000675403.1:n.2930T>A
ENST00000675569.1:c.*1244T>A	ENSP00000502534.1:n.*1244T>A
ENST00000675643.1:c.2010T>A	ENSP00000502797.1:p.Asp670Glu
ENST00000675691.1:c.1881T>A	ENSP00000502196.1:p.Asp627Glu
ENST00000675751.1:c.*1037T>A	ENSP00000502277.1:n.*1037T>A
ENST00000675853.1:c.2010T>A	ENSP00000502367.1:p.Asp670Glu
ENST00000675917.1:n.2307T>A
ENST00000675953.1:c.1926T>A	ENSP00000502321.1:p.Asp642Glu
ENST00000675986.1:n.2168T>A
ENST00000676004.1:c.*2009T>A	ENSP00000502765.1:n.*2009T>A
ENST00000676040.1:c.*1244T>A	ENSP00000502108.1:n.*1244T>A
ENST00000676168.1:c.1992+780T>A	ENSP00000502479.1:n.1992+780T>A
ENST00000676209.1:c.*362T>A	ENSP00000502052.1:n.*362T>A
ENST00000676211.1:c.*1037T>A	ENSP00000502726.1:n.*1037T>A
ENST00000676212.1:c.2010T>A	ENSP00000501853.1:p.Asp670Glu
ENST00000676247.1:c.*362T>A	ENSP00000502699.1:n.*362T>A
ENST00000261772.12:c.2010T>A	ENSP00000261772.7:p.Asp670Glu
ENST00000564359.5:n.488+780T>A
ENST00000565361.2:c.355T>A
ENST00000569825.1:n.16T>A
NM_001605.2:c.2010T>A , LRG_359t1:c.2010T>A	NP_001596.2:p.Asp670Glu
XR_933220.1:n.2143+780T>A
XR_933220.3:n.2102+780T>A
NM_001605.3:c.2010T>A MANE Select	NP_001596.2:p.Asp670Glu