Canonical Allele Identifier: CA396557732

Gene: AARS1

Linked Data

• MyVariant Identifiers: chr16:g.70292051C>T (hg19) ; chr16:g.70258148C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70258148C>T , CM000678.2:g.70258148C>T	GRCh38
NC_000016.9:g.70292051C>T , CM000678.1:g.70292051C>T	GRCh37
NC_000016.8:g.68849552C>T	NCBI36
NG_023191.1:g.36362G>A , LRG_359:g.36362G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261772.13:c.2062G>A MANE Select	ENSP00000261772.8:p.Glu688Lys
ENST00000564359.6:n.2150+832G>A
ENST00000565361.3:c.2062G>A	ENSP00000455360.3:p.Glu688Lys
ENST00000674512.1:c.2041G>A	ENSP00000501613.1:p.Glu681Lys
ENST00000674652.1:c.*1851G>A	ENSP00000502620.1:n.*1851G>A
ENST00000674691.1:c.2062G>A	ENSP00000502247.1:p.Glu688Lys
ENST00000674768.1:c.*317G>A	ENSP00000501679.1:n.*317G>A
ENST00000674811.1:c.*255G>A	ENSP00000502055.1:n.*255G>A
ENST00000674848.1:n.2111G>A
ENST00000674962.1:n.2220G>A
ENST00000674963.1:c.2062G>A	ENSP00000501924.1:p.Glu688Lys
ENST00000675035.1:c.2062G>A	ENSP00000502712.1:p.Glu688Lys
ENST00000675045.1:c.2089G>A	ENSP00000502014.1:p.Glu697Lys
ENST00000675120.1:c.*372G>A	ENSP00000502823.1:n.*372G>A
ENST00000675133.1:c.2035G>A	ENSP00000502230.1:p.Glu679Lys
ENST00000675270.1:n.2197G>A
ENST00000675297.1:c.*414G>A	ENSP00000502753.1:n.*414G>A
ENST00000675371.1:c.1992+832G>A	ENSP00000502645.1:n.1992+832G>A
ENST00000675403.1:n.2982G>A
ENST00000675569.1:c.*1296G>A	ENSP00000502534.1:n.*1296G>A
ENST00000675643.1:c.2062G>A	ENSP00000502797.1:p.Glu688Lys
ENST00000675691.1:c.1933G>A	ENSP00000502196.1:p.Glu645Lys
ENST00000675751.1:c.*1089G>A	ENSP00000502277.1:n.*1089G>A
ENST00000675853.1:c.2062G>A	ENSP00000502367.1:p.Glu688Lys
ENST00000675917.1:n.2359G>A
ENST00000675953.1:c.1978G>A	ENSP00000502321.1:p.Glu660Lys
ENST00000675986.1:n.2220G>A
ENST00000676004.1:c.*2061G>A	ENSP00000502765.1:n.*2061G>A
ENST00000676040.1:c.*1296G>A	ENSP00000502108.1:n.*1296G>A
ENST00000676168.1:c.1992+832G>A	ENSP00000502479.1:n.1992+832G>A
ENST00000676209.1:c.*414G>A	ENSP00000502052.1:n.*414G>A
ENST00000676211.1:c.*1089G>A	ENSP00000502726.1:n.*1089G>A
ENST00000676212.1:c.2062G>A	ENSP00000501853.1:p.Glu688Lys
ENST00000676247.1:c.*414G>A	ENSP00000502699.1:n.*414G>A
ENST00000261772.12:c.2062G>A	ENSP00000261772.7:p.Glu688Lys
ENST00000564359.5:n.488+832G>A
ENST00000565361.2:c.407G>A
ENST00000569825.1:n.68G>A
NM_001605.2:c.2062G>A , LRG_359t1:c.2062G>A	NP_001596.2:p.Glu688Lys
XR_933220.1:n.2143+832G>A
XR_933220.3:n.2102+832G>A
NM_001605.3:c.2062G>A MANE Select	NP_001596.2:p.Glu688Lys