Canonical Allele Identifier: CA396554629

Gene: AARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70253287C>T , CM000678.2:g.70253287C>T	GRCh38
NC_000016.9:g.70287190C>T , CM000678.1:g.70287190C>T	GRCh37
NC_000016.8:g.68844691C>T	NCBI36
NG_023191.1:g.41223G>A , LRG_359:g.41223G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261772.13:c.2702G>A MANE Select	ENSP00000261772.8:p.Cys901Tyr
ENST00000565361.3:c.2795G>A	ENSP00000455360.3:p.Cys932Tyr
ENST00000569825.2:n.1147G>A
ENST00000674512.1:c.2681G>A	ENSP00000501613.1:p.Cys894Tyr
ENST00000674652.1:c.*2491G>A	ENSP00000502620.1:n.*2491G>A
ENST00000674691.1:c.2702G>A	ENSP00000502247.1:p.Cys901Tyr
ENST00000674768.1:c.*1289G>A	ENSP00000501679.1:n.*1289G>A
ENST00000674811.1:c.*895G>A	ENSP00000502055.1:n.*895G>A
ENST00000674848.1:n.3083G>A
ENST00000674962.1:n.5388G>A
ENST00000674963.1:c.2702G>A	ENSP00000501924.1:p.Cys901Tyr
ENST00000675035.1:c.*312G>A	ENSP00000502712.1:n.*312G>A
ENST00000675045.1:c.2729G>A	ENSP00000502014.1:p.Cys910Tyr
ENST00000675120.1:c.*1012G>A	ENSP00000502823.1:n.*1012G>A
ENST00000675133.1:c.2675G>A	ENSP00000502230.1:p.Cys892Tyr
ENST00000675270.1:n.2837G>A
ENST00000675297.1:c.*1968G>A	ENSP00000502753.1:n.*1968G>A
ENST00000675371.1:c.*644G>A	ENSP00000502645.1:n.*644G>A
ENST00000675403.1:n.3622G>A
ENST00000675569.1:c.*1936G>A	ENSP00000502534.1:n.*1936G>A
ENST00000675588.1:n.1449G>A
ENST00000675643.1:c.2702G>A	ENSP00000502797.1:p.Cys901Tyr
ENST00000675691.1:c.2573G>A	ENSP00000502196.1:p.Cys858Tyr
ENST00000675751.1:c.*2061G>A	ENSP00000502277.1:n.*2061G>A
ENST00000675853.1:c.2750G>A	ENSP00000502367.1:p.Cys917Tyr
ENST00000675917.1:n.2999G>A
ENST00000675953.1:c.2618G>A	ENSP00000502321.1:p.Cys873Tyr
ENST00000675986.1:n.3192G>A
ENST00000676004.1:c.*2701G>A	ENSP00000502765.1:n.*2701G>A
ENST00000676040.1:c.*1936G>A	ENSP00000502108.1:n.*1936G>A
ENST00000676168.1:c.*312G>A	ENSP00000502479.1:n.*312G>A
ENST00000676209.1:c.*1054G>A	ENSP00000502052.1:n.*1054G>A
ENST00000676211.1:c.*1729G>A	ENSP00000502726.1:n.*1729G>A
ENST00000676212.1:c.*391G>A	ENSP00000501853.1:n.*391G>A
ENST00000676247.1:c.*1386G>A	ENSP00000502699.1:n.*1386G>A
ENST00000261772.12:c.2702G>A	ENSP00000261772.7:p.Cys901Tyr
NM_001605.2:c.2702G>A , LRG_359t1:c.2702G>A	NP_001596.2:p.Cys901Tyr
XR_933220.1:n.2668G>A
XR_933220.3:n.2627G>A
NM_001605.3:c.2702G>A MANE Select	NP_001596.2:p.Cys901Tyr