Canonical Allele Identifier: CA396555139

Gene: AARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70253921G>A , CM000678.2:g.70253921G>A	GRCh38
NC_000016.9:g.70287824G>A , CM000678.1:g.70287824G>A	GRCh37
NC_000016.8:g.68845325G>A	NCBI36
NG_023191.1:g.40589C>T , LRG_359:g.40589C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001605.3:c.2518C>T MANE Select	NP_001596.2:p.Arg840Ter
ENST00000261772.13:c.2518C>T MANE Select	ENSP00000261772.8:p.Arg840Ter
NM_001605.2:c.2518C>T , LRG_359t1:c.2518C>T	NP_001596.2:p.Arg840Ter
ENST00000261772.12:c.2518C>T	ENSP00000261772.7:p.Arg840Ter
ENST00000565361.3:c.2611C>T	ENSP00000455360.3:p.Arg871Ter
ENST00000569825.1:n.524C>T
ENST00000569825.2:n.631C>T
ENST00000674512.1:c.2497C>T	ENSP00000501613.1:p.Arg833Ter
ENST00000674652.1:c.*2307C>T	ENSP00000502620.1:n.*2307C>T
ENST00000674691.1:c.2518C>T	ENSP00000502247.1:p.Arg840Ter
ENST00000674768.1:c.*773C>T	ENSP00000501679.1:n.*773C>T
ENST00000674811.1:c.*711C>T	ENSP00000502055.1:n.*711C>T
ENST00000674848.1:n.2567C>T
ENST00000674962.1:n.4872C>T
ENST00000674963.1:c.2518C>T	ENSP00000501924.1:p.Arg840Ter
ENST00000675035.1:c.*128C>T	ENSP00000502712.1:n.*128C>T
ENST00000675045.1:c.2545C>T	ENSP00000502014.1:p.Arg849Ter
ENST00000675120.1:c.*828C>T	ENSP00000502823.1:n.*828C>T
ENST00000675133.1:c.2491C>T	ENSP00000502230.1:p.Arg831Ter
ENST00000675270.1:n.2653C>T
ENST00000675297.1:c.*1452C>T	ENSP00000502753.1:n.*1452C>T
ENST00000675371.1:c.*128C>T	ENSP00000502645.1:n.*128C>T
ENST00000675403.1:n.3438C>T
ENST00000675569.1:c.*1752C>T	ENSP00000502534.1:n.*1752C>T
ENST00000675588.1:n.1265C>T
ENST00000675643.1:c.2518C>T	ENSP00000502797.1:p.Arg840Ter
ENST00000675691.1:c.2389C>T	ENSP00000502196.1:p.Arg797Ter
ENST00000675751.1:c.*1545C>T	ENSP00000502277.1:n.*1545C>T
ENST00000675853.1:c.2518C>T	ENSP00000502367.1:p.Arg840Ter
ENST00000675917.1:n.2815C>T
ENST00000675953.1:c.2434C>T	ENSP00000502321.1:p.Arg812Ter
ENST00000675986.1:n.2676C>T
ENST00000676004.1:c.*2517C>T	ENSP00000502765.1:n.*2517C>T
ENST00000676040.1:c.*1752C>T	ENSP00000502108.1:n.*1752C>T
ENST00000676168.1:c.*128C>T	ENSP00000502479.1:n.*128C>T
ENST00000676209.1:c.*870C>T	ENSP00000502052.1:n.*870C>T
ENST00000676211.1:c.*1545C>T	ENSP00000502726.1:n.*1545C>T
ENST00000676212.1:c.*207C>T	ENSP00000501853.1:n.*207C>T
ENST00000676247.1:c.*870C>T	ENSP00000502699.1:n.*870C>T
XR_933220.1:n.2484C>T
XR_933220.3:n.2443C>T